Variant report

Variant	rs6451706
Chromosome Location	chr5:43482815-43482816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr5:43482787-43482952	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr5:43482536-43485365	SK-N-SH	brain:	n/a	n/a
3	GTF2F1	chr5:43482662-43483009	Hela-S3	cervix:	n/a	n/a
4	JUND	chr5:43482529-43483736	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr5:43482675-43482997	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr5:43482529-43485182	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr5:43482740-43482909	K562	blood:	n/a	n/a
8	FOS	chr5:43482655-43483447	MCF10A-Er-Src	breast:	n/a	n/a
9	TAL1	chr5:43482794-43484763	K562	blood:	n/a	n/a
10	MXI1	chr5:43482810-43483046	K562	blood:	n/a	n/a
11	POLR2A	chr5:43482241-43485297	K562	blood:	n/a	n/a
12	POLR2A	chr5:43482641-43485033	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr5:43482633-43483212	SK-N-SH	brain:	n/a	n/a
14	MXI1	chr5:43482507-43485320	IMR90	lung:	n/a	n/a
15	TEAD4	chr5:43482512-43483056	HepG2	liver:	n/a	n/a
16	SMARCC1	chr5:43482775-43484959	Hela-S3	cervix:	n/a	chr5:43483170-43483179
17	YY1	chr5:43482688-43482965	K562	blood:	n/a	n/a
18	RFX5	chr5:43482703-43484930	Hela-S3	cervix:	n/a	n/a
19	EP300	chr5:43482662-43483567	Hela-S3	cervix:	n/a	chr5:43483420-43483434
20	TEAD4	chr5:43482599-43483658	K562	blood:	n/a	n/a
21	ARID3A	chr5:43482697-43483526	HepG2	liver:	n/a	n/a
22	GATA3	chr5:43482682-43482907	T-47D	breast:	n/a	n/a
23	CEBPB	chr5:43482709-43483691	K562	blood:	n/a	chr5:43483423-43483434
24	POLR2A	chr5:43482591-43485156	MCF10A-Er-Src	breast:	n/a	n/a
25	IRF1	chr5:43482445-43482884	K562	blood:	n/a	chr5:43482517-43482537 chr5:43482589-43482602 chr5:43482534-43482543
26	TEAD4	chr5:43482528-43483057	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr5:43482707-43485134	Hela-S3	cervix:	n/a	chr5:43483423-43483434
28	JUND	chr5:43482692-43482951	HepG2	liver:	n/a	n/a
29	STAT3	chr5:43482514-43483548	Hela-S3	cervix:	n/a	chr5:43482789-43482797 chr5:43482786-43482794
30	TBL1XR1	chr5:43482702-43484726	K562	blood:	n/a	n/a
31	POLR2A	chr5:43482801-43482891	HUVEC	blood vessel:	n/a	n/a
32	PRDM1	chr5:43482735-43483596	Hela-S3	cervix:	n/a	chr5:43483280-43483289 chr5:43483054-43483068 chr5:43483278-43483293 chr5:43483055-43483064
33	BHLHE40	chr5:43482771-43483001	K562	blood:	n/a	n/a
34	ZC3H11A	chr5:43482661-43483427	K562	blood:	n/a	n/a
35	HEY1	chr5:43482593-43485100	K562	blood:	n/a	n/a
36	TBP	chr5:43482689-43484850	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:43482611-43485197	Hela-S3	cervix:	n/a	n/a
38	CUX1	chr5:43482700-43483634	K562	blood:	n/a	n/a
39	YY1	chr5:43482705-43482939	SK-N-SH_RA	brain:	n/a	n/a
40	UBTF	chr5:43482812-43484798	K562	blood:	n/a	n/a
41	HCFC1	chr5:43482127-43485449	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:43482539-43482978	K562	blood:	n/a	n/a
43	POLR2A	chr5:43482786-43483073	ProgFib	skin:	n/a	n/a
44	EP300	chr5:43482798-43483160	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43482804-43482854	HCT-116	colon:	n/a
2	chr5:43482804-43482854	NHDF-neo	bronchial:	n/a
3	chr5:43482804-43482854	IMR90	lung:	fetal
4	chr5:43482804-43482854	HCF	heart:	n/a
5	chr5:43482804-43482854	HepG2	liver:	n/a
6	chr5:43482804-43482854	ProgFib	skin:	n/a
7	chr5:43482804-43482854	HUVEC	blood vessel:	n/a
8	chr5:43482804-43482854	HEEpiC	esophagus:	n/a
9	chr5:43482804-43482854	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:43482804-43482854	GM06990	blood:	n/a
11	chr5:43482804-43482854	HMEC	breast:	n/a
12	chr5:43482804-43482854	SK-N-SH_RA	brain:	n/a
13	chr5:43482804-43482854	Hela-S3	cervix:	n/a
14	chr5:43482804-43482854	BJ	skin:	n/a
15	chr5:43482804-43482854	SAEC	small airway:	n/a
16	chr5:43482804-43482854	A549	lung:	n/a
17	chr5:43482804-43482854	HEK293	kidney:	embryo
18	chr5:43482804-43482854	HCPEpiC	choroid plexus:	n/a
19	chr5:43482804-43482854	NHBE	bronchial:	n/a
20	chr5:43482804-43482854	AG10803	skin:	n/a
21	chr5:43482804-43482854	Hepatocyte	liver:	n/a
22	chr5:43482804-43482854	T-47D	breast:	n/a
23	chr5:43482804-43482854	HRE	kidney:	n/a
24	chr5:43482804-43482854	HIPEpiC	eye:	n/a
25	chr5:43482804-43482854	NT2-D1	testis:	n/a
26	chr5:43482804-43482854	AG04450	lung:	fetal
27	chr5:43482804-43482854	GM12891	blood:	n/a
28	chr5:43482804-43482854	NH-A	brain:	n/a
29	chr5:43482804-43482854	Caco-2	colon:	n/a
30	chr5:43482804-43482854	AG04449	skin:	fetal
31	chr5:43482804-43482854	GM12892	blood:	n/a
32	chr5:43482804-43482854	PFSK-1	brain:	n/a
33	chr5:43482804-43482854	ECC-1	luminal epithelium:	n/a
34	chr5:43482804-43482854	U87	brain:	n/a
35	chr5:43482804-43482854	HL-60	blood:	n/a
36	chr5:43482804-43482854	K562	blood:	n/a
37	chr5:43482804-43482854	CMK	blood:	n/a
38	chr5:43482804-43482854	RPTEC	kidney:	n/a
39	chr5:43482804-43482854	PANC-1	pancreas:	n/a
40	chr5:43482804-43482854	PrEC	prostate:	n/a
41	chr5:43482804-43482854	AG09309	skin:	n/a
42	chr5:43482804-43482854	MCF10A-Er-Src	breast:	n/a
43	chr5:43482804-43482854	H1-hESC	embryonic stem cell:	embryo
44	chr5:43482804-43482854	GM12878	blood:	n/a
45	chr5:43482804-43482854	ovcar-3	ovarian:	n/a
46	chr5:43482804-43482854	HRPEpiC	eye:	n/a
47	chr5:43482804-43482854	LNCaP	prostate:	n/a
48	chr5:43482804-43482854	SKMC	muscle:	n/a
49	chr5:43482804-43482854	GM19239	blood:	n/a
50	chr5:43482804-43482854	HNPCEpiC	eye:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43192100..43194083-chr5:43481713..43484639,2	MCF-7	breast:
2	chr5:43120765..43125898-chr5:43482451..43485837,5	K562	blood:
3	chr5:43064858..43068068-chr5:43482667..43486392,7	K562	blood:
4	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
5	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:
6	chr5:43311997..43315552-chr5:43481611..43486076,8	MCF-7	breast:
7	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
8	chr5:43064382..43066342-chr5:43482298..43484520,2	MCF-7	breast:
