Variant report

Variant	rs2071152
Chromosome Location	chr21:45503121-45503122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr21:45502862-45503478	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr21:45502435-45503277	K562	blood:	n/a	n/a
3	GATA3	chr21:45502740-45503487	MCF-7	breast:	n/a	n/a
4	TCF7L2	chr21:45503022-45503313	MCF-7	breast:	n/a	chr21:45503205-45503219 chr21:45503281-45503291
5	HDAC2	chr21:45502850-45503292	MCF-7	breast:	n/a	chr21:45503204-45503212
6	MAX	chr21:45502727-45503490	MCF-7	breast:	n/a	n/a
7	HDAC2	chr21:45502746-45503411	MCF-7	breast:	n/a	chr21:45503204-45503212
8	POLR2A	chr21:45502472-45503227	K562	blood:	n/a	n/a
9	POLR2A	chr21:45502415-45503322	K562	blood:	n/a	n/a
10	POLR2A	chr21:45503027-45503217	H1-hESC	embryonic stem cell:	n/a	n/a
11	NR2F2	chr21:45502835-45503517	MCF-7	breast:	n/a	n/a
12	POLR2A	chr21:45502548-45503299	K562	blood:	n/a	n/a
13	MYC	chr21:45502955-45503252	MCF-7	breast:	n/a	n/a
14	MAX	chr21:45502719-45503405	MCF-7	breast:	n/a	n/a
15	MAX	chr21:45502886-45503374	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr21:45502653-45503245	K562	blood:	n/a	n/a
17	GATA3	chr21:45502625-45503440	MCF-7	breast:	n/a	n/a
18	MYC	chr21:45503003-45503218	MCF-7	breast:	n/a	n/a
19	NR2F2	chr21:45502811-45503492	MCF-7	breast:	n/a	n/a
20	USF1	chr21:45502910-45503427	ECC-1	luminal epithelium:	n/a	n/a
21	SIN3AK20	chr21:45502615-45503466	MCF-7	breast:	n/a	n/a
22	MYC	chr21:45502844-45503316	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:45503021-45503324	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45502612..45504623-chr21:45528880..45531046,2	K562	blood:
2	chr21:45216337..45218893-chr21:45502458..45504262,2	MCF-7	breast:
3	chr21:45502065..45504473-chr21:45519018..45520739,2	K562	blood:
4	chr21:45502454..45504356-chr21:45527025..45529018,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000160214	Chromatin interaction
ENSG00000241945	Chromatin interaction

