Variant report

Variant	rs7327779
Chromosome Location	chr13:40229724-40229725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:253)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr13:40229620-40230239	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr13:40229712-40230076	H1-hESC	embryonic stem cell:	n/a	chr13:40230023-40230034
3	NRF1	chr13:40229583-40229963	K562	blood:	n/a	chr13:40229784-40229795 chr13:40229765-40229776
4	CTCF	chr13:40229720-40229870	GM06990	blood:	n/a	n/a
5	YY1	chr13:40229587-40230145	HepG2	liver:	n/a	chr13:40230023-40230034
6	POLR2A	chr13:40229402-40230537	HepG2	liver:	n/a	n/a
7	POLR2A	chr13:40229530-40230321	GM19193	blood:	n/a	n/a
8	POLR2A	chr13:40229274-40230338	GM19099	blood:	n/a	n/a
9	CTCF	chr13:40229640-40229790	HVMF	connective:	n/a	n/a
10	MAX	chr13:40229652-40229936	K562	blood:	n/a	n/a
11	TAF1	chr13:40229605-40229986	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr13:40229636-40230030	HepG2	liver:	n/a	n/a
13	TBP	chr13:40229374-40229943	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr13:40229576-40230146	HUVEC	blood vessel:	n/a	n/a
15	ZEB1	chr13:40229530-40230226	GM12878	blood:	n/a	n/a
16	ZBTB7A	chr13:40229573-40229968	K562	blood:	n/a	n/a
17	TAF1	chr13:40229514-40230300	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr13:40229488-40230343	MCF-7	breast:	n/a	n/a
19	PAX5	chr13:40229663-40230339	GM12892	blood:	n/a	n/a
20	CTCF	chr13:40229720-40229870	GM12878	blood:	n/a	n/a
21	POLR2A	chr13:40229515-40230077	GM12892	blood:	n/a	n/a
22	NRF1	chr13:40229597-40229970	Hela-S3	cervix:	n/a	chr13:40229784-40229795 chr13:40229765-40229776
23	POLR2A	chr13:40229562-40230083	HepG2	liver:	n/a	n/a
24	GATA2	chr13:40229621-40230674	SH-SY5Y	brain:	n/a	chr13:40230406-40230413
25	MXI1	chr13:40229461-40229988	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr13:40229587-40230101	A549	lung:	n/a	n/a
27	POLR2A	chr13:40229569-40230130	Hela-S3	cervix:	n/a	n/a
28	YY1	chr13:40229714-40229966	A549	lung:	n/a	n/a
29	POLR2A	chr13:40229531-40230066	HepG2	liver:	n/a	n/a
30	TAF1	chr13:40229600-40230224	HepG2	liver:	n/a	n/a
31	STAT1	chr13:40229637-40230042	GM12878	blood:	n/a	n/a
32	CTCF	chr13:40229720-40229870	HA-sp	spinal cord:	n/a	n/a
33	IRF1	chr13:40229320-40229965	K562	blood:	n/a	chr13:40229682-40229696
34	CTCF	chr13:40229720-40229870	AG09319	gingival:	n/a	n/a
35	POLR2A	chr13:40229270-40230395	GM12878	blood:	n/a	n/a
36	MYC	chr13:40229646-40230104	MCF-7	breast:	n/a	n/a
37	POLR2A	chr13:40229588-40230048	HUVEC	blood vessel:	n/a	n/a
38	YY1	chr13:40229622-40230103	SK-N-SH_RA	brain:	n/a	chr13:40230023-40230034
39	MAX	chr13:40229642-40229982	HepG2	liver:	n/a	n/a
40	POLR2A	chr13:40229131-40230230	GM12891	blood:	n/a	n/a
41	TCF12	chr13:40229567-40230197	ECC-1	luminal epithelium:	n/a	n/a
42	TAF1	chr13:40229594-40229920	A549	lung:	n/a	n/a
43	POLR2A	chr13:40229497-40230081	HepG2	liver:	n/a	n/a
44	POLR2A	chr13:40229403-40230041	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr13:40229543-40230138	GM12892	blood:	n/a	n/a
46	MAX	chr13:40229516-40230059	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr13:40229720-40229870	NHDF-neo	bronchial:	n/a	n/a
48	MYC	chr13:40229711-40229989	MCF-7	breast:	n/a	n/a
49	E2F6	chr13:40229564-40230206	K562	blood:	n/a	chr13:40229683-40229695
50	E2F4	chr13:40229647-40229883	MCF10A-Er-Src	breast:	n/a	chr13:40229683-40229695

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:40229689-40229739	RPTEC	kidney:	n/a
2	chr13:40229689-40229739	HepG2	liver:	n/a
3	chr13:40229707-40229757	HepG2	liver:	n/a
4	chr13:40229707-40229757	ECC-1	luminal epithelium:	n/a
5	chr13:40229707-40229757	IMR90	lung:	fetal
6	chr13:40229689-40229739	HCF	heart:	n/a
7	chr13:40229707-40229757	NHDF-neo	bronchial:	n/a
8	chr13:40229689-40229739	T-47D	breast:	n/a
9	chr13:40229707-40229757	HCT-116	colon:	n/a
10	chr13:40229689-40229739	HUVEC	blood vessel:	n/a
11	chr13:40229689-40229739	HEK293	kidney:	embryo
12	chr13:40229707-40229757	HPAEpiC	pulmonary alveolar:	n/a
13	chr13:40229707-40229757	SAEC	small airway:	n/a
14	chr13:40229707-40229757	HNPCEpiC	eye:	n/a
15	chr13:40229689-40229739	SK-N-MC	brain:	n/a
16	chr13:40229707-40229757	HRE	kidney:	n/a
17	chr13:40229689-40229739	NHDF-neo	bronchial:	n/a
18	chr13:40229707-40229757	HIPEpiC	eye:	n/a
19	chr13:40229707-40229757	HEK293	kidney:	embryo
20	chr13:40229707-40229757	AoSMC	blood vessel:	n/a
21	chr13:40229689-40229739	AG09319	gingival:	n/a
22	chr13:40229707-40229757	BE2_C	brain:	n/a
23	chr13:40229689-40229739	ProgFib	skin:	n/a
