Variant report

Variant	rs11120047
Chromosome Location	chr1:213031948-213031949
allele	C/G
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	CREB1	chr1:213030786-213032031	GM12878	blood:	n/a	n/a
2	ZBTB7A	chr1:213030931-213032339	K562	blood:	n/a	n/a
3	SIN3AK20	chr1:213030942-213032476	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:213031027-213032759	MCF10A-Er-Src	breast:	n/a	n/a
5	HA-E2F1	chr1:213031256-213032467	Hela-S3	cervix:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
6	KAP1	chr1:213031857-213032767	HEK293	kidney:	n/a	n/a
7	E2F1	chr1:213031245-213032415	Hela-S3	cervix:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
8	BACH1	chr1:213031013-213032131	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:213030857-213032406	GM18505	blood:	n/a	n/a
10	UBTF	chr1:213030900-213032562	K562	blood:	n/a	n/a
11	MAX	chr1:213030940-213032497	SK-N-SH	brain:	n/a	chr1:213031632-213031639
12	MXI1	chr1:213031161-213032353	Hela-S3	cervix:	n/a	n/a
13	ZNF143	chr1:213031203-213032526	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:213031139-213032523	MCF-7	breast:	n/a	n/a
15	HCFC1	chr1:213030774-213032525	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr1:213030966-213032442	HepG2	liver:	n/a	n/a
17	ZNF263	chr1:213030951-213032903	HEK293-T-REx	kidney:	n/a	chr1:213031610-213031619
18	POLR2A	chr1:213029909-213032745	GM12891	blood:	n/a	n/a
19	CCNT2	chr1:213031017-213032445	K562	blood:	n/a	n/a
20	POLR2A	chr1:213030952-213032496	GM12878	blood:	n/a	n/a
21	E2F6	chr1:213030992-213032473	A549	lung:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
22	GATA3	chr1:213030830-213032386	A549	lung:	n/a	n/a
23	HMGN3	chr1:213031099-213032548	K562	blood:	n/a	n/a
24	POLR2A	chr1:213030858-213032515	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:213030919-213032607	HL-60	blood:	n/a	n/a
26	RCOR1	chr1:213030771-213032596	K562	blood:	n/a	n/a
27	MAX	chr1:213030929-213032442	ECC-1	luminal epithelium:	n/a	chr1:213031632-213031639
28	POLR2A	chr1:213030910-213031979	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:213031197-213032474	A549	lung:	n/a	n/a
30	SIN3AK20	chr1:213031018-213032388	K562	blood:	n/a	n/a
31	POLR2A	chr1:213031036-213031964	HUVEC	blood vessel:	n/a	n/a
32	SIN3AK20	chr1:213030981-213032041	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:213030869-213032593	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr1:213030873-213032575	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:213030914-213032666	HepG2	liver:	n/a	n/a
36	YY1	chr1:213031097-213032597	HepG2	liver:	n/a	chr1:213031435-213031449 chr1:213031442-213031453 chr1:213031757-213031768
37	POLR2A	chr1:213031943-213032562	GM12892	blood:	n/a	n/a
38	POLR2A	chr1:213031089-213032407	SK-N-MC	brain:	n/a	n/a
39	ETS1	chr1:213031105-213032617	K562	blood:	n/a	chr1:213031458-213031469 chr1:213031607-213031618
40	TBL1XR1	chr1:213031320-213032256	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:213031089-213032666	K562	blood:	n/a	n/a
42	POLR2A	chr1:213031024-213031967	Gliobla	brain:	n/a	n/a
43	PML	chr1:213030792-213032476	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:213031100-213032005	MCF-7	breast:	n/a	n/a
45	MAX	chr1:213030930-213031994	H1-hESC	embryonic stem cell:	n/a	chr1:213031632-213031639
46	MTA3	chr1:213030838-213032537	GM12878	blood:	n/a	n/a
47	E2F4	chr1:213031053-213032516	K562	blood:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
48	POLR2A	chr1:213031258-213031956	A549	lung:	n/a	n/a
49	MXI1	chr1:213031133-213031953	K562	blood:	n/a	n/a
50	POLR2A	chr1:213031042-213032445	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
3	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
4	chr1:213031563..213032232-chr19:2269946..2270753,2	Hela-S3	cervix:
5	chr1:212965461..212968054-chr1:213031452..213034127,2	MCF-7	breast:
6	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
7	chr1:212977806..212980707-chr1:213030715..213033244,2	K562	blood:
8	chr1:213031210..213032182-chr8:145641945..145642591,2	HCT-116	colon:
9	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:
10	chr1:213031674..213033675-chr1:213035938..213038632,2	MCF-7	breast:

Variant related genes	Relation type
FLVCR1	TF binding region
FLVCR1-AS1	TF binding region
ENSG00000236317	TF binding region
ENSG00000162769	Chromatin interaction
ENSG00000235182	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000236317	Chromatin interaction
ENSG00000147804	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000104904	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1047881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10746439	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779585	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779586	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779588	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779589	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10779590	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779592	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779593	0.84[AFR][1000 genomes]
rs10779595	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10864004	0.91[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs10864007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10864009	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10864010	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864015	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10864016	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10864018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10864020	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10864022	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10902	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11120042	0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11120043	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs11120049	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120050	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120053	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11120054	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120055	0.92[ASN][1000 genomes]
rs11120056	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120059	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120060	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120064	0.87[ASN][1000 genomes]
rs11803450	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11806446	0.94[ASN][1000 genomes]
rs11808574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12022540	0.96[ASN][1000 genomes]
rs12023052	0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12030572	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12031546	0.94[ASN][1000 genomes]
rs12036698	0.94[ASN][1000 genomes]
rs12040103	0.94[ASN][1000 genomes]
rs12042181	0.86[CHB][hapmap]
rs12043346	0.95[ASN][1000 genomes]
rs12043852	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12069595	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118361	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12122682	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12123978	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12125982	0.87[CHB][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12136117	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12140831	0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12565125	0.87[ASN][1000 genomes]
rs12566087	0.94[ASN][1000 genomes]
rs12567713	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs12567728	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs12731517	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12735221	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12744746	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1284860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1472342	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1587174	0.92[ASN][1000 genomes]
rs17019818	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17019870	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs17019873	0.92[ASN][1000 genomes]
