Variant report

Variant	rs12023052
Chromosome Location	chr1:213032568-213032569
allele	A/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	POLR2A	chr1:213031027-213032759	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr1:213031857-213032767	HEK293	kidney:	n/a	n/a
3	WRNIP1	chr1:213032476-213032639	GM12878	blood:	n/a	n/a
4	RUNX3	chr1:213032134-213032633	GM12878	blood:	n/a	n/a
5	ZNF263	chr1:213030951-213032903	HEK293-T-REx	kidney:	n/a	chr1:213031610-213031619
6	POLR2A	chr1:213029909-213032745	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:213030919-213032607	HL-60	blood:	n/a	n/a
8	RCOR1	chr1:213030771-213032596	K562	blood:	n/a	n/a
9	POLR2A	chr1:213030869-213032593	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:213030873-213032575	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:213030914-213032666	HepG2	liver:	n/a	n/a
12	YY1	chr1:213031097-213032597	HepG2	liver:	n/a	chr1:213031435-213031449 chr1:213031442-213031453 chr1:213031757-213031768
13	RUNX3	chr1:213032058-213032597	GM12878	blood:	n/a	n/a
14	ETS1	chr1:213031105-213032617	K562	blood:	n/a	chr1:213031458-213031469 chr1:213031607-213031618
15	POLR2A	chr1:213031089-213032666	K562	blood:	n/a	n/a
16	MYBL2	chr1:213032303-213032691	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:213030880-213032662	PFSK-1	brain:	n/a	n/a
18	RCOR1	chr1:213030464-213032619	IMR90	lung:	n/a	n/a
19	MAX	chr1:213030892-213032683	A549	lung:	n/a	chr1:213031632-213031639
20	SMARCC1	chr1:213030953-213032739	Hela-S3	cervix:	n/a	n/a
21	MYC	chr1:213030874-213032643	K562	blood:	n/a	chr1:213031632-213031639
22	POLR2A	chr1:213030863-213032588	GM19193	blood:	n/a	n/a
23	POLR2A	chr1:213031140-213032727	K562	blood:	n/a	n/a
24	CBX3	chr1:213030683-213032714	K562	blood:	n/a	n/a
25	EP300	chr1:213032496-213032687	K562	blood:	n/a	chr1:213032646-213032660
26	YY1	chr1:213030889-213032607	GM12878	blood:	n/a	chr1:213031435-213031449 chr1:213031442-213031453 chr1:213031757-213031768
27	POLR2A	chr1:213030843-213032591	HepG2	liver:	n/a	n/a
28	ZNF384	chr1:213032504-213032686	K562	blood:	n/a	chr1:213032578-213032586
29	POLR2A	chr1:213030961-213032596	GM18526	blood:	n/a	n/a
30	E2F6	chr1:213030987-213032613	K562	blood:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
31	SIN3A	chr1:213030873-213032652	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr1:213031991-213032572	K562	blood:	n/a	n/a
33	MAZ	chr1:213030833-213032587	IMR90	lung:	n/a	chr1:213031632-213031639
34	MAX	chr1:213030878-213032727	A549	lung:	n/a	chr1:213031632-213031639
35	TCF12	chr1:213032148-213032782	A549	lung:	n/a	n/a
36	POLR2A	chr1:213030204-213032910	K562	blood:	n/a	n/a
37	POLR2A	chr1:213030858-213032646	Hela-S3	cervix:	n/a	n/a
38	CREB1	chr1:213030839-213032619	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:213029989-213032779	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:213030995-213032572	GM19099	blood:	n/a	n/a
41	SMARCB1	chr1:213030743-213032608	Hela-S3	cervix:	n/a	n/a
42	USF2	chr1:213032489-213032691	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr1:213030544-213032747	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr1:213030900-213032577	H1-neurons	neurons:	n/a	n/a
45	MAX	chr1:213030906-213032723	HepG2	liver:	n/a	chr1:213031632-213031639
46	MAX	chr1:213030895-213032596	K562	blood:	n/a	chr1:213031632-213031639
47	GATA2	chr1:213030684-213032668	SH-SY5Y	brain:	n/a	n/a
48	CHD1	chr1:213032037-213032639	GM12878	blood:	n/a	n/a
49	MXI1	chr1:213030685-213032585	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:213031052-213032702	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
2	chr1:213032255..213037228-chr1:213037322..213040248,4	K562	blood:
3	chr1:213029061..213031968-chr1:213032486..213034078,2	K562	blood:
4	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
5	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
6	chr1:212965461..212968054-chr1:213031452..213034127,2	MCF-7	breast:
7	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
8	chr1:212977806..212980707-chr1:213030715..213033244,2	K562	blood:
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
ENSG00000236317	TF binding region
FLVCR1-AS1	TF binding region
FLVCR1	TF binding region
ENSG00000203705	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000236317	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000235182	Chromatin interaction
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1047881	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10746439	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10779585	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779586	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779587	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779589	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779590	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10779591	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10779592	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10779593	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10779595	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10864004	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs10864007	0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10864009	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864015	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864016	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10864018	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864020	0.84[CHB][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10864022	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10902	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs11120042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11120044	0.84[AMR][1000 genomes]
rs11120047	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]
rs11120049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120050	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11120053	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11120054	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11120055	0.87[ASN][1000 genomes]
rs11120056	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11120057	0.86[CHB][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11120059	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11120060	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11120064	0.81[ASN][1000 genomes]
rs11803450	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11806446	0.95[ASN][1000 genomes]
rs11808574	0.87[CHB][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12022540	0.92[ASN][1000 genomes]
rs12030572	0.93[ASN][1000 genomes]
rs12031546	0.88[ASN][1000 genomes]
rs12036698	0.88[ASN][1000 genomes]
rs12040103	0.88[ASN][1000 genomes]
rs12043346	0.91[ASN][1000 genomes]
rs12043852	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12048942	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs12069595	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12118361	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12122682	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12123978	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12136117	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12140831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12565125	0.81[ASN][1000 genomes]
rs12566087	0.88[ASN][1000 genomes]
rs12567713	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs12567728	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs12731517	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12735221	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12744746	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12756625	0.81[CEU][hapmap];0.91[CHB][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1284860	0.87[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs1472342	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1587174	0.87[ASN][1000 genomes]
rs17019818	0.87[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs17019870	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs17019873	0.87[ASN][1000 genomes]
rs1874416	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874417	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1874418	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874420	0.93[ASN][1000 genomes]