Extended variants
information (count: 174 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs1005046	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1051981	0.80[TSI][hapmap]
rs1059813	0.87[ASN][1000 genomes]
rs10854489	0.86[ASN][1000 genomes]
rs11089111	0.87[ASN][1000 genomes]
rs11089115	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1131999	0.82[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11700919	0.87[ASN][1000 genomes]
rs12627239	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13046297	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap]
rs13049059	0.95[GIH][hapmap];1.00[JPT][hapmap]
rs13050630	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1858665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs2020945	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs2020946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2020947	0.86[ASN][1000 genomes]
rs2020948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2039272	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051260	0.85[ASN][1000 genomes]
rs2071142	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs2071143	0.88[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]
rs2071146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs2071147	0.87[ASN][1000 genomes]
rs2071154	0.81[CEU][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs2073432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2073433	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2073434	0.81[ASN][1000 genomes]
rs2073435	0.81[ASN][1000 genomes]
rs2156428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2238704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238705	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238706	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238708	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238709	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238710	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238712	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238713	0.87[ASN][1000 genomes]
rs2242950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2242953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2242954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2243348	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243999	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]
rs2245372	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245462	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2251267	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs2255716	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2255828	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2255922	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2256392	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2277805	0.80[TSI][hapmap]
rs2277806	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299813	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2299816	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2299818	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329706	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2329707	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2516519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2516521	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2776368	0.87[ASN][1000 genomes]
rs2838466	0.85[ASN][1000 genomes]
rs2838467	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838471	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838472	0.94[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2838474	0.92[ASN][1000 genomes]
rs2838476	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838480	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2838483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838486	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2838488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2838490	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs2838491	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs2838492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs2838494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838496	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838498	0.83[ASN][1000 genomes]
rs2838499	0.83[ASN][1000 genomes]
rs2838502	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap]
rs2838503	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap]
rs2850150	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2850153	0.85[ASN][1000 genomes]
rs2850155	0.87[ASN][1000 genomes]
rs2850156	0.87[ASN][1000 genomes]
rs2850157	0.87[ASN][1000 genomes]
rs2855651	0.86[ASN][1000 genomes]
rs2855652	0.86[ASN][1000 genomes]
rs28859288	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35538274	0.83[ASN][1000 genomes]
rs35610725	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788097	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3788098	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3788101	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788102	0.86[EUR][1000 genomes]
rs4818878	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818881	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4819366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4819370	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4819372	0.91[ASN][1000 genomes]
rs4819373	0.87[ASN][1000 genomes]
rs4819376	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs4819377	0.87[ASN][1000 genomes]
rs4819378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4819379	0.87[ASN][1000 genomes]
rs4819381	0.83[ASN][1000 genomes]
rs56384549	0.91[ASN][1000 genomes]
rs59675192	0.86[EUR][1000 genomes]
rs6518345	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7277269	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.93[ASN][1000 genomes]
rs7279727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7280558	1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap]
rs7280581	0.87[ASN][1000 genomes]
rs7281270	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7281768	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7281778	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7282643	0.86[ASN][1000 genomes]
rs729882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs756553	0.86[ASN][1000 genomes]
rs756554	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs756555	0.82[CHB][hapmap]
rs8126564	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs8126754	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8126958	0.94[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.82[EUR][1000 genomes]
rs8129971	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8130647	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8132918	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8133422	0.92[ASN][1000 genomes]
rs8133610	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs915772	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs915774	0.95[GIH][hapmap]
rs915878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306169	0.86[EUR][1000 genomes]
rs9306171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9306172	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9306174	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs965733	0.80[CEU][hapmap];0.89[TSI][hapmap]
rs9680179	0.83[ASN][1000 genomes]
rs968714	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs9974165	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9974315	0.92[ASN][1000 genomes]
rs9975708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9975978	0.93[ASN][1000 genomes]
rs9977564	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9978130	0.89[ASN][1000 genomes]
rs9981257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9981485	0.89[ASN][1000 genomes]
rs9982663	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2071152	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs2071152	PWP2	cis	lymphoblastoid	seeQTL
rs2071152	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
3	chr21:45472800-45503800	Strong transcription	Liver	Liver
4	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:45481600-45510800	Strong transcription	Dnd41	blood
6	chr21:45481600-45523800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:45481800-45503800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:45485800-45506800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr21:45485800-45506800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:45486200-45503400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:45486200-45524000	Strong transcription	GM12878-XiMat	blood
12	chr21:45488400-45523800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:45488600-45507200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:45489000-45504000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:45489000-45504000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr21:45489000-45504600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:45489400-45503800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr21:45491200-45510800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:45491400-45514600	Strong transcription	Osteobl	bone
20	chr21:45491600-45514600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:45492600-45510800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:45493000-45508400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:45493000-45510400	Strong transcription	HSMM	muscle
24	chr21:45493000-45510800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr21:45493400-45514800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:45493600-45504000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr21:45493600-45510800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:45493600-45510800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:45493600-45515000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr21:45493800-45504400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr21:45493800-45514400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:45494000-45504000	Strong transcription	HSMMtube	muscle
33	chr21:45494000-45510800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr21:45495000-45507800	Weak transcription	Fetal Brain Male	brain
35	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:45496200-45510800	Strong transcription	Fetal Brain Female	brain
37	chr21:45496200-45514200	Strong transcription	Brain Germinal Matrix	brain
38	chr21:45496200-45514600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr21:45497000-45510000	Weak transcription	Psoas Muscle	Psoas
40	chr21:45497200-45506800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:45497400-45514600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr21:45498000-45504000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr21:45498000-45512400	Strong transcription	HMEC	breast
44	chr21:45498400-45503400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr21:45498400-45503400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr21:45498400-45524000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr21:45498600-45511000	Strong transcription	HepG2	liver
48	chr21:45498600-45512400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:45498600-45523800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr21:45498800-45510800	Strong transcription	NH-A	brain

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