Variant report

Variant	rs6860493
Chromosome Location	chr5:43602713-43602714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43602342-43604392	HUVEC	blood vessel:	n/a	n/a
2	FOXM1	chr5:43602417-43603102	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:43602408-43603747	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr5:43602530-43602963	K562	blood:	n/a	n/a
5	MAX	chr5:43602029-43604259	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:43602018-43604302	GM12878	blood:	n/a	n/a
7	TCF12	chr5:43602628-43603392	A549	lung:	n/a	n/a
8	SIN3AK20	chr5:43602490-43603510	SK-N-SH	brain:	n/a	n/a
9	MYC	chr5:43602468-43604315	NB4	blood:	n/a	n/a
10	POLR2A	chr5:43602486-43603575	Raji	blood:	n/a	n/a
11	POLR2A	chr5:43602426-43602902	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr5:43602028-43604337	NB4	blood:	n/a	n/a
13	RCOR1	chr5:43602515-43603408	Hela-S3	cervix:	n/a	n/a
14	TBP	chr5:43602539-43603515	H1-hESC	embryonic stem cell:	n/a	n/a
15	CUX1	chr5:43601936-43603105	K562	blood:	n/a	n/a
16	POLR2A	chr5:43602140-43603549	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:43602032-43604360	GM12892	blood:	n/a	n/a
18	TBL1XR1	chr5:43601823-43603038	K562	blood:	n/a	n/a
19	MAX	chr5:43602385-43604222	K562	blood:	n/a	n/a
20	CHD2	chr5:43602519-43603537	Hela-S3	cervix:	n/a	n/a
21	JUND	chr5:43602581-43603430	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:43602041-43603507	IMR90	lung:	n/a	n/a
23	POLR2A	chr5:43602413-43604267	GM12892	blood:	n/a	n/a
24	TAF1	chr5:43602398-43602863	K562	blood:	n/a	n/a
25	POLR2A	chr5:43602398-43604433	HL-60	blood:	n/a	n/a
26	POLR2A	chr5:43601817-43603593	K562	blood:	n/a	n/a
27	POLR2A	chr5:43602650-43603411	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:43602557-43603430	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F4	chr5:43602705-43603828	K562	blood:	n/a	chr5:43603207-43603218 chr5:43603190-43603201 chr5:43602755-43602767
30	MAX	chr5:43602472-43603695	SK-N-SH	brain:	n/a	n/a
31	SMC3	chr5:43602504-43603518	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr5:43602396-43604049	K562	blood:	n/a	chr5:43603422-43603437 chr5:43603438-43603453 chr5:43603484-43603499
33	POLR2A	chr5:43602428-43603996	K562	blood:	n/a	n/a
34	POLR2A	chr5:43602470-43602930	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr5:43602425-43604573	HL-60	blood:	n/a	n/a
36	POLR2A	chr5:43602470-43603457	PFSK-1	brain:	n/a	n/a
37	GTF2F1	chr5:43602567-43603091	K562	blood:	n/a	n/a
38	RFX5	chr5:43601979-43604323	Hela-S3	cervix:	n/a	chr5:43604078-43604087
39	UBTF	chr5:43602484-43603582	K562	blood:	n/a	n/a
40	WRNIP1	chr5:43602520-43603070	GM12878	blood:	n/a	n/a
41	MAZ	chr5:43602007-43604155	K562	blood:	n/a	n/a
42	REST	chr5:43602483-43602744	Hela-S3	cervix:	n/a	n/a
43	YY1	chr5:43602503-43603502	GM12878	blood:	n/a	n/a
44	RAD21	chr5:43602510-43602725	SK-N-SH_RA	brain:	n/a	chr5:43602540-43602553
45	E2F4	chr5:43602681-43602798	MCF10A-Er-Src	breast:	n/a	chr5:43602755-43602767
46	GABPA	chr5:43602670-43603518	MCF-7	breast:	n/a	n/a
47	HEY1	chr5:43602461-43602777	K562	blood:	n/a	n/a
48	POLR2A	chr5:43602483-43603636	HepG2	liver:	n/a	n/a
49	UBTF	chr5:43602465-43603689	K562	blood:	n/a	n/a
50	TCF7L2	chr5:43602487-43603779	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43602666-43602716	AG04450	lung:	fetal
2	chr5:43602666-43602716	NB4	blood:	n/a
3	chr5:43602666-43602716	SK-N-SH_RA	brain:	n/a
4	chr5:43602666-43602716	IMR90	lung:	fetal
5	chr5:43602666-43602716	GM12878	blood:	n/a
6	chr5:43602666-43602716	AG04449	skin:	fetal
7	chr5:43602666-43602716	CMK	blood:	n/a
8	chr5:43602666-43602716	NT2-D1	testis:	n/a
9	chr5:43602666-43602716	HRE	kidney:	n/a
10	chr5:43602666-43602716	BE2_C	brain:	n/a
11	chr5:43602666-43602716	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:43602666-43602716	GM12892	blood:	n/a
13	chr5:43602666-43602716	HRCEpiC	kidney:	n/a
14	chr5:43602666-43602716	HNPCEpiC	eye:	n/a
15	chr5:43602666-43602716	HCF	heart:	n/a
16	chr5:43602666-43602716	RPTEC	kidney:	n/a
17	chr5:43602666-43602716	U87	brain:	n/a
18	chr5:43602666-43602716	H1-hESC	embryonic stem cell:	embryo
19	chr5:43602666-43602716	AG10803	skin:	n/a
20	chr5:43602666-43602716	HCT-116	colon:	n/a
21	chr5:43602666-43602716	SAEC	small airway:	n/a
22	chr5:43602666-43602716	NH-A	brain:	n/a
23	chr5:43602666-43602716	MCF10A-Er-Src	breast:	n/a
24	chr5:43602666-43602716	T-47D	breast:	n/a
25	chr5:43602666-43602716	AG09319	gingival:	n/a
26	chr5:43602666-43602716	AG09309	skin:	n/a
27	chr5:43602666-43602716	K562	blood:	n/a
28	chr5:43602666-43602716	PANC-1	pancreas:	n/a
29	chr5:43602666-43602716	PFSK-1	brain:	n/a
30	chr5:43602666-43602716	GM06990	blood:	n/a
31	chr5:43602666-43602716	ovcar-3	ovarian:	n/a
32	chr5:43602666-43602716	ProgFib	skin:	n/a
33	chr5:43602666-43602716	A549	lung:	n/a
34	chr5:43602666-43602716	HUVEC	blood vessel:	n/a
35	chr5:43602666-43602716	MCF-7	breast:	n/a
36	chr5:43602666-43602716	HAEpiC	amniotic membrane:	n/a
37	chr5:43602666-43602716	AoSMC	blood vessel:	n/a
38	chr5:43602666-43602716	Caco-2	colon:	n/a
39	chr5:43602666-43602716	HEEpiC	esophagus:	n/a
40	chr5:43602666-43602716	HIPEpiC	eye:	n/a
41	chr5:43602666-43602716	NHBE	bronchial:	n/a
42	chr5:43602666-43602716	GM19239	blood:	n/a