rs1890932	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs2047287	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2132431	0.93[ASN][1000 genomes]
rs2172983	0.85[ASN][1000 genomes]
rs2185487	0.85[ASN][1000 genomes]
rs2201601	0.81[AMR][1000 genomes]
rs2201602	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2201603	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2220949	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291771	0.88[ASN][1000 genomes]
rs2291772	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs2291773	0.81[CEU][hapmap];0.91[CHB][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2497959	0.91[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs2644548	0.91[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs3768548	0.87[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs3768550	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3768551	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs41296726	0.88[ASN][1000 genomes]
rs41297446	0.89[ASN][1000 genomes]
rs41300993	0.88[ASN][1000 genomes]
rs41301027	0.87[ASN][1000 genomes]
rs4951465	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951466	0.88[ASN][1000 genomes]
rs4951470	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs4951472	0.85[ASN][1000 genomes]
rs4951644	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951645	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951646	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951647	0.88[ASN][1000 genomes]
rs55793082	0.85[ASN][1000 genomes]
rs56178110	0.88[ASN][1000 genomes]
rs6540769	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6657416	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs6659996	0.87[CHB][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664909	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6666167	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6666277	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs6666356	0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6666368	0.86[CHB][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6685877	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6694190	0.83[YRI][hapmap]
rs6697428	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6700342	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6703156	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72743967	0.88[ASN][1000 genomes]
rs72743981	0.87[ASN][1000 genomes]
rs72743991	0.82[ASN][1000 genomes]
rs72743993	0.80[ASN][1000 genomes]
rs7512393	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7516718	0.87[CHB][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7516817	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7519166	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7522693	0.87[CHB][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7522877	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7524203	0.91[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap]
rs7528505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7530561	0.87[ASN][1000 genomes]
rs7531073	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7534973	0.87[CHB][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7536716	0.87[CHB][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7538797	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7544198	0.87[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs7544567	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7544645	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9787376	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[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
rs12023052	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs12023052	FLVCR1-AS1	cis	Stomach	GTEx
rs12023052	FLVCR1	cis	multi-tissue	Pritchard
rs12023052	FLVCR1-AS1	cis	Thyroid	GTEx
rs12023052	VASH2	Cis_1M	lymphoblastoid	RTeQTL
rs12023052	LQK1	cis	uninvolved skin	skin_eQTL
rs12023052	FLVCR	cis	multi-tissue	Pritchard
rs12023052	FLVCR1-AS1	cis	lung	GTEx
rs12023052	FLVCR1-AS1	cis	Artery Aorta	GTEx
rs12023052	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs12023052	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx
rs12023052	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs12023052	LQK1	cis	lesional skin	skin_eQTL
rs12023052	FLVCR1-AS1	cis	Muscle Skeletal	GTEx
rs12023052	FLVCR1-AS1	cis	Whole Blood	GTEx
rs12023052	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs12023052	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs12023052	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL
rs12023052	LQK1	cis	normal skin	skin_eQTL
rs12023052	FLVCR1-AS1	cis	Artery Tibial	GTEx
rs12023052	RP11-348H3.3	cis	multi-tissue	Pritchard
rs12023052	FLVCR1-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 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	chr1:213030000-213032800	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:213030400-213033400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:213030400-213034000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:213030400-213034000	Active TSS	HSMM	muscle
7	chr1:213030400-213034600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:213030400-213035600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:213030600-213033000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:213030600-213033200	Active TSS	A549	lung
11	chr1:213030600-213033800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:213030600-213034000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:213030600-213034000	Active TSS	GM12878-XiMat	blood
14	chr1:213030600-213034400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:213030600-213035000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:213030800-213032600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:213030800-213032800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:213030800-213032800	Active TSS	Fetal Intestine Large	intestine
19	chr1:213030800-213032800	Active TSS	Fetal Kidney	kidney
20	chr1:213030800-213032800	Active TSS	Fetal Lung	lung
21	chr1:213030800-213032800	Active TSS	Psoas Muscle	Psoas
22	chr1:213030800-213033400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:213030800-213033400	Active TSS	HSMMtube	muscle
24	chr1:213030800-213033800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:213030800-213033800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:213030800-213034200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:213030800-213035200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:213031000-213032600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:213031000-213032600	Active TSS	Small Intestine	intestine
30	chr1:213031000-213032600	Bivalent/Poised TSS	HepG2	liver
31	chr1:213031000-213033400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:213031200-213033200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:213031200-213033400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:213031800-213032600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:213031800-213032600	Flanking Active TSS	Colonic Mucosa	Colon
36	chr1:213031800-213032800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:213031800-213033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:213032000-213032600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:213032000-213032600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
40	chr1:213032000-213032600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr1:213032000-213032600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:213032000-213032600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr1:213032000-213032600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:213032000-213032800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:213032000-213032800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:213032000-213032800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:213032000-213033200	Active TSS	Brain Germinal Matrix	brain
48	chr1:213032000-213033400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:213032000-213033600	Flanking Active TSS	HMEC	breast
50	chr1:213032000-213034000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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