Variant report

Variant	rs7549619
Chromosome Location	chr1:227506948-227506949
allele	A/C
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	chr1:227505289-227507173	ProgFib	skin:	n/a	n/a
2	RAD21	chr1:227505939-227507197	SK-N-SH_RA	brain:	n/a	chr1:227506361-227506375 chr1:227506403-227506417
3	POLR2A	chr1:227505698-227507213	U87	brain:	n/a	n/a
4	MAX	chr1:227505869-227507296	MCF-7	breast:	n/a	n/a
5	MYC	chr1:227505894-227507287	K562	blood:	n/a	n/a
6	POLR2A	chr1:227505820-227507164	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:227505368-227507144	K562	blood:	n/a	n/a
8	HEY1	chr1:227505309-227507056	K562	blood:	n/a	chr1:227505900-227505915 chr1:227505654-227505669 chr1:227506721-227506736 chr1:227506549-227506564 chr1:227505897-227505912 chr1:227505819-227505834
9	POLR2A	chr1:227505416-227507157	GM19193	blood:	n/a	n/a
10	SIN3A	chr1:227504748-227507247	H1-hESC	embryonic stem cell:	n/a	chr1:227505012-227505021 chr1:227506503-227506512
11	POLR2A	chr1:227506795-227507132	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr1:227505788-227507269	K562	blood:	n/a	n/a
13	ZBTB7A	chr1:227505329-227506982	K562	blood:	n/a	chr1:227505472-227505481 chr1:227505745-227505756 chr1:227506007-227506016 chr1:227505746-227505757
14	POLR2A	chr1:227504718-227507432	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:227506889-227507081	A549	lung:	n/a	n/a
16	TAF1	chr1:227505277-227507245	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr1:227505293-227507153	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr1:227505824-227507124	NT2-D1	testis:	n/a	chr1:227506189-227506199 chr1:227506496-227506510 chr1:227506456-227506470 chr1:227505900-227505911 chr1:227506042-227506053 chr1:227505902-227505916 chr1:227505852-227505861 chr1:227505902-227505911 chr1:227506184-227506200 chr1:227505905-227505914 chr1:227505905-227505919 chr1:227506177-227506199 chr1:227506403-227506417
19	MYC	chr1:227505854-227507170	K562	blood:	n/a	n/a
20	POLR2A	chr1:227506869-227507121	HCT-116	colon:	n/a	n/a
21	ZBTB7A	chr1:227505904-227506977	ECC-1	luminal epithelium:	n/a	chr1:227506007-227506016
22	POLR2A	chr1:227505680-227507213	U87	brain:	n/a	n/a
23	TAF1	chr1:227505760-227507250	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr1:227505363-227507068	PBDE	blood:	n/a	n/a
25	TEAD4	chr1:227506811-227507156	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr1:227506691-227507190	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr1:227506940-227507090	HEEpiC	esophagus:	n/a	n/a
28	TBP	chr1:227505841-227507243	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:227505265-227507104	K562	blood:	n/a	n/a
30	MAX	chr1:227505308-227507250	K562	blood:	n/a	chr1:227505850-227505860 chr1:227505313-227505322 chr1:227505659-227505669
31	TBL1XR1	chr1:227506540-227507131	K562	blood:	n/a	n/a
32	POLR2A	chr1:227503661-227507169	HUVEC	blood vessel:	n/a	n/a
33	RCOR1	chr1:227506360-227507485	K562	blood:	n/a	n/a
34	REST	chr1:227506722-227507163	SK-N-SH	brain:	n/a	chr1:227506937-227506946
35	CHD1	chr1:227506425-227507301	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:227505778-227507264	U87	brain:	n/a	n/a
37	POLR2A	chr1:227505136-227507250	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr1:227505792-227507122	HCT-116	colon:	n/a	n/a
39	POLR2A	chr1:227505180-227507349	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr1:227505928-227507236	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr1:227505751-227507252	HepG2	liver:	n/a	chr1:227505850-227505860
42	SIN3AK20	chr1:227505782-227507214	SK-N-SH	brain:	n/a	n/a
43	MXI1	chr1:227506291-227507416	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF143	chr1:227506796-227507159	K562	blood:	n/a	n/a
45	ZNF263	chr1:227505318-227507155	HEK293-T-REx	kidney:	n/a	n/a
46	SP1	chr1:227505826-227507135	A549	lung:	n/a	chr1:227506371-227506383 chr1:227506372-227506381 chr1:227506371-227506383 chr1:227505998-227506012
47	POLR2A	chr1:227506704-227507153	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr1:227506797-227507083	SK-N-SH	brain:	n/a	n/a
49	YY1	chr1:227505774-227507182	SK-N-SH_RA	brain:	n/a	chr1:227506189-227506199 chr1:227506496-227506510 chr1:227506456-227506470 chr1:227505900-227505911 chr1:227506042-227506053 chr1:227505902-227505916 chr1:227505852-227505861 chr1:227505902-227505911 chr1:227506184-227506200 chr1:227505905-227505914 chr1:227505905-227505919 chr1:227506177-227506199 chr1:227506403-227506417
50	POLR2A	chr1:227505293-227507055	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
2	chr1:227365298..227367002-chr1:227505047..227506997,2	K562	blood:
3	chr1:227125150..227128196-chr1:227505421..227508280,4	MCF-7	breast:
4	chr1:227126362..227128612-chr1:227504788..227507568,2	MCF-7	breast:
5	chr1:227438042..227439910-chr1:227506389..227508258,2	K562	blood:
6	chr1:227506797..227508939-chr1:228352123..228354806,2	MCF-7	breast:
