Variant report

Variant	rs426950
Chromosome Location	chr19:40562386-40562387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:40561725-40562552	GM12878	blood:	n/a	chr19:40562117-40562130
2	POLR2A	chr19:40561694-40562489	GM12878	blood:	n/a	n/a
3	GABPA	chr19:40561324-40562800	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:40561702-40562473	GM19193	blood:	n/a	n/a
5	POU2F2	chr19:40561864-40562503	GM12878	blood:	n/a	chr19:40562389-40562401 chr19:40562387-40562401 chr19:40562390-40562400 chr19:40562383-40562405 chr19:40562387-40562402 chr19:40562390-40562399 chr19:40562388-40562401 chr19:40562380-40562388 chr19:40562391-40562398 chr19:40562380-40562390 chr19:40562390-40562400
6	POLR2A	chr19:40561673-40562492	GM12892	blood:	n/a	n/a
7	MAX	chr19:40561626-40562435	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr19:40561630-40562470	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr19:40561662-40562403	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:40561643-40562497	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:40561805-40562410	HepG2	liver:	n/a	n/a
12	TBP	chr19:40561986-40562532	Hela-S3	cervix:	n/a	chr19:40562326-40562337
13	POLR2A	chr19:40561772-40562480	GM18526	blood:	n/a	n/a
14	POLR2A	chr19:40561483-40562570	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:40561812-40562477	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr19:40561769-40562419	U87	brain:	n/a	n/a
17	MAX	chr19:40561681-40562515	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF384	chr19:40562174-40562749	GM12878	blood:	n/a	n/a
19	TAF1	chr19:40561619-40562532	A549	lung:	n/a	n/a
20	TAF1	chr19:40561958-40562431	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr19:40561572-40562445	GM12891	blood:	n/a	n/a
22	HCFC1	chr19:40561333-40562962	Hela-S3	cervix:	n/a	n/a
23	SIX5	chr19:40561657-40562390	A549	lung:	n/a	n/a
24	TBP	chr19:40561876-40562396	H1-hESC	embryonic stem cell:	n/a	chr19:40562326-40562337
25	SIN3A	chr19:40561721-40562420	GM12878	blood:	n/a	chr19:40562008-40562019
26	TEAD4	chr19:40561865-40562538	HepG2	liver:	n/a	n/a
27	GABPA	chr19:40561568-40562538	MCF-7	breast:	n/a	n/a
28	FOSL2	chr19:40561603-40562502	A549	lung:	n/a	n/a
29	ZEB1	chr19:40562066-40562398	GM12878	blood:	n/a	n/a
30	RUNX3	chr19:40561645-40562794	GM12878	blood:	n/a	n/a
31	GABPA	chr19:40561391-40562497	HL-60	blood:	n/a	n/a
32	SIN3AK20	chr19:40560370-40562572	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr19:40561320-40562534	GM12878	blood:	n/a	n/a
34	ELF1	chr19:40561681-40562388	GM12878	blood:	n/a	n/a
35	SPI1	chr19:40561816-40562833	HL-60	blood:	n/a	chr19:40562620-40562633 chr19:40562624-40562631 chr19:40562621-40562634 chr19:40562623-40562632 chr19:40562117-40562130
36	POLR2A	chr19:40561810-40562388	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr19:40561749-40562416	Raji	blood:	n/a	n/a
38	POLR2A	chr19:40561682-40562410	ECC-1	luminal epithelium:	n/a	n/a
39	TBP	chr19:40561735-40562512	GM12878	blood:	n/a	chr19:40562326-40562337
40	SP1	chr19:40561669-40562531	A549	lung:	n/a	n/a
41	GABPA	chr19:40561458-40562546	HL-60	blood:	n/a	n/a
42	TCF12	chr19:40561286-40562635	A549	lung:	n/a	n/a
43	E2F6	chr19:40561564-40562403	A549	lung:	n/a	n/a
44	ETS1	chr19:40561587-40562525	A549	lung:	n/a	chr19:40562121-40562138 chr19:40562122-40562133 chr19:40562121-40562132 chr19:40562121-40562130
45	SIX5	chr19:40561947-40562397	GM12878	blood:	n/a	n/a
46	STAT5A	chr19:40561489-40562498	GM12878	blood:	n/a	chr19:40562156-40562179
47	POLR2A	chr19:40561705-40562467	GM15510	blood:	n/a	n/a
48	CREB1	chr19:40561615-40562530	GM12878	blood:	n/a	n/a
49	GABPA	chr19:40561511-40562548	SK-N-SH	brain:	n/a	n/a
50	ELF1	chr19:40561822-40562496	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40562337-40562387	HCM	heart:	n/a
2	chr19:40562354-40562404	Jurkat	blood:	n/a
3	chr19:40562354-40562404	T-47D	breast:	n/a
4	chr19:40562337-40562387	NB4	blood:	n/a
5	chr19:40562337-40562387	Caco-2	colon:	n/a
6	chr19:40562337-40562387	HUVEC	blood vessel:	n/a
7	chr19:40562337-40562387	HRCEpiC	kidney:	n/a
