Variant report

Variant	rs2243999
Chromosome Location	chr21:45534032-45534033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:198)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:198 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:45534000-45534150	HCM	heart:	n/a	n/a
2	RAD21	chr21:45533931-45534154	K562	blood:	n/a	chr21:45534012-45534025 chr21:45534028-45534041
3	CTCF	chr21:45533867-45534223	GM19239	blood:	n/a	n/a
4	CTCF	chr21:45533940-45534090	HEEpiC	esophagus:	n/a	n/a
5	RAD21	chr21:45533943-45534098	K562	blood:	n/a	chr21:45534012-45534025 chr21:45534028-45534041
6	CTCF	chr21:45533894-45534225	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr21:45533980-45534130	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr21:45533960-45534110	GM12867	blood:	n/a	n/a
9	CTCF	chr21:45534020-45534170	BJ	skin:	n/a	n/a
10	CTCF	chr21:45533933-45534176	GM13976	blood:	n/a	n/a
11	CTCF	chr21:45534000-45534150	HCFaa	heart:	n/a	n/a
12	CTCF	chr21:45533980-45534130	AG10803	skin:	n/a	n/a
13	CTCF	chr21:45533960-45534110	WI-38	lung:	n/a	n/a
14	CTCF	chr21:45533940-45534090	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr21:45533960-45534110	GM12873	blood:	n/a	n/a
16	RAD21	chr21:45533888-45534199	HepG2	liver:	n/a	chr21:45534012-45534025 chr21:45534028-45534041
17	ZNF143	chr21:45533877-45534233	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr21:45533980-45534130	HMEC	breast:	n/a	n/a
19	CTCF	chr21:45533920-45534182	SK-N-SH_RA	brain:	n/a	n/a
20	ZNF263	chr21:45533827-45534182	HEK293-T-REx	kidney:	n/a	n/a
21	SIN3A	chr21:45533952-45534152	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr21:45533980-45534130	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr21:45533897-45534218	Gliobla	brain:	n/a	n/a
24	CTCF	chr21:45533919-45534166	Medullo	brain:	n/a	n/a
25	CTCF	chr21:45533980-45534130	SK-N-SH_RA	brain:	n/a	n/a
26	CTCFL	chr21:45533919-45534120	K562	blood:	n/a	n/a
27	CTCF	chr21:45533940-45534090	Caco-2	colon:	n/a	n/a
28	CTCF	chr21:45534000-45534150	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr21:45534000-45534150	GM12873	blood:	n/a	n/a
30	CTCF	chr21:45533930-45534204	MCF-7	breast:	n/a	n/a
31	CTCF	chr21:45533959-45534168	Lung_OC	lung:	n/a	n/a
32	CTCF	chr21:45534000-45534150	HBMEC	blood vessel:	n/a	n/a
33	POLR2A	chr21:45533749-45534312	K562	blood:	n/a	n/a
34	CTCF	chr21:45533822-45534183	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr21:45533925-45534217	GM12878	blood:	n/a	n/a
36	CTCF	chr21:45533960-45534110	Caco-2	colon:	n/a	n/a
37	CTCF	chr21:45534020-45534170	HVMF	connective:	n/a	n/a
38	CTCF	chr21:45533980-45534130	HPF	lung:	n/a	n/a
39	RAD21	chr21:45533944-45534136	GM12878	blood:	n/a	chr21:45534012-45534025 chr21:45534028-45534041
40	POLR2A	chr21:45533894-45534133	MCF-7	breast:	n/a	n/a
41	CTCF	chr21:45533980-45534130	GM12865	blood:	n/a	n/a
42	CTCF	chr21:45533855-45534240	K562	blood:	n/a	n/a
43	PAX5	chr21:45533901-45534179	GM12878	blood:	n/a	n/a
44	CTCF	chr21:45533980-45534130	HepG2	liver:	n/a	n/a
45	SMC3	chr21:45533882-45534201	K562	blood:	n/a	n/a
46	EP300	chr21:45534015-45534144	K562	blood:	n/a	n/a
47	RAD21	chr21:45533939-45534178	IMR90	lung:	n/a	chr21:45534012-45534025 chr21:45534028-45534041
48	CTCF	chr21:45534000-45534150	HMEC	breast:	n/a	n/a
49	RAD21	chr21:45533931-45534173	H1-hESC	embryonic stem cell:	n/a	chr21:45534012-45534025 chr21:45534028-45534041
50	CTCF	chr21:45533960-45534110	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45530458..45534134-chr21:45563477..45567094,3	MCF-7	breast:
2	chr21:45533786..45534376-chr21:45687482..45688014,2	K562	blood:
3	chr21:45428790..45430380-chr21:45532009..45534360,2	K562	blood:
4	chr21:45532574..45534187-chr21:45541408..45543711,2	MCF-7	breast:
5	chr21:45533330..45534380-chr21:45717133..45718236,3	K562	blood:
6	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
7	chr21:45515970..45519529-chr21:45533153..45535731,3	K562	blood:

No data

Variant related genes	Relation type
PWP2	TF binding region
ENSG00000241945	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160221	Chromatin interaction

