Variant report

Variant	rs11944752
Chromosome Location	chr4:100485255-100485256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:305)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:100484480-100485503	GM12878	blood:	n/a	chr4:100484512-100484528
2	CEBPB	chr4:100484681-100485385	A549	lung:	n/a	n/a
3	YY1	chr4:100484512-100485337	GM12891	blood:	n/a	chr4:100484881-100484895 chr4:100484880-100484889
4	ZMIZ1	chr4:100484429-100485308	K562	blood:	n/a	n/a
5	RUNX3	chr4:100484328-100485479	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr4:100484505-100485258	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYBL2	chr4:100484039-100485486	HepG2	liver:	n/a	n/a
8	BCLAF1	chr4:100484423-100485409	GM12878	blood:	n/a	chr4:100484880-100484893 chr4:100484876-100484889 chr4:100485089-100485098
9	POLR2A	chr4:100484100-100485509	NB4	blood:	n/a	n/a
10	POLR2A	chr4:100484347-100485503	H1-neurons	neurons:	n/a	n/a
11	YY1	chr4:100484883-100485388	A549	lung:	n/a	n/a
12	ETS1	chr4:100484637-100485370	GM12878	blood:	n/a	chr4:100484882-100484893 chr4:100485158-100485171
13	SPI1	chr4:100484228-100485390	HL-60	blood:	n/a	chr4:100485089-100485098
14	YY1	chr4:100484495-100485442	SK-N-SH_RA	brain:	n/a	chr4:100484881-100484895 chr4:100484880-100484889
15	POLR2A	chr4:100484614-100485372	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPD	chr4:100484460-100485361	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:100484423-100485373	ProgFib	skin:	n/a	n/a
18	POLR2A	chr4:100484121-100485507	GM18505	blood:	n/a	n/a
19	RCOR1	chr4:100484221-100485366	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr4:100484220-100485492	GM18951	blood:	n/a	n/a
21	POLR2A	chr4:100484217-100485490	HCT-116	colon:	n/a	n/a
22	SIX5	chr4:100484983-100485310	H1-hESC	embryonic stem cell:	n/a	chr4:100485157-100485171
23	MAX	chr4:100484065-100485296	K562	blood:	n/a	chr4:100485172-100485182
24	MXI1	chr4:100484102-100485403	HepG2	liver:	n/a	n/a
25	YY1	chr4:100484427-100485423	GM12892	blood:	n/a	chr4:100484881-100484895 chr4:100484880-100484889
26	SIX5	chr4:100484690-100485311	GM12878	blood:	n/a	chr4:100485157-100485171
27	SIX5	chr4:100484610-100485483	A549	lung:	n/a	chr4:100485157-100485171
28	POLR2A	chr4:100484213-100485344	HUVEC	blood vessel:	n/a	n/a
29	RCOR1	chr4:100484482-100485337	HepG2	liver:	n/a	n/a
30	FOXP2	chr4:100484614-100485360	SK-N-MC	brain:	n/a	n/a
31	RCOR1	chr4:100484197-100485437	K562	blood:	n/a	n/a
32	POLR2A	chr4:100483655-100485509	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:100484537-100485393	GM10847	blood:	n/a	n/a
34	POLR2A	chr4:100484281-100485450	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr4:100484047-100485512	Hela-S3	cervix:	n/a	n/a
36	MXI1	chr4:100484281-100485504	K562	blood:	n/a	n/a
37	BRCA1	chr4:100484345-100485376	Hela-S3	cervix:	n/a	n/a
38	YY1	chr4:100484579-100485478	SK-N-SH_RA	brain:	n/a	chr4:100484881-100484895 chr4:100484880-100484889
39	CREB1	chr4:100484437-100485481	K562	blood:	n/a	n/a
40	SMC3	chr4:100484275-100485458	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr4:100484587-100485415	IMR90	lung:	n/a	n/a
42	STAT3	chr4:100484569-100485374	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:100484140-100485556	SK-N-SH	brain:	n/a	n/a
44	PAX5	chr4:100484708-100485377	GM12878	blood:	n/a	chr4:100485125-100485152 chr4:100485089-100485098
45	YY1	chr4:100484960-100485339	K562	blood:	n/a	n/a
46	STAT3	chr4:100484252-100485492	MCF10A-Er-Src	breast:	n/a	chr4:100484371-100484383
47	FOXM1	chr4:100484480-100485381	GM12878	blood:	n/a	n/a
48	ZNF384	chr4:100484548-100485458	GM12878	blood:	n/a	n/a
49	YY1	chr4:100484453-100485377	H1-hESC	embryonic stem cell:	n/a	chr4:100484881-100484895 chr4:100484880-100484889
50	RCOR1	chr4:100484624-100485339	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100485234-100485284	HEK293	kidney:	embryo
2	chr4:100485221-100485271	H1-hESC	embryonic stem cell:	embryo
3	chr4:100485234-100485284	GM12878	blood:	n/a
4	chr4:100485243-100485293	IMR90	lung:	fetal
5	chr4:100485221-100485271	HEEpiC	esophagus:	n/a
6	chr4:100485243-100485293	BJ	skin:	n/a
7	chr4:100485234-100485284	HRPEpiC	eye:	n/a
8	chr4:100485208-100485258	NB4	blood:	n/a
9	chr4:100485208-100485258	ovcar-3	ovarian:	n/a
10	chr4:100485208-100485258	HMEC	breast:	n/a
11	chr4:100485214-100485264	HMEC	breast:	n/a
12	chr4:100485214-100485264	SK-N-MC	brain:	n/a
13	chr4:100485214-100485264	MCF10A-Er-Src	breast:	n/a
14	chr4:100485234-100485284	IMR90	lung:	fetal
15	chr4:100485243-100485293	HRPEpiC	eye:	n/a
16	chr4:100485234-100485284	BJ	skin:	n/a
17	chr4:100485243-100485293	HCT-116	colon:	n/a
18	chr4:100485214-100485264	HUVEC	blood vessel:	n/a
19	chr4:100485208-100485258	GM12878	blood:	n/a
20	chr4:100485208-100485258	PrEC	prostate:	n/a
21	chr4:100485208-100485258	PANC-1	pancreas:	n/a
22	chr4:100485243-100485293	NH-A	brain:	n/a
23	chr4:100485214-100485264	GM12892	blood:	n/a
24	chr4:100485234-100485284	AG09319	gingival:	n/a
25	chr4:100485243-100485293	LNCaP	prostate:	n/a
26	chr4:100485234-100485284	SKMC	muscle:	n/a
27	chr4:100485243-100485293	Hepatocyte	liver:	n/a
28	chr4:100485221-100485271	CMK	blood:	n/a
29	chr4:100485243-100485293	NB4	blood:	n/a
30	chr4:100485221-100485271	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:100485243-100485293	HMEC	breast:	n/a