8	chr19:40562354-40562404	A549	lung:	n/a
9	chr19:40562354-40562404	HCF	heart:	n/a
10	chr19:40562337-40562387	HEEpiC	esophagus:	n/a
11	chr19:40562354-40562404	Caco-2	colon:	n/a
12	chr19:40562337-40562387	AG09309	skin:	n/a
13	chr19:40562354-40562404	PFSK-1	brain:	n/a
14	chr19:40562337-40562387	HepG2	liver:	n/a
15	chr19:40562337-40562387	BE2_C	brain:	n/a
16	chr19:40562354-40562404	HCM	heart:	n/a
17	chr19:40562337-40562387	SK-N-MC	brain:	n/a
18	chr19:40562337-40562387	PFSK-1	brain:	n/a
19	chr19:40562337-40562387	AoSMC	blood vessel:	n/a
20	chr19:40562354-40562404	GM06990	blood:	n/a
21	chr19:40562354-40562404	AG04450	lung:	fetal
22	chr19:40562354-40562404	AG09319	gingival:	n/a
23	chr19:40562337-40562387	HRPEpiC	eye:	n/a
24	chr19:40562354-40562404	HCPEpiC	choroid plexus:	n/a
25	chr19:40562337-40562387	AG09319	gingival:	n/a
26	chr19:40562354-40562404	HRCEpiC	kidney:	n/a
27	chr19:40562337-40562387	ProgFib	skin:	n/a
28	chr19:40562337-40562387	SKMC	muscle:	n/a
29	chr19:40562354-40562404	SKMC	muscle:	n/a
30	chr19:40562354-40562404	IMR90	lung:	fetal
31	chr19:40562354-40562404	NH-A	brain:	n/a
32	chr19:40562354-40562404	SK-N-SH	brain:	n/a
33	chr19:40562337-40562387	U87	brain:	n/a
34	chr19:40562337-40562387	AG10803	skin:	n/a
35	chr19:40562354-40562404	HCT-116	colon:	n/a
36	chr19:40562337-40562387	PrEC	prostate:	n/a
37	chr19:40562354-40562404	LNCaP	prostate:	n/a
38	chr19:40562337-40562387	GM19239	blood:	n/a
39	chr19:40562337-40562387	RPTEC	kidney:	n/a
40	chr19:40562354-40562404	CMK	blood:	n/a
41	chr19:40562337-40562387	HCPEpiC	choroid plexus:	n/a
42	chr19:40562354-40562404	ovcar-3	ovarian:	n/a
43	chr19:40562354-40562404	NT2-D1	testis:	n/a
44	chr19:40562337-40562387	NT2-D1	testis:	n/a
45	chr19:40562354-40562404	U87	brain:	n/a
46	chr19:40562337-40562387	IMR90	lung:	fetal
47	chr19:40562354-40562404	HL-60	blood:	n/a
48	chr19:40562354-40562404	SK-N-MC	brain:	n/a
49	chr19:40562337-40562387	K562	blood:	n/a
50	chr19:40562354-40562404	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40552393..40554137-chr19:40562191..40564319,2	K562	blood:

Variant related genes	Relation type
ZNF780B	TF binding region
ZNF780B	CpG island

Extended variants
information (count: 174 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs1007628	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10406738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10417013	0.86[ASN][1000 genomes]
rs10417043	0.86[ASN][1000 genomes]
rs10418196	0.85[ASN][1000 genomes]
rs11542840	0.85[ASN][1000 genomes]
rs1327185	0.85[JPT][hapmap]
rs1327193	0.82[JPT][hapmap]
rs13344062	0.95[ASN][1000 genomes]
rs163213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs170900	0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs170901	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs173061	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17796769	0.85[ASN][1000 genomes]
rs17796901	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17797100	0.85[JPT][hapmap]
rs183504	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs186801	0.86[ASN][1000 genomes]
rs186815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1926931	0.89[ASN][1000 genomes]
rs1926932	0.89[ASN][1000 genomes]
rs1926933	0.89[ASN][1000 genomes]
rs1926934	0.89[ASN][1000 genomes]
rs2111543	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2111544	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2231737	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2231738	0.81[GIH][hapmap]
rs234301	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs234302	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs234303	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs234304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234306	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234308	0.83[ASN][1000 genomes]
rs234309	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs234310	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234313	0.86[ASN][1000 genomes]
rs234315	0.86[ASN][1000 genomes]