43	chr5:43602666-43602716	HRPEpiC	eye:	n/a
44	chr5:43602666-43602716	HCM	heart:	n/a
45	chr5:43602666-43602716	BJ	skin:	n/a
46	chr5:43602666-43602716	SKMC	muscle:	n/a
47	chr5:43602666-43602716	HMEC	breast:	n/a
48	chr5:43602666-43602716	HepG2	liver:	n/a
49	chr5:43602666-43602716	HEK293	kidney:	embryo
50	chr5:43602666-43602716	HCPEpiC	choroid plexus:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:10760718..10761290-chr5:43602427..43603392,2	Hela-S3	cervix:
2	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
3	chr16:69419430..69420020-chr5:43602627..43603395,2	Hela-S3	cervix:
4	chr5:43482042..43485833-chr5:43601604..43604541,3	MCF-7	breast:
5	chr5:43067084..43070080-chr5:43601534..43603658,2	K562	blood:
6	chr5:43512794..43515547-chr5:43602190..43604500,3	MCF-7	breast:
7	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
8	chr1:45986989..45987684-chr5:43602345..43603075,2	Hela-S3	cervix:
9	chr5:43120124..43122141-chr5:43601364..43602944,2	K562	blood:
10	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
11	chr5:43482483..43486113-chr5:43601084..43606081,7	K562	blood:
12	chr5:43540433..43542729-chr5:43600683..43602719,2	K562	blood:
13	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
14	chr5:43601763..43605743-chr5:43610640..43615837,7	K562	blood:
15	chr5:43475458..43478438-chr5:43602364..43603986,2	K562	blood:
16	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
17	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:

No data

Variant related genes	Relation type
NNT	TF binding region
NNT	CpG island
ENSG00000112992	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000112977	Chromatin interaction
ENSG00000251141	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000272324	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000132604	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10036954	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs10038608	0.96[MEX][hapmap]
rs10042992	0.96[MEX][hapmap]
rs10055801	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap]
rs10057103	0.96[MEX][hapmap]
rs10058558	0.96[MEX][hapmap]
rs10059912	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10059993	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061165	0.96[MEX][hapmap]
rs10065689	0.84[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10065863	0.96[MEX][hapmap]
rs10068064	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10074682	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10462051	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11949083	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11952832	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11958046	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12187908	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12332560	0.88[ASN][1000 genomes]
rs12521249	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12651879	0.86[ASN][1000 genomes]
rs12652547	0.96[MEX][hapmap]
rs12697457	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13189004	0.96[MEX][hapmap]
rs13189484	0.81[EUR][1000 genomes]
rs13359906	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1366410	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1389868	1.00[JPT][hapmap]
rs1593971	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2131998	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2172763	0.96[MEX][hapmap]
rs28437972	0.84[ASN][1000 genomes]
rs28606458	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776423	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs3806870	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4072918	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs4072919	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[ASN][1000 genomes]
rs4073848	0.96[MEX][hapmap]
rs4074777	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs4331909	0.84[ASN][1000 genomes]
rs4367306	0.96[MEX][hapmap]
rs4386738	0.82[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4428418	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4467713	0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs4535459	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4610465	0.81[EUR][1000 genomes]
rs4866752	0.95[MEX][hapmap]
rs4866833	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs4866835	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55667604	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55855322	0.84[ASN][1000 genomes]
rs56008952	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56097465	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59001943	0.84[ASN][1000 genomes]
rs59224335	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60297702	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6451695	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6451696	0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6451697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451698	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs6451699	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6451705	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs6451706	0.95[MEX][hapmap]
rs6451712	0.84[ASN][1000 genomes]
rs6451718	0.96[MEX][hapmap]
