Variant report

Variant	rs4845357
Chromosome Location	chr1:153896212-153896213
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	POLR2A	chr1:153894132-153896457	K562	blood:	n/a	n/a
2	POLR2A	chr1:153894792-153896295	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:153895601-153896607	GM12878	blood:	n/a	n/a
4	WRNIP1	chr1:153895573-153896323	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:153895088-153896391	U87	brain:	n/a	n/a
6	MTA3	chr1:153895442-153896866	GM12878	blood:	n/a	n/a
7	YY1	chr1:153895036-153896341	HepG2	liver:	n/a	chr1:153895250-153895259 chr1:153895250-153895264 chr1:153895256-153895265 chr1:153895251-153895262
8	POLR2A	chr1:153895569-153896427	HepG2	liver:	n/a	n/a
9	ELF1	chr1:153895195-153896434	MCF-7	breast:	n/a	chr1:153895256-153895265 chr1:153895250-153895259
10	GTF2F1	chr1:153895505-153896232	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:153895346-153896262	ECC-1	luminal epithelium:	n/a	n/a
12	SMC3	chr1:153895613-153896338	GM12878	blood:	n/a	n/a
13	SIX5	chr1:153895413-153896534	A549	lung:	n/a	n/a
14	CHD2	chr1:153894963-153896212	HepG2	liver:	n/a	chr1:153895015-153895025
15	RELA	chr1:153895541-153896649	GM19193	blood:	n/a	n/a
16	POLR2A	chr1:153894917-153896471	ProgFib	skin:	n/a	n/a
17	SIN3AK20	chr1:153893963-153896809	MCF-7	breast:	n/a	n/a
18	RELA	chr1:153895472-153896298	GM10847	blood:	n/a	n/a
19	POLR2A	chr1:153894240-153896509	SK-N-MC	brain:	n/a	n/a
20	REST	chr1:153894266-153896514	H1-neurons	neurons:	n/a	n/a
21	TAF1	chr1:153895434-153896391	PFSK-1	brain:	n/a	n/a
22	TAF1	chr1:153895336-153896375	A549	lung:	n/a	n/a
23	POLR2A	chr1:153894202-153896303	GM19193	blood:	n/a	n/a
24	POLR2A	chr1:153894511-153896243	NB4	blood:	n/a	n/a
25	FOXM1	chr1:153895439-153896272	GM12878	blood:	n/a	n/a
26	UBTF	chr1:153895110-153896377	K562	blood:	n/a	n/a
27	POLR2A	chr1:153895376-153896697	PANC-1	pancreas:	n/a	n/a
28	MAX	chr1:153895020-153896265	SK-N-SH	brain:	n/a	chr1:153895650-153895660
29	PML	chr1:153893808-153896909	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:153895340-153896330	U87	brain:	n/a	n/a
31	CHD2	chr1:153894813-153896236	K562	blood:	n/a	chr1:153895015-153895025
32	CHD2	chr1:153894567-153896341	Hela-S3	cervix:	n/a	chr1:153895015-153895025
33	POLR2A	chr1:153895042-153896428	PFSK-1	brain:	n/a	n/a
34	SP1	chr1:153895322-153896342	A549	lung:	n/a	chr1:153895528-153895542 chr1:153895527-153895539 chr1:153895527-153895539 chr1:153895529-153895538 chr1:153895528-153895537 chr1:153895528-153895538
35	SMARCC1	chr1:153895716-153896373	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:153894364-153896371	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:153895066-153896316	HCT-116	colon:	n/a	n/a
38	POLR2A	chr1:153894347-153896636	GM19099	blood:	n/a	n/a
39	HDAC2	chr1:153894458-153896800	MCF-7	breast:	n/a	n/a
40	MAZ	chr1:153894285-153896294	Hela-S3	cervix:	n/a	chr1:153894989-153894999 chr1:153895650-153895660
41	CBX3	chr1:153895005-153896297	K562	blood:	n/a	n/a
42	POLR2A	chr1:153894168-153896310	K562	blood:	n/a	n/a
43	RCOR1	chr1:153895003-153896532	Hela-S3	cervix:	n/a	n/a
44	UBTF	chr1:153895001-153896463	K562	blood:	n/a	n/a
45	POLR2A	chr1:153894682-153896365	HEK293	kidney:	n/a	n/a
46	POLR2A	chr1:153894240-153896287	K562	blood:	n/a	n/a
47	YY1	chr1:153895440-153896339	SK-N-SH_RA	brain:	n/a	n/a
48	TAF1	chr1:153895201-153896232	H1-neurons	neurons:	n/a	n/a
49	MAX	chr1:153894540-153896276	A549	lung:	n/a	chr1:153894989-153894999 chr1:153895650-153895660
50	POLR2A	chr1:153895385-153896616	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153876373..153878542-chr1:153895885..153898675,2	MCF-7	breast:
2	chr1:153877108..153878682-chr1:153895765..153897266,2	MCF-7	breast:
3	chr1:153754212..153755933-chr1:153895678..153897558,2	MCF-7	breast:
4	chr1:153746879..153748867-chr1:153894033..153896594,2	K562	blood:
5	chr1:153895740..153897837-chr1:153943889..153946468,2	K562	blood:
6	chr1:153537683..153540046-chr1:153895076..153896651,2	K562	blood:
7	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:
8	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
9	chr1:153892664..153896587-chr1:153948190..153951187,6	K562	blood:
10	chr1:153747665..153750002-chr1:153895693..153897209,2	MCF-7	breast:
11	chr1:153895897..153896422-chr11:48153597..48154395,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L4-1	chr1:153895762-153896438	NONHSAT006552

