Variant report

Variant	rs34584636
Chromosome Location	chr3:50607064-50607065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr3:50606481-50607192	GM12878	blood:	n/a	n/a
2	TCF12	chr3:50606166-50607404	ECC-1	luminal epithelium:	n/a	chr3:50606313-50606320
3	POLR2A	chr3:50606335-50607138	GM10847	blood:	n/a	n/a
4	POLR2A	chr3:50606415-50607152	K562	blood:	n/a	n/a
5	HA-E2F1	chr3:50606352-50607102	MCF-7	breast:	n/a	chr3:50606885-50606892
6	GTF2F1	chr3:50606798-50607076	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr3:50606219-50607110	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr3:50606308-50607166	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr3:50606402-50607111	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:50606147-50607227	PFSK-1	brain:	n/a	n/a
11	TAF1	chr3:50606364-50607246	HepG2	liver:	n/a	n/a
12	BRCA1	chr3:50606783-50607095	GM12878	blood:	n/a	n/a
13	TCF12	chr3:50606243-50607289	A549	lung:	n/a	chr3:50606313-50606320
14	SIN3AK20	chr3:50606281-50607199	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr3:50606246-50607343	H1-hESC	embryonic stem cell:	n/a	chr3:50606486-50606499
16	POLR2A	chr3:50606205-50607210	K562	blood:	n/a	n/a
17	USF2	chr3:50606512-50607169	GM12878	blood:	n/a	n/a
18	ELK1	chr3:50606409-50607122	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:50606334-50607115	A549	lung:	n/a	n/a
20	GABPA	chr3:50606147-50607404	MCF-7	breast:	n/a	n/a
21	ZBTB7A	chr3:50606183-50607283	ECC-1	luminal epithelium:	n/a	n/a
22	JUND	chr3:50606472-50607092	A549	lung:	n/a	n/a
23	MYC	chr3:50606540-50607110	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr3:50606342-50607349	Hela-S3	cervix:	n/a	n/a
25	MAX	chr3:50606320-50607272	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr3:50606321-50607257	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr3:50606729-50607104	A549	lung:	n/a	n/a
28	NFIC	chr3:50606291-50607197	ECC-1	luminal epithelium:	n/a	n/a
29	EGR1	chr3:50606364-50607074	ECC-1	luminal epithelium:	n/a	chr3:50606975-50606990 chr3:50606520-50606542 chr3:50606605-50606615 chr3:50606605-50606616 chr3:50606522-50606536 chr3:50606605-50606615
30	IRF1	chr3:50606307-50607119	K562	blood:	n/a	chr3:50606599-50606613 chr3:50606520-50606534
31	ATF2	chr3:50606609-50607187	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr3:50606194-50607213	U87	brain:	n/a	n/a
33	POLR2A	chr3:50606430-50607425	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr3:50606468-50607181	K562	blood:	n/a	n/a
35	TFAP2A	chr3:50606187-50607261	Hela-S3	cervix:	n/a	chr3:50606505-50606520 chr3:50606503-50606518 chr3:50606503-50606515
36	MAX	chr3:50606339-50607267	Hela-S3	cervix:	n/a	n/a
37	POU2F2	chr3:50606695-50607080	GM12878	blood:	n/a	chr3:50606973-50606985
38	MTA3	chr3:50606153-50607337	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:50606292-50607282	GM18505	blood:	n/a	n/a
40	POLR2A	chr3:50606357-50607284	H1-hESC	embryonic stem cell:	n/a	n/a
41	SP1	chr3:50606315-50607075	HepG2	liver:	n/a	chr3:50606573-50606583 chr3:50606523-50606533 chr3:50606523-50606533 chr3:50606523-50606532 chr3:50606573-50606583 chr3:50606601-50606613 chr3:50606981-50606991 chr3:50606601-50606613 chr3:50606981-50606991
42	POLR2A	chr3:50606256-50607317	HUVEC	blood vessel:	n/a	n/a
43	GABPA	chr3:50606354-50607140	HepG2	liver:	n/a	n/a
44	ELF1	chr3:50606269-50607204	SK-N-SH	brain:	n/a	chr3:50606897-50606906 chr3:50606895-50606906 chr3:50606895-50606906
45	PBX3	chr3:50606269-50607257	SK-N-SH	brain:	n/a	n/a
46	USF1	chr3:50606620-50607092	A549	lung:	n/a	n/a
47	TBP	chr3:50606249-50607305	K562	blood:	n/a	n/a
48	TCF7L2	chr3:50606523-50607185	HCT-116	colon:	n/a	n/a
49	POLR2A	chr3:50606393-50607161	HepG2	liver:	n/a	n/a
50	POLR2A	chr3:50606758-50607369	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:50605679..50607694-chr6:90346835..90349653,2	MCF-7	breast:
2	chr3:50606526..50611586-chr3:50612274..50616724,6	MCF-7	breast:
3	chr3:50375263..50377501-chr3:50606436..50608027,2	K562	blood:
4	chr20:30192559..30193100-chr3:50606513..50607376,2	Hela-S3	cervix:
5	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
6	chr3:50607017..50612379-chr3:51423330..51426962,5	MCF-7	breast:
7	chr3:50603678..50606532-chr3:50606738..50608762,2	K562	blood:
8	chr3:50606849..50607389-chr3:50649262..50649796,2	K562	blood:
9	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:

Variant related genes	Relation type
C3orf18	TF binding region
ENSG00000114738	Chromatin interaction
ENSG00000088543	Chromatin interaction
ENSG00000145050	Chromatin interaction
ENSG00000083099	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000114737	Chromatin interaction
ENSG00000068028	Chromatin interaction

Extended variants
information (count: 250 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:236)

rs_ID	r²[population]