7	chr1:227505349..227507259-chr17:61552926..61555906,2	MCF-7	breast:
8	chr1:227500962..227504758-chr1:227504964..227507747,3	MCF-7	breast:
9	chr1:227456938..227458930-chr1:227506800..227508531,2	K562	blood:
10	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
11	chr1:227505544..227508414-chr1:227579779..227582450,2	MCF-7	breast:
12	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
13	chr1:227506214..227507997-chr1:227555860..227558711,2	MCF-7	breast:

Variant related genes	Relation type
CDC42BPA	TF binding region
ENSG00000159640	Chromatin interaction
ENSG00000143776	Chromatin interaction
ENSG00000234277	Chromatin interaction
ENSG00000163050	Chromatin interaction
ENSG00000242757	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000228625	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 224 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:217)

rs_ID	r²[population]
rs10495251	0.88[ASN][1000 genomes]
rs10495252	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10495254	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753430	0.86[JPT][hapmap]
rs10916099	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10916103	0.87[AMR][1000 genomes]
rs10916115	0.88[ASN][1000 genomes]
rs11799960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11800390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11800982	0.86[ASN][1000 genomes]
rs11801500	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11801885	0.87[ASN][1000 genomes]
rs11802394	0.87[ASN][1000 genomes]
rs11803664	0.80[ASN][1000 genomes]
rs11804613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804709	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11805097	0.88[ASN][1000 genomes]
rs11805221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11805679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11805859	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806180	1.00[ASN][1000 genomes]
rs11806188	1.00[ASN][1000 genomes]
rs11807620	1.00[ASN][1000 genomes]
rs11810471	1.00[ASN][1000 genomes]
rs11811972	0.87[ASN][1000 genomes]
rs11812018	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12402087	0.82[ASN][1000 genomes]
rs12407020	1.00[ASN][1000 genomes]
rs12407033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12409411	0.86[ASN][1000 genomes]
rs12410073	0.87[ASN][1000 genomes]
rs12410267	0.86[ASN][1000 genomes]
rs1355817	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs1398861	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1464075	0.93[AMR][1000 genomes]
rs1513604	0.83[ASN][1000 genomes]
rs1513606	0.83[ASN][1000 genomes]
rs1513615	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs1513621	0.93[AMR][1000 genomes]
rs1513622	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1543102	0.86[JPT][hapmap]
rs1546558	0.83[AMR][1000 genomes]
rs1606550	0.83[AMR][1000 genomes]
rs16847571	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16847574	0.86[ASN][1000 genomes]
rs16847582	0.88[ASN][1000 genomes]
rs16847612	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16847617	0.99[ASN][1000 genomes]
rs16847618	0.99[ASN][1000 genomes]
rs16847625	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16847628	1.00[ASN][1000 genomes]
rs16847631	1.00[ASN][1000 genomes]
rs16847643	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847647	1.00[ASN][1000 genomes]
rs16847649	1.00[ASN][1000 genomes]
rs1849548	0.83[AMR][1000 genomes]
rs1877619	0.82[AMR][1000 genomes]
rs1913342	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs1913343	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1996133	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2063666	0.83[AMR][1000 genomes]
rs2102635	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2102636	0.83[ASN][1000 genomes]
rs2102637	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2102639	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs2203279	0.85[AMR][1000 genomes]
rs2313499	0.84[AMR][1000 genomes]
rs2670443	0.93[AMR][1000 genomes]
rs2670447	0.83[AMR][1000 genomes]
rs2670448	0.93[AMR][1000 genomes]
rs2670451	0.83[AMR][1000 genomes]
rs2670454	0.85[AMR][1000 genomes]
rs2670457	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2670458	0.82[AMR][1000 genomes]
rs2670466	0.93[AMR][1000 genomes]
rs2670472	0.93[AMR][1000 genomes]
rs2718197	0.83[AMR][1000 genomes]
rs2718198	0.91[AMR][1000 genomes]
rs2718199	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs2718200	0.83[AMR][1000 genomes]
rs2718211	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2718213	0.93[AMR][1000 genomes]
rs2718215	0.83[ASN][1000 genomes]
rs2718216	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs2718217	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs2718218	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs2813945	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2813946	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2813951	0.93[AMR][1000 genomes]