9	chr5:43482483..43486113-chr5:43601084..43606081,7	K562	blood:
10	chr5:43073690..43076137-chr5:43481731..43483663,2	MCF-7	breast:
11	chr5:43394691..43398587-chr5:43480937..43485812,7	MCF-7	breast:
12	chr5:43482302..43485563-chr5:43510151..43513746,5	MCF-7	breast:
13	chr5:43395776..43403836-chr5:43482661..43487155,15	MCF-7	breast:
14	chr5:43119575..43121406-chr5:43482478..43484102,2	MCF-7	breast:
15	chr5:43481246..43484731-chr5:43603166..43606245,4	K562	blood:
16	chr5:43065608..43069318-chr5:43481836..43485606,6	MCF-7	breast:
17	chr5:43062770..43067811-chr5:43482181..43486392,9	K562	blood:
18	chr5:43006524..43009170-chr5:43481827..43484461,4	K562	blood:
19	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
20	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
21	chr5:43410322..43414589-chr5:43481701..43485572,7	K562	blood:
22	chr5:43452221..43453940-chr5:43481529..43483872,2	K562	blood:
23	chr5:43481630..43483307-chrX:118601909..118604577,2	MCF-7	breast:
24	chr5:43408350..43414682-chr5:43482713..43485961,9	MCF-7	breast:
25	chr5:43119639..43122584-chr5:43481498..43484654,4	K562	blood:
26	chr5:43482757..43485165-chr5:43504777..43508621,4	MCF-7	breast:
27	chr5:43458177..43460519-chr5:43482121..43483647,2	K562	blood:
28	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
29	chr5:43040725..43043389-chr5:43482013..43483748,2	MCF-7	breast:
30	chr5:43482042..43485833-chr5:43601604..43604541,3	MCF-7	breast:
31	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
32	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
33	chr5:43410262..43414589-chr5:43481541..43486559,6	K562	blood:
34	chr5:43311965..43313720-chr5:43482211..43483859,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249492	TF binding region
ENSG00000249492	CpG island
ENSG00000177453	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000005022	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000248554	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000177721	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000224281	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000215068	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10036954	0.92[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10038608	0.87[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10042992	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs10045400	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10045455	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10055801	0.91[MEX][hapmap]
rs10057103	0.87[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap]
rs10058558	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10059993	0.95[MEX][hapmap]
rs10061165	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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10065689	0.95[MEX][hapmap]
rs10065863	0.87[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap]
rs10074682	0.96[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10447144	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10462051	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10473311	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1072745	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1072746	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10941640	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11949083	0.95[MEX][hapmap]
rs12332560	0.83[EUR][1000 genomes]
rs12521249	0.95[MEX][hapmap]
rs12651879	0.83[EUR][1000 genomes]
rs12652547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs12659369	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12697452	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13185343	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13189004	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs1366410	0.95[MEX][hapmap]
rs1389868	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1389869	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1428640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2013173	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2131999	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2132000	0.95[EUR][1000 genomes]
rs2172763	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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34007811	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35710460	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35881272	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36013953	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776423	0.96[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3806870	1.00[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4072918	0.95[MEX][hapmap]
rs4072919	0.91[MEX][hapmap]
rs4073848	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4073850	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4073851	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4074777	0.95[MEX][hapmap]
rs4242099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4308491	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4331909	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4367306	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[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[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4386738	0.95[MEX][hapmap]
rs4415083	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4467713	0.96[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs4513704	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4535459	0.91[MEX][hapmap]
rs4541663	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4576155	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4866746	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866752	0.87[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap]
rs4866833	0.96[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs55641556	0.86[EUR][1000 genomes]