rs1034405	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];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130255	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11710858	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11719998	0.84[EUR][1000 genomes]
rs12491425	0.85[EUR][1000 genomes]
rs12639126	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs129310	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13065995	0.88[AFR][1000 genomes]
rs13072085	0.82[AFR][1000 genomes]
rs13075344	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13075377	0.88[AFR][1000 genomes]
rs13076850	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13083004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084476	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13084771	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13085096	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13089719	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13091933	1.00[ASW][hapmap];0.94[CEU][hapmap];0.90[CHD][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13094336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs13094785	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs13095920	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13096264	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13096268	0.88[AFR][1000 genomes]
rs13096772	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13099712	0.88[AFR][1000 genomes]
rs13100403	0.88[AFR][1000 genomes]
rs1379873	0.82[AFR][1000 genomes]
rs1379874	0.82[AFR][1000 genomes]
rs1379875	0.82[AFR][1000 genomes]
rs1458386	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1458387	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1463496	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1463497	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1531271	0.82[AFR][1000 genomes]
rs1563683	1.00[AFR][1000 genomes]
rs175634	0.94[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs17660179	0.88[AFR][1000 genomes]
rs17660513	0.88[AFR][1000 genomes]
rs17787569	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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824280	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs1841067	0.82[AFR][1000 genomes]
rs1902960	1.00[AFR][1000 genomes]
rs1947607	0.88[AFR][1000 genomes]
rs1966920	0.88[AFR][1000 genomes]
rs1975834	0.89[AFR][1000 genomes]
rs201193	0.85[EUR][1000 genomes]
rs201194	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs201196	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201197	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs201198	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];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045510	0.88[AFR][1000 genomes]
rs2045511	0.88[AFR][1000 genomes]
rs2061388	0.88[AFR][1000 genomes]
rs2085582	0.82[AFR][1000 genomes]
rs2085584	0.82[AFR][1000 genomes]
rs2085585	0.82[AFR][1000 genomes]
rs2085586	0.82[AFR][1000 genomes]
rs2085587	0.88[AFR][1000 genomes]
rs2125364	0.88[AFR][1000 genomes]
rs2125366	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes]
rs2125369	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2168863	0.88[AFR][1000 genomes]
rs2168866	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2199050	0.88[AFR][1000 genomes]
rs2219431	0.82[AFR][1000 genomes]
rs2219432	0.82[AFR][1000 genomes]
rs2227280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2232248	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2232253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2262810	0.88[AFR][1000 genomes]
rs2269505	1.00[CEU][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs2269507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355323	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2355341	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2355696	0.88[AFR][1000 genomes]
rs2608988	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs2608989	1.00[AFR][1000 genomes]
rs2608993	0.88[AFR][1000 genomes]
rs2608997	0.88[AFR][1000 genomes]
rs2608999	0.88[AFR][1000 genomes]
rs2609001	0.88[AFR][1000 genomes]
rs2609005	0.88[AFR][1000 genomes]
rs2609006	0.88[AFR][1000 genomes]
rs2609016	0.82[AFR][1000 genomes]
rs2609018	0.82[AFR][1000 genomes]
rs2609019	0.82[AFR][1000 genomes]
rs2609020	0.88[AFR][1000 genomes]
rs2609021	0.88[AFR][1000 genomes]
rs2609022	0.88[AFR][1000 genomes]
rs2609024	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2609025	1.00[AFR][1000 genomes]
rs2609028	0.82[AFR][1000 genomes]
rs2609035	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2609036	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2609037	0.88[AFR][1000 genomes]
rs2675769	1.00[AFR][1000 genomes]
rs2675772	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2675773	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2675774	1.00[AFR][1000 genomes]
rs2675784	0.82[AFR][1000 genomes]
rs2675787	0.88[AFR][1000 genomes]