rs67261887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67581152	0.86[ASN][1000 genomes]
rs6862102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6866325	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6866802	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6869933	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6870018	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6878770	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs6884661	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6885679	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs6891363	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6895327	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs6896693	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs6898866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750582	0.96[MEX][hapmap]
rs750583	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7703662	0.96[CEU][hapmap]
rs7705166	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7706431	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7708369	0.96[MEX][hapmap]
rs7710628	0.83[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap]
rs7713479	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7715782	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7717636	0.88[ASN][1000 genomes]
rs7718627	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs7732656	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736108	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7736615	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7737793	0.84[EUR][1000 genomes]
rs9885189	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6860493	NNT	Cis_1M	lymphoblastoid	RTeQTL
rs6860493	NNT	cis	lymphoblastoid	seeQTL
rs6860493	NNT	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43600800-43604800	Active TSS	Psoas Muscle	Psoas
2	chr5:43600800-43605200	Active TSS	Right Atrium	heart
3	chr5:43601200-43603600	Active TSS	K562	blood
4	chr5:43601600-43602800	Flanking Active TSS	Hela-S3	cervix
5	chr5:43601600-43603000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:43601600-43603000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:43601600-43604400	Active TSS	GM12878-XiMat	blood
8	chr5:43601600-43604600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:43601800-43602800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr5:43601800-43602800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:43601800-43602800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr5:43601800-43602800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr5:43601800-43602800	Flanking Active TSS	Liver	Liver
14	chr5:43601800-43602800	Active TSS	Brain Germinal Matrix	brain
15	chr5:43601800-43602800	Flanking Active TSS	Osteobl	bone
16	chr5:43601800-43603000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:43601800-43603000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr5:43601800-43603000	Flanking Active TSS	HUVEC	blood vessel
19	chr5:43601800-43603000	Flanking Active TSS	NHEK	skin
20	chr5:43601800-43603400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:43601800-43603800	Active TSS	Fetal Muscle Trunk	muscle
22	chr5:43601800-43604000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:43601800-43604000	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr5:43601800-43604200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:43601800-43604400	Active TSS	Brain Hippocampus Middle	brain
26	chr5:43601800-43604600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:43601800-43604600	Active TSS	Fetal Brain Female	brain
28	chr5:43601800-43604800	Active TSS	Left Ventricle	heart
29	chr5:43602000-43602800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:43602000-43602800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr5:43602000-43602800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:43602000-43603000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr5:43602000-43603000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:43602000-43603600	Active TSS	Fetal Muscle Leg	muscle
35	chr5:43602000-43603800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:43602000-43603800	Active TSS	Stomach Smooth Muscle	stomach
37	chr5:43602000-43604400	Active TSS	Fetal Heart	heart
38	chr5:43602000-43604600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:43602000-43604600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:43602000-43604600	Active TSS	Aorta	Aorta
41	chr5:43602000-43604800	Active TSS	Right Ventricle	heart
42	chr5:43602200-43603000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr5:43602200-43603600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:43602200-43603600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr5:43602200-43603800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:43602200-43603800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:43602200-43603800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:43602200-43604000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:43602200-43604000	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr5:43602200-43604200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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