Variant report

Variant	rs726354
Chromosome Location	chr12:48500334-48500335
allele	A/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	TAF1	chr12:48499452-48500440	PFSK-1	brain:	n/a	n/a
2	RELA	chr12:48498987-48500647	GM19099	blood:	n/a	chr12:48499466-48499475 chr12:48499466-48499475
3	MAX	chr12:48499297-48500487	ECC-1	luminal epithelium:	n/a	chr12:48499796-48499806 chr12:48499930-48499940 chr12:48500194-48500203
4	SRF	chr12:48499535-48500442	MCF-7	breast:	n/a	chr12:48499685-48499695
5	SIN3AK20	chr12:48499335-48500594	MCF-7	breast:	n/a	n/a
6	YY1	chr12:48499309-48500356	ECC-1	luminal epithelium:	n/a	chr12:48499662-48499671 chr12:48499779-48499790 chr12:48499719-48499733 chr12:48499641-48499652
7	MAX	chr12:48499369-48500437	A549	lung:	n/a	chr12:48499796-48499806 chr12:48499930-48499940 chr12:48500194-48500203
8	MAX	chr12:48499372-48500340	HepG2	liver:	n/a	chr12:48499796-48499806 chr12:48499930-48499940 chr12:48500194-48500203
9	FOXM1	chr12:48499547-48500445	MCF-7	breast:	n/a	n/a
10	REST	chr12:48499192-48500488	A549	lung:	n/a	chr12:48499996-48500016 chr12:48500122-48500140
11	STAT1	chr12:48499228-48500587	GM12878	blood:	n/a	chr12:48499664-48499676 chr12:48499777-48499789 chr12:48499643-48499655 chr12:48500568-48500576
12	TAF1	chr12:48499107-48500695	ECC-1	luminal epithelium:	n/a	n/a
13	KAP1	chr12:48499790-48500394	U2OS	brain:	n/a	n/a
14	UBTF	chr12:48499046-48500421	K562	blood:	n/a	n/a
15	REST	chr12:48499649-48500345	PANC-1	pancreas:	n/a	chr12:48499996-48500016 chr12:48500122-48500140
16	MAZ	chr12:48499105-48500881	IMR90	lung:	n/a	chr12:48499796-48499806 chr12:48499930-48499940 chr12:48500194-48500203
17	ELK1	chr12:48499663-48500344	K562	blood:	n/a	n/a
18	EBF1	chr12:48499047-48500357	GM12878	blood:	n/a	chr12:48499440-48499449 chr12:48499439-48499449
19	SIN3A	chr12:48499325-48500609	GM12878	blood:	n/a	chr12:48499729-48499740
20	POLR2A	chr12:48498887-48501339	GM12878	blood:	n/a	n/a
21	BCLAF1	chr12:48499598-48500354	K562	blood:	n/a	chr12:48499816-48499829
22	POU2F2	chr12:48499550-48500375	GM12891	blood:	n/a	chr12:48499637-48499649
23	POLR2A	chr12:48499058-48500406	K562	blood:	n/a	n/a
24	POLR2A	chr12:48498983-48500410	GM15510	blood:	n/a	n/a
25	RUNX3	chr12:48498963-48500459	GM12878	blood:	n/a	n/a
26	GATA3	chr12:48499524-48500449	MCF-7	breast:	n/a	chr12:48500254-48500262 chr12:48500252-48500264
27	POLR2A	chr12:48498946-48500485	GM19099	blood:	n/a	n/a
28	CUX1	chr12:48499724-48500400	K562	blood:	n/a	n/a
29	MAX	chr12:48499042-48500633	Hela-S3	cervix:	n/a	chr12:48499796-48499806 chr12:48499930-48499940 chr12:48500194-48500203
30	GABPA	chr12:48499072-48500932	MCF-7	breast:	n/a	chr12:48499980-48499991 chr12:48499982-48499991 chr12:48499980-48499994 chr12:48499662-48499671
31	TAF1	chr12:48499243-48500422	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr12:48499525-48500476	A549	lung:	n/a	chr12:48499779-48499791 chr12:48499658-48499672 chr12:48499931-48499945 chr12:48499781-48499790 chr12:48499662-48499671 chr12:48499779-48499791 chr12:48499663-48499672 chr12:48499661-48499673 chr12:48499928-48499939 chr12:48499637-48499651 chr12:48499641-48499650 chr12:48499662-48499672 chr12:48499661-48499673 chr12:48499663-48499672 chr12:48499780-48499794 chr12:48499662-48499672 chr12:48499636-48499649 chr12:48499640-48499652 chr12:48499780-48499790
33	RFX5	chr12:48499014-48500490	Hela-S3	cervix:	n/a	chr12:48500193-48500208 chr12:48500193-48500208 chr12:48500193-48500208
34	POLR2A	chr12:48499036-48500494	GM18951	blood:	n/a	n/a
35	TAF1	chr12:48499118-48500443	ECC-1	luminal epithelium:	n/a	n/a
36	SRF	chr12:48499533-48500436	ECC-1	luminal epithelium:	n/a	chr12:48499685-48499695
37	SIX5	chr12:48499662-48500334	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:48499637-48500447	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr12:48498956-48500458	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:48499064-48500406	H1-neurons	neurons:	n/a	n/a
41	EP300	chr12:48499465-48500587	K562	blood:	n/a	chr12:48499719-48499735
42	BCLAF1	chr12:48498951-48500363	GM12878	blood:	n/a	chr12:48499465-48499474 chr12:48499816-48499829
43	MAX	chr12:48499644-48500366	NB4	blood:	n/a	chr12:48499796-48499806 chr12:48499930-48499940 chr12:48500194-48500203