32	chr4:100485214-100485264	SAEC	small airway:	n/a
33	chr4:100485208-100485258	CMK	blood:	n/a
34	chr4:100485208-100485258	Hela-S3	cervix:	n/a
35	chr4:100485214-100485264	HCT-116	colon:	n/a
36	chr4:100485221-100485271	U87	brain:	n/a
37	chr4:100485243-100485293	PANC-1	pancreas:	n/a
38	chr4:100485214-100485264	Hepatocyte	liver:	n/a
39	chr4:100485243-100485293	HEK293	kidney:	embryo
40	chr4:100485234-100485284	ovcar-3	ovarian:	n/a
41	chr4:100485234-100485284	PANC-1	pancreas:	n/a
42	chr4:100485243-100485293	HNPCEpiC	eye:	n/a
43	chr4:100485214-100485264	Jurkat	blood:	n/a
44	chr4:100485234-100485284	MCF-7	breast:	n/a
45	chr4:100485221-100485271	MCF10A-Er-Src	breast:	n/a
46	chr4:100485234-100485284	GM12891	blood:	n/a
47	chr4:100485221-100485271	NB4	blood:	n/a
48	chr4:100485234-100485284	Hepatocyte	liver:	n/a
49	chr4:100485221-100485271	HRPEpiC	eye:	n/a
50	chr4:100485234-100485284	U87	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
2	chr4:100477155..100479164-chr4:100484315..100486411,2	K562	blood:
3	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
4	chr4:100483752..100485298-chr4:100736199..100738543,2	MCF-7	breast:
5	chr4:100482462..100485382-chr4:100814090..100816679,3	MCF-7	breast:
6	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:
7	chr4:100483475..100486481-chr4:100870338..100872441,3	MCF-7	breast:
8	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
9	chr4:100010072..100012637-chr4:100483853..100485997,3	K562	blood:
10	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:

No data

Variant related genes	Relation type
TRMT10A	TF binding region
TRMT10A	CpG island
ENSG00000145331	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000070190	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000138823	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10000018	0.86[EUR][1000 genomes]
rs10007794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10008896	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10008928	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10009198	0.84[EUR][1000 genomes]
rs10013868	0.91[ASN][1000 genomes]
rs10013883	0.87[ASN][1000 genomes]
rs10019266	0.86[EUR][1000 genomes]
rs10020461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10022775	0.91[ASN][1000 genomes]
rs10026790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030937	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10031512	0.86[EUR][1000 genomes]
rs10516443	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10516444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1054730	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1057615	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097668	0.97[ASN][1000 genomes]
rs11933250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933337	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];1.00[ASN][1000 genomes]
rs11933520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934921	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11935423	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs11935581	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11937107	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937273	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943031	0.94[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944749	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs11944750	0.91[ASN][1000 genomes]
rs11946292	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11946367	1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11946658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947558	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491235	0.95[CEU][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs1503774	0.85[EUR][1000 genomes]
rs1503777	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1503778	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029108	0.86[EUR][1000 genomes]
rs17029163	1.00[ASN][1000 genomes]
rs17531824	0.93[ASN][1000 genomes]
rs17598226	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800591	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800804	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873517	0.84[EUR][1000 genomes]
rs2089079	0.95[CEU][hapmap];0.93[GIH][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs2255119	0.88[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2637768	0.95[ASN][1000 genomes]
rs2718684	0.95[ASN][1000 genomes]
rs28368786	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376611	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28431971	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28435607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444681	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28473262	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28500697	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851225	0.95[ASN][1000 genomes]
rs28595160	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608631	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28621060	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28647519	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28666735	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28678377	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28704064	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28849180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903201	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811800	0.81[CEU][hapmap]
