Variant report

Variant	rs10912735
Chromosome Location	chr1:174128140-174128141
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	BHLHE40	chr1:174127962-174129636	K562	blood:	n/a	chr1:174128488-174128504
2	MAX	chr1:174128012-174128923	GM12878	blood:	n/a	n/a
3	JUND	chr1:174127997-174128905	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:174127564-174130052	Raji	blood:	n/a	n/a
5	NR2F2	chr1:174127922-174129594	K562	blood:	n/a	n/a
6	E2F6	chr1:174128017-174129102	A549	lung:	n/a	chr1:174128487-174128497 chr1:174129032-174129041 chr1:174128376-174128387
7	ATF1	chr1:174127630-174128539	K562	blood:	n/a	n/a
8	RCOR1	chr1:174128094-174128862	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr1:174127569-174128829	K562	blood:	n/a	n/a
10	POLR2A	chr1:174128044-174129014	ECC-1	luminal epithelium:	n/a	n/a
11	SREBP1	chr1:174125904-174128766	GM12878	blood:	n/a	n/a
12	EGR1	chr1:174128014-174129318	HCT-116	colon:	n/a	chr1:174128529-174128538 chr1:174129031-174129041 chr1:174128484-174128498 chr1:174128953-174128966
13	POLR2A	chr1:174127563-174129733	GM12878	blood:	n/a	n/a
14	MTA3	chr1:174127321-174128503	GM12878	blood:	n/a	n/a
15	NRF1	chr1:174128010-174128975	SK-N-SH	brain:	n/a	chr1:174128445-174128456 chr1:174128476-174128487
16	POLR2A	chr1:174127613-174129697	GM15510	blood:	n/a	n/a
17	SIN3AK20	chr1:174127618-174129756	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:174127680-174129746	PBDE	blood:	n/a	n/a
19	RELA	chr1:174127667-174129632	GM10847	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
20	RELA	chr1:174127358-174129544	GM19193	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
21	IRF1	chr1:174127960-174128920	K562	blood:	n/a	n/a
22	RELA	chr1:174126135-174129608	GM18505	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
23	POLR2A	chr1:174128115-174129623	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:174127833-174129498	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:174128027-174129139	SK-N-MC	brain:	n/a	n/a
26	SIN3A	chr1:174127905-174129648	H1-hESC	embryonic stem cell:	n/a	chr1:174128772-174128781
27	ZC3H11A	chr1:174127734-174128549	K562	blood:	n/a	n/a
28	POLR2A	chr1:174126096-174130044	GM12891	blood:	n/a	n/a
29	TBP	chr1:174128104-174129373	H1-hESC	embryonic stem cell:	n/a	n/a
30	HA-E2F1	chr1:174127857-174129602	MCF-7	breast:	n/a	chr1:174128487-174128497 chr1:174129032-174129041
31	ELF1	chr1:174127976-174129578	GM12878	blood:	n/a	chr1:174128771-174128783 chr1:174128486-174128495 chr1:174128489-174128498
32	BCLAF1	chr1:174127981-174129420	K562	blood:	n/a	chr1:174128435-174128444 chr1:174128489-174128502 chr1:174128486-174128499 chr1:174128958-174128971 chr1:174128770-174128783 chr1:174128485-174128494 chr1:174128488-174128497 chr1:174128832-174128845
33	POLR2A	chr1:174127926-174129757	K562	blood:	n/a	n/a
34	GTF2F1	chr1:174128138-174128890	K562	blood:	n/a	n/a
35	CHD1	chr1:174128085-174128331	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:174128059-174128951	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr1:174127434-174129743	GM12878	blood:	n/a	n/a
38	TAF1	chr1:174127947-174129209	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr1:174128091-174128984	MCF-7	breast:	n/a	n/a
40	TAF1	chr1:174128070-174128954	GM12892	blood:	n/a	n/a
41	POLR2A	chr1:174128039-174129442	K562	blood:	n/a	n/a
42	MAX	chr1:174128103-174129740	K562	blood:	n/a	n/a
43	RELA	chr1:174127098-174129765	GM12891	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
44	POLR2A	chr1:174128096-174129141	ProgFib	skin:	n/a	n/a
45	POLR2A	chr1:174127514-174129718	GM19193	blood:	n/a	n/a
46	ATF2	chr1:174127666-174128735	GM12878	blood:	n/a	n/a
47	RELA	chr1:174127802-174129604	GM15510	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
48	EBF1	chr1:174127867-174128196	GM12878	blood:	n/a	n/a
49	RELA	chr1:174127569-174129583	GM19099	blood:	n/a	chr1:174129361-174129370 chr1:174129361-174129370
50	RFX5	chr1:174127732-174129745	Hela-S3	cervix:	n/a	chr1:174129441-174129456