rs234317	0.86[ASN][1000 genomes]
rs234318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234323	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs234324	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs234325	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs234326	0.86[ASN][1000 genomes]
rs234328	0.86[ASN][1000 genomes]
rs234341	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs234343	0.90[ASN][1000 genomes]
rs234352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs234353	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs234355	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs234356	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs234357	0.89[ASN][1000 genomes]
rs234360	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234370	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234371	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234374	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs24135	0.85[JPT][hapmap]
rs24136	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs24137	0.85[JPT][hapmap]
rs2542303	0.86[ASN][1000 genomes]
rs2569640	0.85[JPT][hapmap]
rs2569641	0.85[JPT][hapmap]
rs2569650	0.87[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2569651	0.81[ASN][1000 genomes]
rs2767604	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs2767607	0.85[JPT][hapmap]
rs2819956	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs28366011	0.86[ASN][1000 genomes]
rs2915972	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs2986595	0.89[ASN][1000 genomes]
rs3000956	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337780	0.85[ASN][1000 genomes]
rs337782	0.85[ASN][1000 genomes]
rs337784	0.85[JPT][hapmap]
rs337785	1.00[JPT][hapmap]
rs337786	0.85[JPT][hapmap]
rs337787	0.84[JPT][hapmap]
rs337789	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs337792	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs337793	0.85[JPT][hapmap]
rs337794	1.00[JPT][hapmap]
rs337798	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337799	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs337800	0.96[ASN][1000 genomes]
rs337801	0.93[ASN][1000 genomes]
rs34466648	0.83[CHB][hapmap]
rs365055	0.86[ASN][1000 genomes]
rs371500	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs372599	0.85[ASN][1000 genomes]
rs3760919	0.85[GIH][hapmap]
rs3760920	0.83[CHB][hapmap]
rs387202	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3887029	0.91[CHB][hapmap]
rs392958	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3930885	0.86[ASN][1000 genomes]
rs404754	0.86[ASN][1000 genomes]
rs416283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423545	0.84[ASN][1000 genomes]
rs424353	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4577216	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs459091	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[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]
rs55798334	0.84[ASN][1000 genomes]
rs57219798	0.85[ASN][1000 genomes]
rs57880771	0.89[ASN][1000 genomes]
rs57900299	0.90[ASN][1000 genomes]
rs58210425	0.94[ASN][1000 genomes]
rs58284735	0.94[ASN][1000 genomes]
rs58395013	0.91[ASN][1000 genomes]
rs58440570	0.89[ASN][1000 genomes]
rs58941665	0.94[ASN][1000 genomes]
rs59502139	0.91[ASN][1000 genomes]
rs59925663	0.85[ASN][1000 genomes]
rs60080503	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60449727	0.90[ASN][1000 genomes]
rs60887294	0.86[ASN][1000 genomes]
rs61236589	0.86[ASN][1000 genomes]
rs61385499	0.89[ASN][1000 genomes]
rs615215	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7247527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7257747	0.90[ASN][1000 genomes]
rs7258202	0.90[ASN][1000 genomes]
rs7258506	0.91[ASN][1000 genomes]
rs7258627	0.91[ASN][1000 genomes]
rs7258778	0.90[ASN][1000 genomes]
rs7258974	0.89[ASN][1000 genomes]
rs7259855	0.89[ASN][1000 genomes]
rs7260378	0.89[ASN][1000 genomes]
rs73543974	0.85[ASN][1000 genomes]
rs73543979	0.85[ASN][1000 genomes]
rs73545909	0.86[ASN][1000 genomes]
rs73545911	0.86[ASN][1000 genomes]