44	RELA	chr12:48498308-48500398	GM12878	blood:	n/a	chr12:48499466-48499475 chr12:48499466-48499475
45	NR2F2	chr12:48499706-48500363	MCF-7	breast:	n/a	n/a
46	ELF1	chr12:48499435-48500349	K562	blood:	n/a	chr12:48499900-48499913 chr12:48499705-48499714 chr12:48499610-48499622
47	POLR2A	chr12:48499056-48500361	H1-neurons	neurons:	n/a	n/a
48	SMC3	chr12:48499679-48500443	GM12878	blood:	n/a	n/a
49	GTF2F1	chr12:48499065-48500758	Hela-S3	cervix:	n/a	n/a
50	EP300	chr12:48499048-48500707	GM12878	blood:	n/a	chr12:48499719-48499735

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48500294-48500344	T-47D	breast:	n/a
2	chr12:48500318-48500368	HRCEpiC	kidney:	n/a
3	chr12:48500294-48500344	HL-60	blood:	n/a
4	chr12:48500294-48500344	BJ	skin:	n/a
5	chr12:48500294-48500344	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:48500318-48500368	K562	blood:	n/a
7	chr12:48500318-48500368	SK-N-SH	brain:	n/a
8	chr12:48500318-48500368	T-47D	breast:	n/a
9	chr12:48500318-48500368	Jurkat	blood:	n/a
10	chr12:48500294-48500344	HCT-116	colon:	n/a
11	chr12:48500318-48500368	ECC-1	luminal epithelium:	n/a
12	chr12:48500294-48500344	ovcar-3	ovarian:	n/a
13	chr12:48500294-48500344	NHBE	bronchial:	n/a
14	chr12:48500318-48500368	BE2_C	brain:	n/a
15	chr12:48500294-48500344	HUVEC	blood vessel:	n/a
16	chr12:48500318-48500368	SK-N-SH_RA	brain:	n/a
17	chr12:48500294-48500344	ProgFib	skin:	n/a
18	chr12:48500318-48500368	AoSMC	blood vessel:	n/a
19	chr12:48500294-48500344	HNPCEpiC	eye:	n/a
20	chr12:48500294-48500344	HRE	kidney:	n/a
21	chr12:48500318-48500368	AG10803	skin:	n/a
22	chr12:48500294-48500344	Caco-2	colon:	n/a
23	chr12:48500318-48500368	GM19239	blood:	n/a
24	chr12:48500318-48500368	RPTEC	kidney:	n/a
25	chr12:48500318-48500368	GM12891	blood:	n/a
26	chr12:48500318-48500368	AG09309	skin:	n/a
27	chr12:48500294-48500344	HAEpiC	amniotic membrane:	n/a
28	chr12:48500318-48500368	BJ	skin:	n/a
29	chr12:48500318-48500368	MCF10A-Er-Src	breast:	n/a
30	chr12:48500318-48500368	NT2-D1	testis:	n/a
31	chr12:48500318-48500368	SAEC	small airway:	n/a
32	chr12:48500294-48500344	PANC-1	pancreas:	n/a
33	chr12:48500294-48500344	GM06990	blood:	n/a
34	chr12:48500318-48500368	HIPEpiC	eye:	n/a
35	chr12:48500294-48500344	HIPEpiC	eye:	n/a
36	chr12:48500318-48500368	HPAEpiC	pulmonary alveolar:	n/a
37	chr12:48500318-48500368	Caco-2	colon:	n/a
38	chr12:48500294-48500344	K562	blood:	n/a
39	chr12:48500294-48500344	BE2_C	brain:	n/a
40	chr12:48500318-48500368	NHBE	bronchial:	n/a
41	chr12:48500294-48500344	AG10803	skin:	n/a
42	chr12:48500318-48500368	PFSK-1	brain:	n/a
43	chr12:48500318-48500368	HUVEC	blood vessel:	n/a
44	chr12:48500318-48500368	HepG2	liver:	n/a
45	chr12:48500294-48500344	PFSK-1	brain:	n/a
46	chr12:48500294-48500344	AG04450	lung:	fetal
47	chr12:48500318-48500368	IMR90	lung:	fetal
48	chr12:48500318-48500368	SKMC	muscle:	n/a
49	chr12:48500294-48500344	GM19239	blood:	n/a
50	chr12:48500294-48500344	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48492914..48496557-chr12:48498180..48501677,4	MCF-7	breast:
2	chr12:48496939..48501728-chr12:48549612..48553634,6	MCF-7	breast:
3	chr12:48498567..48501846-chr12:48512929..48518601,8	MCF-7	breast:
4	chr12:48490196..48492740-chr12:48498056..48500665,3	MCF-7	breast:
5	chr12:48497586..48502171-chr12:48511099..48514258,8	MCF-7	breast:
6	chr12:48499494..48502600-chr12:48549917..48552067,4	MCF-7	breast:
7	chr12:48296929..48299891-chr12:48498540..48500341,2	MCF-7	breast:
8	chr12:48495831..48503326-chr12:48548997..48555180,8	K562	blood:
9	chr12:48497262..48501671-chr12:48511273..48513832,5	K562	blood:
10	chr12:48496389..48500489-chr12:48511491..48515053,4	K562	blood:
11	chr10:101190598..101191541-chr12:48499592..48500567,2	Hela-S3	cervix:

Variant related genes	Relation type
SENP1	TF binding region
SENP1	CpG island
ENSG00000177981	Chromatin interaction
ENSG00000079387	Chromatin interaction
ENSG00000258051	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000224934	Chromatin interaction
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1018973	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10492080	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]