rs1874416	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874417	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874418	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874420	0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1890932	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs2047287	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2132431	0.99[ASN][1000 genomes]
rs2172983	0.91[ASN][1000 genomes]
rs2185487	0.91[ASN][1000 genomes]
rs2201602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2201603	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2220949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279692	0.80[CEU][hapmap];0.91[CHB][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291771	0.94[ASN][1000 genomes]
rs2291772	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2291773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2497959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2644548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3768548	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3768550	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768551	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296726	0.94[ASN][1000 genomes]
rs41297446	0.95[ASN][1000 genomes]
rs41300993	0.94[ASN][1000 genomes]
rs41301027	0.92[ASN][1000 genomes]
rs4951465	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951466	0.94[ASN][1000 genomes]
rs4951470	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs4951472	0.91[ASN][1000 genomes]
rs4951644	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4951645	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951646	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951647	0.94[ASN][1000 genomes]
rs4951653	0.81[ASN][1000 genomes]
rs55793082	0.90[ASN][1000 genomes]
rs56178110	0.94[ASN][1000 genomes]
rs6540769	0.85[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6657416	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6659996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6664909	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666167	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6666368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6685877	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697428	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6703156	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72743967	0.94[ASN][1000 genomes]
rs72743981	0.92[ASN][1000 genomes]
rs72743991	0.88[ASN][1000 genomes]
rs72743993	0.86[ASN][1000 genomes]
rs7512393	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7516718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516817	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7519166	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7522693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7522877	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7524203	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7528505	0.87[CHB][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7530561	0.92[ASN][1000 genomes]
rs7531073	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7534973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7536716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7538797	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7544198	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7544567	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7544645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs963328	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9787376	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs11120047	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs11120047	FLVCR1-AS1	cis	Thyroid	GTEx
rs11120047	FLVCR1-AS1	cis	Nerve Tibial	GTEx
rs11120047	VASH2	Cis_1M	lymphoblastoid	RTeQTL
rs11120047	FLVCR1-AS1	cis	Artery Aorta	GTEx
rs11120047	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL
rs11120047	FLVCR1-AS1	cis	Muscle Skeletal	GTEx
rs11120047	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs11120047	FLVCR1-AS1	cis	Artery Tibial	GTEx
rs11120047	FLVCR1-AS1	cis	Whole Blood	GTEx
rs11120047	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs11120047	NSL1	Cis_1M	lymphoblastoid	RTeQTL
rs11120047	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs11120047	LQK1	cis	lesional skin	skin_eQTL
rs11120047	LQK1	cis	uninvolved skin	skin_eQTL
rs11120047	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs11120047	FLVCR1-AS1	cis	Stomach	GTEx
rs11120047	FLVCR	cis	multi-tissue	Pritchard
rs11120047	LQK1	cis	normal skin	skin_eQTL
rs11120047	FLVCR1	cis	multi-tissue	Pritchard
rs11120047	FLVCR1-AS1	cis	lung	GTEx
rs11120047	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213029600-213033200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:213029600-213033400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:213029800-213032000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:213030000-213032800	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:213030400-213032200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:213030400-213032200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:213030400-213033400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:213030400-213034000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:213030400-213034000	Active TSS	HSMM	muscle
10	chr1:213030400-213034600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:213030400-213035600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:213030600-213032000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:213030600-213032000	Active TSS	HMEC	breast
14	chr1:213030600-213032200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:213030600-213032200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:213030600-213032200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:213030600-213032200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:213030600-213032200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:213030600-213032200	Active TSS	Right Ventricle	heart
20	chr1:213030600-213033000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:213030600-213033200	Active TSS	A549	lung
22	chr1:213030600-213033800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:213030600-213034000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:213030600-213034000	Active TSS	GM12878-XiMat	blood
25	chr1:213030600-213034400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:213030600-213035000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:213030800-213032200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:213030800-213032200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:213030800-213032200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr1:213030800-213032200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:213030800-213032200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:213030800-213032200	Active TSS	Brain Angular Gyrus	brain
33	chr1:213030800-213032200	Active TSS	Brain Anterior Caudate	brain
34	chr1:213030800-213032200	Active TSS	Brain Hippocampus Middle	brain
35	chr1:213030800-213032200	Active TSS	Brain Substantia Nigra	brain
36	chr1:213030800-213032200	Active TSS	Fetal Brain Female	brain
37	chr1:213030800-213032200	Active TSS	Fetal Stomach	stomach
38	chr1:213030800-213032200	Active TSS	Left Ventricle	heart
39	chr1:213030800-213032200	Active TSS	Ovary	ovary
40	chr1:213030800-213032200	Active TSS	Pancreas	Pancrea
41	chr1:213030800-213032200	Active TSS	Thymus	Thymus
42	chr1:213030800-213032200	Active TSS	Hela-S3	cervix
43	chr1:213030800-213032200	Active TSS	NHEK	skin
44	chr1:213030800-213032400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:213030800-213032400	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:213030800-213032400	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:213030800-213032400	Active TSS	Fetal Heart	heart
48	chr1:213030800-213032400	Active TSS	NHDF-Ad	bronchial
49	chr1:213030800-213032600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:213030800-213032800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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