Variant related genes	Relation type
GATAD2B	TF binding region
ENSG00000272654	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000143545	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10127983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1043608	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10908558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10908627	0.81[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1110165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264559	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264567	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11264619	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264620	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264734	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11264743	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264763	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264866	0.88[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs11264871	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11264873	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11264875	0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs11264886	0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs11264964	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11264974	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11265040	1.00[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs11265049	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11265076	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11265082	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs11265099	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs11577942	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11581644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11583152	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585416	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11586075	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586593	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11586701	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11586830	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587151	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11589043	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11589857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11591134	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021641	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12022158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12022730	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023699	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12027783	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12028398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038577	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041850	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12048137	0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs12401565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403956	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12406003	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12409811	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12564669	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12567313	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1572788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34612917	1.00[YRI][hapmap]
rs34805562	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748849	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4508047	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4520447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4595397	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4612664	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845576	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4845578	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4845583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845585	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58095661	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59308681	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59678326	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60150125	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61219911	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427329	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6659220	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6666703	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6671132	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6672856	0.87[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs6680140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694061	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6700451	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6701341	0.88[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap]
rs6724	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72694231	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72694234	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7521303	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7524739	0.88[ASN][1000 genomes]
rs7537691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547663	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs7552274	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7552737	0.88[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap]
rs8450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660089	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	esv3441037	chr1:153893853-153896701	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3384628	chr1:153893928-153896576	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4845357	SPRR2D	cis	parietal	SCAN
rs4845357	CRTC2	cis	cerebellum	SCAN
rs4845357	HAX1	cis	parietal	SCAN
rs4845357	SLC27A3	cis	cerebellum	SCAN
rs4845357	GATAD2B	cis	cerebellum	SCAN
rs4845357	LASS2	cis	parietal	SCAN
rs4845357	RAB13	cis	lymphoblastoid	seeQTL
rs4845357	FLG	cis	parietal	SCAN
rs4845357	CTSK	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153893600-153896400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:153893600-153897000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:153893800-153896400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr1:153893800-153896400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:153893800-153896400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:153893800-153896600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:153893800-153896800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:153893800-153896800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:153893800-153896800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:153893800-153896800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:153893800-153897000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:153893800-153897400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:153894000-153896400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:153894000-153896400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:153894000-153896400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr1:153894000-153896400	Active TSS	Fetal Kidney	kidney
17	chr1:153894000-153896400	Active TSS	Ovary	ovary
18	chr1:153894000-153896600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:153894000-153896600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:153894000-153896600	Active TSS	Aorta	Aorta
21	chr1:153894000-153896800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:153894000-153896800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:153894000-153896800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:153894200-153896600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:153894200-153896600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:153894200-153896600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:153894200-153896800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:153894200-153896800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:153894200-153896800	Active TSS	A549	lung
30	chr1:153894400-153896400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:153894400-153896400	Active TSS	Brain Angular Gyrus	brain
32	chr1:153894400-153896400	Active TSS	Esophagus	oesophagus
33	chr1:153894400-153896400	Active TSS	Lung	lung
34	chr1:153894400-153896400	Active TSS	Pancreas	Pancrea
35	chr1:153894400-153896400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr1:153894400-153896600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:153894400-153896600	Active TSS	Fetal Intestine Large	intestine
38	chr1:153894400-153896600	Active TSS	Right Atrium	heart
39	chr1:153894400-153896600	Active TSS	Thymus	Thymus
40	chr1:153894400-153896600	Active TSS	GM12878-XiMat	blood
41	chr1:153894600-153896400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:153894600-153896400	Active TSS	Primary T cells from cord blood	blood
43	chr1:153894600-153896400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:153894600-153896400	Active TSS	Brain Substantia Nigra	brain
45	chr1:153894600-153896400	Active TSS	Placenta Amnion	Placenta Amnion
46	chr1:153894600-153896400	Active TSS	Psoas Muscle	Psoas
47	chr1:153894600-153896400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:153894600-153896600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:153894600-153896600	Active TSS	Right Ventricle	heart
50	chr1:153895200-153896400	Active TSS	Brain Germinal Matrix	brain

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