No.	Distal block	Cell Line	Cell type
1	chr1:173791511..173794568-chr1:174127376..174130126,4	K562	blood:
2	chr1:173990484..173993026-chr1:174127463..174130354,3	K562	blood:
3	chr1:173990191..173994093-chr1:174126470..174130234,3	MCF-7	breast:
4	chr1:174127938..174128894-chr2:24306476..24307311,2	Hela-S3	cervix:
5	chr1:173837020..173839325-chr1:174127377..174129524,4	K562	blood:
6	chr1:173835391..173837802-chr1:174127164..174130207,3	MCF-7	breast:
7	chr1:173836251..173838308-chr1:174127483..174129757,2	MCF-7	breast:
8	chr1:173991432..173994922-chr1:174124746..174129302,4	K562	blood:
9	chr1:174127972..174128721-chr3:57993847..57994573,2	Hela-S3	cervix:
10	chr1:174128038..174128892-chr9:139440176..139441167,2	Hela-S3	cervix:
11	chr1:173835729..173840438-chr1:174127915..174131019,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RC3H1-1	chr1:174128025-174128271	ENSG00000227373
2	lnc-RC3H1-1	chr1:174128025-174128291	ENSG00000227373

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000237886	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000148400	Chromatin interaction
ENSG00000136068	Chromatin interaction
ENSG00000115129	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000265181	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10489255	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10798307	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10798309	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10912728	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10912733	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912737	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912740	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912746	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10912753	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap]
rs10912754	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs10912757	0.88[AFR][1000 genomes]
rs10912762	0.88[AFR][1000 genomes]
rs10912763	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10912765	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10912766	0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs11801105	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11802158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11807537	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12059307	0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs12059434	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12060460	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs12065785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066504	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs12066700	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12067852	0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs12072050	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12074107	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs12074276	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs12075630	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12076453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12076771	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12079214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079687	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079689	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12080977	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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12081445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12082461	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];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083540	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12085311	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12087808	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091012	0.81[AMR][1000 genomes]
rs12091155	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12091157	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12093691	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097252	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12354141	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];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407127	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591944	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16846717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846816	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17300775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350956	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17350991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17353198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1934681	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064150	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2103640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2142863	0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2142864	0.94[ASW][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap]
rs2860907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2860909	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap]
rs2860954	0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs3086	0.90[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233169	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233171	0.80[EUR][1000 genomes]
rs4607949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4650950	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650951	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650958	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650959	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4650969	0.86[EUR][1000 genomes]
rs4650981	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4651008	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs4652179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4652191	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652193	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652204	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652275	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55698100	0.86[EUR][1000 genomes]
rs56152378	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56158362	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239105	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338048	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56375942	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404641	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57407575	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59044210	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425277	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs6656491	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs6668008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670425	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676161	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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678209	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6678286	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];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6684688	0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs6685499	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692437	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6693198	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6694208	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695327	0.89[LWK][hapmap]
rs6697959	0.88[ASW][hapmap];0.80[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap]
rs6700482	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap]
rs714624	0.92[YRI][hapmap]
rs724888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724889	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];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711443	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72711448	0.97[ASN][1000 genomes]
rs72711457	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711487	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711492	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711501	0.85[EUR][1000 genomes]
rs72713503	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72713504	0.86[EUR][1000 genomes]
rs72713505	0.86[EUR][1000 genomes]
rs727912	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7547766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7551605	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7553317	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap]

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	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10912735	C1orf105	cis	cerebellum	SCAN
rs10912735	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs10912735	RC3H1	cis	parietal	SCAN
rs10912735	RP11-160H22.5	cis	Thyroid	GTEx
rs10912735	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs10912735	MRPS14	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174127400-174128200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:174127400-174128200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:174127400-174128200	Flanking Active TSS	Dnd41	blood
4	chr1:174127400-174128200	Flanking Active TSS	Hela-S3	cervix
5	chr1:174127400-174128200	Flanking Active TSS	K562	blood
6	chr1:174127600-174128200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:174127600-174128200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr1:174127600-174128200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr1:174127600-174128200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:174127600-174128200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:174127600-174128200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:174127600-174128200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:174127600-174128200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:174127600-174128200	Flanking Active TSS	Liver	Liver
15	chr1:174127600-174128200	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr1:174127600-174128200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr1:174127600-174128200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:174127600-174128200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:174127600-174128200	Flanking Active TSS	HMEC	breast
20	chr1:174127600-174128200	Flanking Active TSS	HUVEC	blood vessel
21	chr1:174127600-174128200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:174127600-174128200	Flanking Active TSS	NHEK	skin
23	chr1:174127600-174128400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:174127600-174129200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:174127600-174129200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:174127600-174129400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:174127600-174129400	Active TSS	Fetal Stomach	stomach
28	chr1:174127600-174129600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:174127600-174129600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:174127600-174129600	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:174127600-174129800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:174127600-174129800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:174127600-174129800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:174127600-174129800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:174127600-174130000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr1:174127600-174130000	Active TSS	Colonic Mucosa	Colon
37	chr1:174127600-174130000	Active TSS	NHDF-Ad	bronchial
38	chr1:174127600-174130000	Active TSS	NHLF	lung
39	chr1:174127600-174130200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:174127800-174128200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:174127800-174128200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:174127800-174128200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:174127800-174128200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr1:174127800-174128200	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr1:174127800-174128200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:174127800-174128200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:174127800-174128200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:174127800-174128200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:174127800-174128200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr1:174127800-174128200	Flanking Active TSS	Brain Angular Gyrus	brain

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