rs1074174	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10783230	0.94[ASN][1000 genomes]
rs10783231	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs10783232	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs10875751	0.90[ASN][1000 genomes]
rs11168451	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11168455	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs11609399	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]
rs11612578	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs11612970	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11613485	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11613781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580764	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12581972	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12822085	1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs1476608	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1489111	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs17122565	0.82[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap]
rs17122611	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17122612	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17122613	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17122651	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1859441	0.91[ASW][hapmap];0.86[CEU][hapmap];0.82[LWK][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes]
rs1968071	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2258342	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap]
rs2634699	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2732455	0.85[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs2732477	0.85[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap]
rs2732487	0.85[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap]
rs3742074	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3825404	0.92[TSI][hapmap]
rs4075913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4293182	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4589362	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4760611	0.82[ASW][hapmap];0.86[CEU][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs4760614	0.83[EUR][1000 genomes]
rs4760615	0.81[EUR][1000 genomes]
rs4760620	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760677	0.83[EUR][1000 genomes]
rs4760683	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760685	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4760692	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4760698	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs57054831	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57380031	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57655233	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58046797	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58331734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59766465	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60567660	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60681522	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6580647	0.92[TSI][hapmap]
rs6580649	0.92[TSI][hapmap]
rs6580651	0.83[EUR][1000 genomes]
rs6580653	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6580656	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580660	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7133249	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72644842	0.83[EUR][1000 genomes]
rs72644843	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72644844	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72644845	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72644846	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72644847	0.98[EUR][1000 genomes]
rs7296913	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7305418	0.84[CEU][hapmap]
rs7305954	0.92[TSI][hapmap]
rs7310579	0.81[EUR][1000 genomes]
rs7312326	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7315258	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485057	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7485824	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs757556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7957764	0.81[EUR][1000 genomes]