rs56400900	0.86[EUR][1000 genomes]
rs57547662	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57597020	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6451692	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6451693	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6451695	0.96[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451696	0.96[CEU][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451698	0.96[CEU][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451703	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6451704	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6451712	0.84[EUR][1000 genomes]
rs6451718	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs67466542	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67581152	0.82[EUR][1000 genomes]
rs6858942	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6859344	0.85[EUR][1000 genomes]
rs6860493	0.95[MEX][hapmap]
rs6861704	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6862102	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6865217	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6870018	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6870783	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878770	0.95[MEX][hapmap]
rs6883661	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884661	0.95[MEX][hapmap]
rs6885679	0.95[MEX][hapmap]
rs6895327	0.95[MEX][hapmap]
rs6896693	0.95[MEX][hapmap]
rs73100614	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs750582	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs750584	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7703662	0.94[JPT][hapmap];0.83[AMR][1000 genomes]
rs7707976	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7708369	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7708443	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7710628	0.91[MEX][hapmap]
rs7713479	0.95[MEX][hapmap]
rs7715782	0.95[MEX][hapmap]
rs7717636	0.83[EUR][1000 genomes]
rs7718627	0.95[MEX][hapmap]
rs7724571	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7731091	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7732656	0.95[MEX][hapmap]
rs7734393	0.85[EUR][1000 genomes]
rs7735243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9292883	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9686159	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9687341	0.82[EUR][1000 genomes]
rs9885467	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	esv1802134	chr5:43476545-43492449	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6451706	YY2	trans	cerebellum	SCAN
rs6451706	MGC42105	cis	lymphoblastoid	seeQTL
rs6451706	C5orf34	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
3	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
5	chr5:43468200-43483200	Weak transcription	Aorta	Aorta
6	chr5:43468800-43483400	Weak transcription	Ovary	ovary
7	chr5:43470200-43483000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:43470600-43483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:43470800-43483200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:43470800-43483200	Weak transcription	Placenta	Placenta
11	chr5:43470800-43483200	Weak transcription	Left Ventricle	heart
12	chr5:43472200-43483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:43472600-43483000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:43472800-43483200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:43474000-43483400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:43475000-43483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:43476600-43483400	Weak transcription	Lung	lung
18	chr5:43480600-43483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:43482200-43483000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:43482200-43484600	Active TSS	HSMMtube	muscle
21	chr5:43482400-43483000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:43482400-43483000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:43482400-43483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:43482400-43483200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:43482400-43483200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:43482400-43483200	Flanking Active TSS	HUVEC	blood vessel
27	chr5:43482400-43484600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:43482400-43484600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:43482400-43484600	Active TSS	A549	lung
30	chr5:43482400-43484600	Active TSS	GM12878-XiMat	blood
31	chr5:43482400-43484600	Active TSS	K562	blood
32	chr5:43482400-43484600	Active TSS	NHLF	lung
33	chr5:43482600-43483000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:43482600-43483000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:43482600-43483000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:43482600-43483000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:43482600-43483000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:43482600-43483000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr5:43482600-43483000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:43482600-43483000	Enhancers	Adipose Nuclei	Adipose
41	chr5:43482600-43483000	Enhancers	Liver	Liver
42	chr5:43482600-43483000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:43482600-43483200	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:43482600-43483200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:43482600-43483200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:43482600-43483200	Flanking Active TSS	Dnd41	blood
47	chr5:43482600-43483200	Flanking Active TSS	Osteobl	bone
48	chr5:43482600-43483400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:43482600-43483400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:43482600-43483400	Flanking Active TSS	Hela-S3	cervix

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