rs3816873	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817083	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs4423880	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45440196	0.88[ASN][1000 genomes]
rs6532820	0.86[EUR][1000 genomes]
rs6815231	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6815416	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6825248	0.95[ASN][1000 genomes]
rs6839296	0.86[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841211	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6841282	0.91[ASN][1000 genomes]
rs6854911	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs72681967	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7656665	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661453	0.86[EUR][1000 genomes]
rs7661656	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7661964	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686425	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693979	0.82[EUR][1000 genomes]
rs867380	0.85[EUR][1000 genomes]
rs867381	0.85[EUR][1000 genomes]
rs884274	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs884275	0.81[CEU][hapmap]
rs9307240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990558	0.84[EUR][1000 genomes]
rs9997840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11944752	C4orf37	cis	cerebellum	SCAN
rs11944752	TSPAN5	cis	parietal	SCAN
rs11944752	TRIM60	trans	parietal	SCAN
rs11944752	ADH6	cis	parietal	SCAN
rs11944752	MTTP	cis	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100483400-100485800	Active TSS	A549	lung
2	chr4:100483600-100485600	Active TSS	Placenta	Placenta
3	chr4:100483600-100485800	Active TSS	Duodenum Mucosa	Duodenum
4	chr4:100483600-100485800	Active TSS	K562	blood
5	chr4:100483800-100485400	Active TSS	Liver	Liver
6	chr4:100483800-100485600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:100483800-100485600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:100483800-100485600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:100483800-100485600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:100483800-100485600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:100483800-100485600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:100483800-100485600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:100483800-100485600	Active TSS	Fetal Intestine Small	intestine
14	chr4:100483800-100485600	Active TSS	Fetal Stomach	stomach
15	chr4:100483800-100485600	Active TSS	Rectal Smooth Muscle	rectum
16	chr4:100483800-100485800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr4:100483800-100485800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:100483800-100485800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:100483800-100485800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:100483800-100485800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr4:100483800-100485800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:100483800-100485800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:100483800-100485800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:100483800-100485800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:100483800-100485800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:100483800-100485800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:100483800-100485800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:100483800-100485800	Active TSS	Fetal Intestine Large	intestine
29	chr4:100484000-100485400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:100484000-100485400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:100484000-100485400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:100484000-100485400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:100484000-100485400	Active TSS	Esophagus	oesophagus
34	chr4:100484000-100485400	Active TSS	Left Ventricle	heart
35	chr4:100484000-100485600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:100484000-100485600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:100484000-100485600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr4:100484000-100485600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:100484000-100485600	Active TSS	Brain Hippocampus Middle	brain
40	chr4:100484000-100485600	Active TSS	Brain Substantia Nigra	brain
41	chr4:100484000-100485600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr4:100484000-100485600	Active TSS	Right Atrium	heart
43	chr4:100484000-100485600	Active TSS	Right Ventricle	heart
44	chr4:100484000-100485600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:100484000-100485600	Active TSS	Stomach Smooth Muscle	stomach
46	chr4:100484000-100485600	Active TSS	Hela-S3	cervix
47	chr4:100484000-100485600	Active TSS	HSMM	muscle
48	chr4:100484000-100485600	Active TSS	NH-A	brain
49	chr4:100484000-100485600	Active TSS	NHEK	skin
50	chr4:100484000-100485800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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