rs2675788	0.88[AFR][1000 genomes]
rs2675789	0.88[AFR][1000 genomes]
rs2675790	0.88[AFR][1000 genomes]
rs2675791	0.88[AFR][1000 genomes]
rs2675792	0.88[AFR][1000 genomes]
rs2675793	0.88[AFR][1000 genomes]
rs2675794	0.88[AFR][1000 genomes]
rs2675799	0.82[AFR][1000 genomes]
rs2675800	0.88[AFR][1000 genomes]
rs2675802	1.00[AFR][1000 genomes]
rs2675804	0.88[AFR][1000 genomes]
rs2675806	0.88[AFR][1000 genomes]
rs2675809	1.00[AFR][1000 genomes]
rs2675810	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2675812	0.88[AFR][1000 genomes]
rs2675813	0.88[AFR][1000 genomes]
rs2675821	0.82[AFR][1000 genomes]
rs2675822	0.82[AFR][1000 genomes]
rs2675825	0.82[AFR][1000 genomes]
rs2675827	0.88[AFR][1000 genomes]
rs2675828	0.88[AFR][1000 genomes]
rs2675829	0.88[AFR][1000 genomes]
rs2675830	0.88[AFR][1000 genomes]
rs2675832	0.88[AFR][1000 genomes]
rs2675834	0.88[AFR][1000 genomes]
rs2675835	0.82[AFR][1000 genomes]
rs2675836	0.88[AFR][1000 genomes]
rs2675837	0.88[AFR][1000 genomes]
rs2883652	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs3101107	0.88[AFR][1000 genomes]
rs3106826	0.88[AFR][1000 genomes]
rs34048522	0.88[AFR][1000 genomes]
rs34202063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34266990	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34267788	0.90[EUR][1000 genomes]
rs34320663	0.88[AFR][1000 genomes]
rs34390947	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34399912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434811	0.90[EUR][1000 genomes]
rs34492910	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34576538	0.88[AFR][1000 genomes]
rs34632971	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34756253	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34762184	1.00[ASW][hapmap];0.89[CHD][hapmap];1.00[YRI][hapmap]
rs34773360	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34846525	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34866096	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34889917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35098074	0.88[AFR][1000 genomes]
rs35140911	1.00[AFR][1000 genomes]
rs35170043	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35429015	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35531616	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35566897	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35655236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714264	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35864641	0.90[EUR][1000 genomes]
rs36011798	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs36057916	0.82[AFR][1000 genomes]
rs375544	0.86[TSI][hapmap]
rs3792328	0.86[TSI][hapmap]
rs3804627	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3804628	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs391620	0.86[EUR][1000 genomes]
rs3940822	0.88[AFR][1000 genomes]
rs396302	0.86[TSI][hapmap]
rs398703	0.85[EUR][1000 genomes]
rs399484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399971	0.88[EUR][1000 genomes]
rs417592	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs441516	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4429624	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs443030	0.89[EUR][1000 genomes]
rs4482663	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4533647	0.90[EUR][1000 genomes]
rs453570	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs4688702	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4688703	1.00[AFR][1000 genomes]
rs490634	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5000953	1.00[AFR][1000 genomes]
rs56837922	0.94[AFR][1000 genomes]
rs59909173	0.94[AFR][1000 genomes]
rs59949730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61142614	0.87[AFR][1000 genomes]
rs61549968	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs622502	0.88[EUR][1000 genomes]
rs628081	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6446214	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6446215	1.00[AFR][1000 genomes]
rs66867590	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs67316637	0.88[AFR][1000 genomes]
rs67410403	0.88[AFR][1000 genomes]
rs67425923	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67588094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768300	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6775012	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6778680	0.82[CEU][hapmap]
rs6779819	0.86[TSI][hapmap]
rs67813889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784166	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6787521	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6791880	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6796769	0.86[TSI][hapmap]
rs68191286	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs695170	0.90[EUR][1000 genomes]