rs7959755	0.93[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs7963934	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7967762	0.80[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap]
rs7969749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971668	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs879242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901964	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs9805048	0.92[TSI][hapmap]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised 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 miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs726354	ZNF641	cis	Whole Blood	GTEx
rs726354	ASB8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48496600-48500400	Active TSS	GM12878-XiMat	blood
2	chr12:48498200-48500400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:48498200-48500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:48498200-48500400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:48498200-48500400	Active TSS	NHDF-Ad	bronchial
6	chr12:48498200-48500600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:48498200-48500600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:48498400-48500400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:48498400-48500400	Active TSS	Colonic Mucosa	Colon
10	chr12:48498400-48500400	Active TSS	HSMMtube	muscle
11	chr12:48498400-48500600	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:48498600-48500400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:48498600-48500400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:48498600-48500400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:48498600-48500400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:48498600-48500400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:48498600-48500400	Active TSS	Fetal Thymus	thymus
18	chr12:48498600-48500400	Active TSS	Lung	lung
19	chr12:48498600-48500400	Active TSS	Psoas Muscle	Psoas
20	chr12:48498600-48500400	Active TSS	Right Ventricle	heart
21	chr12:48498600-48500400	Active TSS	K562	blood
22	chr12:48498600-48500600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr12:48498600-48500600	Active TSS	Left Ventricle	heart
24	chr12:48498800-48500400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:48498800-48500400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:48498800-48500400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:48498800-48500400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:48498800-48500400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:48498800-48500400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:48498800-48500400	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr12:48498800-48500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:48498800-48500400	Active TSS	Fetal Intestine Large	intestine
33	chr12:48498800-48500400	Active TSS	Fetal Intestine Small	intestine
34	chr12:48498800-48500400	Active TSS	Fetal Stomach	stomach
35	chr12:48498800-48500400	Active TSS	A549	lung
36	chr12:48498800-48500400	Active TSS	HMEC	breast
37	chr12:48498800-48500400	Active TSS	HSMM	muscle
38	chr12:48498800-48500400	Active TSS	NHLF	lung
39	chr12:48498800-48500600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr12:48498800-48500600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:48498800-48500600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr12:48499000-48500400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:48499000-48500400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr12:48499000-48500400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:48499000-48500400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:48499000-48500400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr12:48499000-48500400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:48499000-48500400	Active TSS	Colon Smooth Muscle	Colon
49	chr12:48499000-48500400	Active TSS	Esophagus	oesophagus
50	chr12:48499000-48500400	Active TSS	Fetal Heart	heart

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