rs2813952	0.93[AMR][1000 genomes]
rs2813954	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2813961	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs2813962	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2813963	0.83[AMR][1000 genomes]
rs2813973	0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs2813975	0.83[AMR][1000 genomes]
rs2813981	0.93[AMR][1000 genomes]
rs2813982	0.83[AMR][1000 genomes]
rs3127003	0.84[AMR][1000 genomes]
rs35903393	0.83[AMR][1000 genomes]
rs3768434	0.87[AMR][1000 genomes]
rs3795455	0.83[ASN][1000 genomes]
rs3795456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4233223	0.87[ASN][1000 genomes]
rs4276876	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4281297	0.99[ASN][1000 genomes]
rs4284230	0.99[ASN][1000 genomes]
rs4292922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4298700	0.99[ASN][1000 genomes]
rs4306096	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4323672	0.87[AMR][1000 genomes]
rs4344297	0.97[ASN][1000 genomes]
rs4415529	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4500280	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4545305	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4568795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4582756	0.85[AMR][1000 genomes]
rs4595342	0.84[AMR][1000 genomes]
rs4653488	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4653490	0.99[ASN][1000 genomes]
rs4653492	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4653493	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4653494	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4653809	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs4653814	0.84[ASN][1000 genomes]
rs4653816	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4653817	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4653818	1.00[ASN][1000 genomes]
rs4653819	1.00[ASN][1000 genomes]
rs4653820	1.00[ASN][1000 genomes]
rs4653821	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56703671	0.86[ASN][1000 genomes]
rs56830706	0.88[ASN][1000 genomes]
rs572561	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs58442442	0.88[ASN][1000 genomes]
rs58912604	0.93[ASN][1000 genomes]
rs59187211	0.99[ASN][1000 genomes]
rs59472079	0.91[ASN][1000 genomes]
rs59562576	0.95[ASN][1000 genomes]
rs59596249	1.00[ASN][1000 genomes]
rs59981133	0.88[ASN][1000 genomes]
rs60115015	0.88[ASN][1000 genomes]
rs60117206	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60585433	0.88[ASN][1000 genomes]
rs60592061	1.00[ASN][1000 genomes]
rs60693965	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426571	0.83[AMR][1000 genomes]
rs6426580	0.87[AMR][1000 genomes]
rs6426582	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6426589	0.87[AMR][1000 genomes]
rs66475802	0.88[ASN][1000 genomes]
rs66496813	0.82[ASN][1000 genomes]
rs66523880	0.99[ASN][1000 genomes]
rs6670934	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs66738032	1.00[ASN][1000 genomes]
rs66765246	0.99[ASN][1000 genomes]
rs6691882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6693234	0.99[ASN][1000 genomes]
rs6695387	0.87[AMR][1000 genomes]
rs6700070	0.89[AMR][1000 genomes]
rs6700591	0.87[AMR][1000 genomes]
rs67070254	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67316436	0.88[ASN][1000 genomes]
rs67343460	0.87[ASN][1000 genomes]
rs67400293	0.88[ASN][1000 genomes]
rs67715027	0.88[ASN][1000 genomes]
rs67723257	1.00[ASN][1000 genomes]
rs68043093	1.00[ASN][1000 genomes]
rs68077109	0.99[ASN][1000 genomes]
rs68133756	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72632804	0.83[ASN][1000 genomes]
rs72632805	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72632806	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72632807	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72632809	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72632810	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72632811	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72632812	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72632813	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72632814	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72632815	0.88[ASN][1000 genomes]
rs72632816	0.88[ASN][1000 genomes]
rs72632818	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72632819	0.98[ASN][1000 genomes]
rs72632820	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72632821	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72632822	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72632823	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72632824	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72632825	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7416327	0.83[AMR][1000 genomes]