24	chr13:40229707-40229757	SKMC	muscle:	n/a
25	chr13:40229689-40229739	PANC-1	pancreas:	n/a
26	chr13:40229689-40229739	HRE	kidney:	n/a
27	chr13:40229689-40229739	NHBE	bronchial:	n/a
28	chr13:40229689-40229739	HNPCEpiC	eye:	n/a
29	chr13:40229689-40229739	ECC-1	luminal epithelium:	n/a
30	chr13:40229707-40229757	Hela-S3	cervix:	n/a
31	chr13:40229707-40229757	HMEC	breast:	n/a
32	chr13:40229689-40229739	SK-N-SH	brain:	n/a
33	chr13:40229689-40229739	Hepatocyte	liver:	n/a
34	chr13:40229707-40229757	NHBE	bronchial:	n/a
35	chr13:40229689-40229739	HL-60	blood:	n/a
36	chr13:40229689-40229739	ovcar-3	ovarian:	n/a
37	chr13:40229707-40229757	PFSK-1	brain:	n/a
38	chr13:40229689-40229739	SK-N-SH_RA	brain:	n/a
39	chr13:40229707-40229757	Hepatocyte	liver:	n/a
40	chr13:40229689-40229739	HPAEpiC	pulmonary alveolar:	n/a
41	chr13:40229707-40229757	GM06990	blood:	n/a
42	chr13:40229707-40229757	HCM	heart:	n/a
43	chr13:40229689-40229739	Caco-2	colon:	n/a
44	chr13:40229707-40229757	HCPEpiC	choroid plexus:	n/a
45	chr13:40229689-40229739	U87	brain:	n/a
46	chr13:40229707-40229757	PANC-1	pancreas:	n/a
47	chr13:40229707-40229757	MCF-7	breast:	n/a
48	chr13:40229707-40229757	Jurkat	blood:	n/a
49	chr13:40229707-40229757	PrEC	prostate:	n/a
50	chr13:40229707-40229757	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40229027..40231888-chr13:40233465..40236904,4	MCF-7	breast:

No data

Variant related genes	Relation type
COG6	TF binding region
COG6	CpG island
ENSG00000133103	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs3812882	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812883	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812884	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812885	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3812886	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812887	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812888	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4142370	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4278626	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4312180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4384490	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4415900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941936	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941937	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941938	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941939	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4941941	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4943686	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943687	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943691	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6563732	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67976778	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7325068	0.85[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.81[TSI][hapmap]
rs7325655	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7332791	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7334651	0.91[JPT][hapmap]
rs7335799	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7984113	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]
rs7984958	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9315720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9315725	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9532408	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9532410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9532411	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532412	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9532413	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9532414	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9532420	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9548857	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9548859	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9548862	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9548863	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9548865	1.00[ASW][hapmap];0.95[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548866	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548867	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548868	0.94[ASW][hapmap];0.95[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548869	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548870	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9548875	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9548880	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9548893	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9548894	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9548896	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548901	0.81[JPT][hapmap]