Extended variants
information (count: 187 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:169)

rs_ID	r²[population]
rs1005046	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1051981	0.84[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs1059813	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10854489	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11089111	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11089115	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1131999	0.83[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11700840	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11700919	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12626672	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12627239	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13046297	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13047030	0.81[EUR][1000 genomes]
rs13048551	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13049059	0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs13050630	0.83[ASN][1000 genomes]
rs1858665	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2020945	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2020946	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2020947	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2020948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2039272	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2051260	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071135	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2071142	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071143	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071146	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071147	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071152	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2073432	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073433	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073434	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2073435	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2156428	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2187313	0.84[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2238704	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap]
rs2238707	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2238711	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs2238713	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242950	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242953	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242954	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2243348	0.86[ASN][1000 genomes]
rs2245372	0.85[ASN][1000 genomes]
rs2245380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2245386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2245462	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2247400	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2251267	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2255828	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2255922	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2256441	1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap]
rs2276530	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2277805	0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2277806	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299812	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299815	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2299818	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2299820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2329706	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2329707	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516521	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2776368	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838466	0.86[EUR][1000 genomes]
rs2838468	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838469	0.81[TSI][hapmap]
rs2838471	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838472	0.84[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap]
rs2838473	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2838474	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838476	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2838477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2838478	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2838480	0.82[ASN][1000 genomes]
rs2838481	0.83[ASN][1000 genomes]
rs2838482	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2838486	0.83[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838488	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838490	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838491	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838492	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838493	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2838494	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838496	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838498	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838499	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838500	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838502	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838503	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838508	0.91[TSI][hapmap]
rs2838509	0.90[TSI][hapmap]
rs2838512	0.81[GIH][hapmap]
rs2850150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850153	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850154	0.89[EUR][1000 genomes]
rs2850155	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850156	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850157	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2855650	0.87[AFR][1000 genomes]
rs2855651	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2855652	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2855653	0.86[EUR][1000 genomes]
rs28859288	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35538274	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35610725	0.83[ASN][1000 genomes]
rs3788097	0.94[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap]
rs3788104	0.85[EUR][1000 genomes]
rs3788108	0.84[EUR][1000 genomes]
rs4818881	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818882	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819366	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4819370	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4819372	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4819373	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819376	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819377	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819378	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819379	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819381	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4819383	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56384549	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6518345	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs7277269	0.82[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7279319	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7279727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7280558	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[TSI][hapmap]
rs7280581	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7281270	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281291	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7281768	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7281778	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7282324	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs7282643	0.86[EUR][1000 genomes]
rs7283870	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs729882	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs756553	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756554	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs756555	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[EUR][1000 genomes]
rs7676	0.84[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs8126564	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8126958	0.88[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs8130647	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8132918	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8133422	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8133610	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885872	0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs915772	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs915774	0.94[ASW][hapmap];0.85[CEU][hapmap];0.98[GIH][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap]
rs915878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9306171	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs9306172	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9306174	0.85[ASN][1000 genomes]
rs9680179	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs968713	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs968714	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974315	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9975708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9975978	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9977564	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9978130	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9979882	0.83[EUR][1000 genomes]
rs9981257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9981485	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv984522	chr21:45514579-45542066	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
17	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
18	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2243999	PWP2	cis	lymphoblastoid	seeQTL
rs2243999	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs2243999	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45528200-45540200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45528200-45552800	Weak transcription	Right Atrium	heart
3	chr21:45528400-45534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:45528400-45534400	Weak transcription	HSMMtube	muscle
5	chr21:45528400-45534600	Weak transcription	Psoas Muscle	Psoas
6	chr21:45528400-45537600	Weak transcription	Small Intestine	intestine
7	chr21:45528600-45534200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45528600-45534400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:45528600-45535200	Weak transcription	NHDF-Ad	bronchial
10	chr21:45528600-45535400	Strong transcription	K562	blood
11	chr21:45528600-45536200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:45528600-45536200	Strong transcription	A549	lung
13	chr21:45528600-45536400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:45528600-45540600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr21:45528600-45551800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:45528800-45540600	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:45528800-45541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr21:45528800-45543200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:45528800-45551800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:45528800-45551800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr21:45528800-45552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:45528800-45552000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:45528800-45552000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr21:45528800-45552200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:45528800-45552200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:45528800-45552400	Weak transcription	Fetal Heart	heart
27	chr21:45528800-45552400	Strong transcription	Fetal Intestine Small	intestine
28	chr21:45528800-45552600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:45529000-45540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:45529000-45540600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45529000-45547200	Strong transcription	Liver	Liver
32	chr21:45529000-45549200	Strong transcription	HepG2	liver
33	chr21:45529000-45549400	Strong transcription	HMEC	breast
34	chr21:45529000-45551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:45529000-45551200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr21:45529000-45552000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr21:45529000-45552000	Strong transcription	Fetal Brain Female	brain
38	chr21:45529200-45536200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:45529200-45536400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:45529200-45536600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:45529200-45540200	Strong transcription	Placenta	Placenta
42	chr21:45529200-45540200	Strong transcription	Lung	lung
43	chr21:45529200-45540400	Strong transcription	Adipose Nuclei	Adipose
44	chr21:45529200-45540600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr21:45529200-45551200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:45529200-45551200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:45529200-45551400	Strong transcription	Ovary	ovary
48	chr21:45529200-45551800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:45529200-45551800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr21:45529200-45551800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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