rs71326937	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71326944	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs71326945	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs71329007	0.88[AFR][1000 genomes]
rs71329008	0.82[AFR][1000 genomes]
rs73072418	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73072438	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73072442	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73082948	0.88[EUR][1000 genomes]
rs73833888	0.88[AFR][1000 genomes]
rs73835540	0.94[AFR][1000 genomes]
rs750453	0.84[EUR][1000 genomes]
rs750510	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs7611428	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs7615703	0.86[TSI][hapmap]
rs7629253	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7646236	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7650574	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7652260	0.83[EUR][1000 genomes]
rs7652715	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs809451	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs809454	0.86[EUR][1000 genomes]
rs813243	0.86[TSI][hapmap]
rs936405	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs936406	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9830920	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9839684	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34584636	CAMP	cis	cerebellum	SCAN
rs34584636	APEH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50604200-50608400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:50604400-50607600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr3:50604400-50607600	Active TSS	Fetal Kidney	kidney
4	chr3:50604400-50608000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:50604600-50607600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:50604600-50607600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:50604600-50607800	Active TSS	Aorta	Aorta
8	chr3:50604600-50607800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr3:50604600-50607800	Active TSS	Psoas Muscle	Psoas
10	chr3:50604600-50608000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:50604600-50608000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:50604800-50607400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:50604800-50607600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:50604800-50607600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr3:50604800-50607600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:50604800-50607600	Active TSS	Esophagus	oesophagus
17	chr3:50604800-50607600	Active TSS	HSMMtube	muscle
18	chr3:50604800-50607800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:50604800-50607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr3:50604800-50607800	Active TSS	Ovary	ovary
21	chr3:50605000-50607400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:50605000-50607600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:50605000-50607600	Active TSS	HSMM	muscle
24	chr3:50605000-50607800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:50605000-50607800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr3:50605000-50608000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:50605000-50608200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr3:50605000-50608200	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:50605200-50607600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr3:50605200-50607800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:50605600-50607600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:50605600-50607600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:50605600-50607600	Active TSS	Thymus	Thymus
34	chr3:50605600-50607800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:50605600-50608200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr3:50605800-50607400	Active TSS	Brain Germinal Matrix	brain
37	chr3:50605800-50607400	Active TSS	Left Ventricle	heart
38	chr3:50605800-50607400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr3:50605800-50607400	Active TSS	Rectal Smooth Muscle	rectum
40	chr3:50605800-50607600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:50605800-50607600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:50605800-50607600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:50605800-50607600	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:50605800-50607600	Active TSS	Brain Hippocampus Middle	brain
45	chr3:50605800-50607600	Active TSS	Colon Smooth Muscle	Colon
46	chr3:50605800-50607600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr3:50605800-50607600	Active TSS	GM12878-XiMat	blood
48	chr3:50605800-50607600	Active TSS	Osteobl	bone
49	chr3:50605800-50607800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:50605800-50607800	Active TSS	Right Ventricle	heart

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