rs9548930	0.84[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap]
rs9566471	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9566472	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9576874	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576875	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576881	1.00[ASW][hapmap];0.95[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576882	1.00[ASW][hapmap];0.95[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv832586	chr13:40222880-40379063	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7327779	COG6	cis	Muscle Skeletal	GTEx
rs7327779	COG6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40229000-40230400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:40229200-40229800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr13:40229200-40229800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:40229200-40229800	Flanking Active TSS	Dnd41	blood
5	chr13:40229200-40229800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr13:40229200-40230200	Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr13:40229200-40230400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:40229200-40230400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:40229200-40230400	Active TSS	Liver	Liver
10	chr13:40229200-40230400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr13:40229200-40230400	Active TSS	HSMM	muscle
12	chr13:40229200-40230600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:40229200-40230600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:40229200-40230600	Active TSS	Brain Hippocampus Middle	brain
15	chr13:40229200-40230600	Active TSS	Brain Substantia Nigra	brain
16	chr13:40229200-40230600	Active TSS	Colon Smooth Muscle	Colon
17	chr13:40229200-40230600	Active TSS	Fetal Heart	heart
18	chr13:40229200-40230800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:40229200-40230800	Active TSS	Brain Anterior Caudate	brain
20	chr13:40229200-40230800	Active TSS	Psoas Muscle	Psoas
21	chr13:40229200-40230800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr13:40229200-40230800	Active TSS	Right Atrium	heart
23	chr13:40229200-40230800	Active TSS	Right Ventricle	heart
24	chr13:40229200-40231000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr13:40229200-40231000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr13:40229200-40231000	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr13:40229200-40231000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:40229200-40231000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr13:40229200-40231000	Active TSS	Stomach Smooth Muscle	stomach
30	chr13:40229200-40231000	Active TSS	A549	lung
31	chr13:40229200-40231200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:40229200-40231200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:40229200-40231200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr13:40229200-40231200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr13:40229400-40229800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:40229400-40229800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:40229400-40229800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:40229400-40229800	Flanking Active TSS	HUVEC	blood vessel
39	chr13:40229400-40230200	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr13:40229400-40230200	Active TSS	Primary T cells fromperipheralblood	blood
41	chr13:40229400-40230200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:40229400-40230400	Active TSS	Primary T cells from cord blood	blood
43	chr13:40229400-40230400	Active TSS	Primary hematopoietic stem cells	blood
44	chr13:40229400-40230400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr13:40229400-40230400	Active TSS	Brain Germinal Matrix	brain
46	chr13:40229400-40230400	Active TSS	Duodenum Mucosa	Duodenum
47	chr13:40229400-40230400	Active TSS	Fetal Brain Female	brain
48	chr13:40229400-40230400	Active TSS	Fetal Muscle Leg	muscle
49	chr13:40229400-40230400	Active TSS	Stomach Mucosa	stomach
50	chr13:40229400-40230600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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