rs7513776	0.99[ASN][1000 genomes]
rs7514796	0.99[ASN][1000 genomes]
rs7519849	0.88[ASN][1000 genomes]
rs7520769	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7530080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7535202	0.82[AMR][1000 genomes]
rs7538743	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs7539423	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7540055	0.86[JPT][hapmap]
rs7540775	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7541365	0.87[AMR][1000 genomes]
rs7541499	1.00[ASN][1000 genomes]
rs7545239	0.87[AMR][1000 genomes]
rs7549515	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552957	1.00[ASN][1000 genomes]
rs7553315	0.87[AMR][1000 genomes]
rs7554168	1.00[ASN][1000 genomes]
rs7555278	0.83[AMR][1000 genomes]
rs7556319	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9426548	0.89[AMR][1000 genomes]
rs9426555	0.83[ASN][1000 genomes]
rs9426556	0.83[ASN][1000 genomes]
rs9426609	0.80[AMR][1000 genomes]
rs9426619	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9426620	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3390376	chr1:227505104-227507452	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7549619	CDC42BPA	cis	cerebellar cortex	BrainEAC
rs7549619	CNIH4	cis	cerebellum	SCAN
rs7549619	CDC42BPA	cis	cerebellum	SCAN
rs7549619	DNAH14	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227501400-227507000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:227501600-227507000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:227501800-227507000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:227501800-227507000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:227501800-227507000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:227501800-227507000	Active TSS	Fetal Kidney	kidney
7	chr1:227501800-227507200	Active TSS	Duodenum Mucosa	Duodenum
8	chr1:227501800-227507200	Active TSS	NHDF-Ad	bronchial
9	chr1:227502000-227507000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:227502000-227507000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:227502000-227507000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:227502000-227507000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:227502000-227507000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:227502000-227507000	Active TSS	Brain Angular Gyrus	brain
15	chr1:227502000-227507000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:227502000-227507000	Active TSS	Brain Substantia Nigra	brain
17	chr1:227502000-227507000	Active TSS	HSMMtube	muscle
18	chr1:227502000-227507200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:227502000-227507200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:227502000-227507200	Active TSS	Psoas Muscle	Psoas
21	chr1:227502200-227507000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:227502200-227507200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:227502200-227507600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:227502400-227507000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:227502600-227507200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:227502800-227507000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:227503000-227507200	Active TSS	Osteobl	bone
28	chr1:227503200-227507000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:227503200-227507000	Active TSS	Brain Germinal Matrix	brain
30	chr1:227503200-227507000	Active TSS	Right Ventricle	heart
31	chr1:227503200-227507200	Active TSS	Colon Smooth Muscle	Colon
32	chr1:227503400-227507000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:227503400-227507000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:227503400-227507200	Active TSS	Aorta	Aorta
35	chr1:227503400-227507200	Active TSS	Ovary	ovary
36	chr1:227503600-227507000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:227503600-227507000	Active TSS	Left Ventricle	heart
38	chr1:227503600-227507200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:227503600-227507200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:227503600-227507200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:227504000-227507200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:227504600-227507000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:227504600-227507000	Active TSS	Pancreas	Pancrea
44	chr1:227504800-227507000	Active TSS	Gastric	stomach
45	chr1:227504800-227507200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:227505000-227507000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr1:227505200-227507000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:227505200-227507000	Active TSS	Esophagus	oesophagus
49	chr1:227505400-227507000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:227505400-227507000	Active TSS	Spleen	Spleen

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