rs73545934	0.86[ASN][1000 genomes]
rs73545936	0.86[ASN][1000 genomes]
rs73545938	0.86[ASN][1000 genomes]
rs73545945	0.86[ASN][1000 genomes]
rs73545950	0.86[ASN][1000 genomes]
rs73545955	0.86[ASN][1000 genomes]
rs73545975	0.86[ASN][1000 genomes]
rs73546001	0.86[ASN][1000 genomes]
rs73546002	0.86[ASN][1000 genomes]
rs73547618	0.86[ASN][1000 genomes]
rs73547620	0.86[ASN][1000 genomes]
rs73547638	0.86[ASN][1000 genomes]
rs73547652	0.89[ASN][1000 genomes]
rs73547656	0.89[ASN][1000 genomes]
rs73547663	0.89[ASN][1000 genomes]
rs73547676	0.89[ASN][1000 genomes]
rs73547677	0.89[ASN][1000 genomes]
rs73547696	0.94[ASN][1000 genomes]
rs73547702	0.94[ASN][1000 genomes]
rs73549804	0.91[ASN][1000 genomes]
rs73549810	0.91[ASN][1000 genomes]
rs73549811	0.91[ASN][1000 genomes]
rs73549820	0.91[ASN][1000 genomes]
rs73549821	0.85[ASN][1000 genomes]
rs73549825	0.89[ASN][1000 genomes]
rs73549826	0.89[ASN][1000 genomes]
rs73549829	0.89[ASN][1000 genomes]
rs73549833	0.89[ASN][1000 genomes]
rs73549835	0.89[ASN][1000 genomes]
rs73549836	0.89[ASN][1000 genomes]
rs8105066	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8106032	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8106269	0.88[GIH][hapmap]
rs8108793	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109718	0.88[GIH][hapmap]
rs9783938	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9917073	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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 target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs426950	ZNF780A	cis	lung	GTEx
rs426950	ZNF780A	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40560400-40562600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:40560400-40562600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:40560400-40563000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:40560400-40563000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr19:40560400-40563000	Active TSS	Stomach Smooth Muscle	stomach
6	chr19:40560400-40563200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:40560600-40562600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:40560600-40562600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:40560600-40562800	Active TSS	Muscle Satellite Cultured Cells	--
10	chr19:40560600-40563000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:40560600-40563000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:40560600-40563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:40560600-40563000	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:40560600-40563000	Active TSS	NHLF	lung
15	chr19:40560600-40563600	Active TSS	Right Atrium	heart
16	chr19:40560800-40562600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr19:40560800-40562600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:40560800-40562600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:40560800-40562800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr19:40560800-40562800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:40560800-40562800	Active TSS	Fetal Kidney	kidney
22	chr19:40560800-40563000	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:40561000-40562600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:40561000-40562600	Active TSS	Brain Cingulate Gyrus	brain
25	chr19:40561000-40562600	Active TSS	Left Ventricle	heart
26	chr19:40561000-40562800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr19:40561000-40562800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:40561000-40562800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:40561000-40562800	Active TSS	Fetal Intestine Small	intestine
30	chr19:40561000-40562800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr19:40561000-40562800	Active TSS	Right Ventricle	heart
32	chr19:40561000-40562800	Active TSS	A549	lung
33	chr19:40561000-40562800	Active TSS	GM12878-XiMat	blood
34	chr19:40561000-40562800	Active TSS	HSMMtube	muscle
35	chr19:40561000-40562800	Active TSS	K562	blood
36	chr19:40561000-40562800	Active TSS	NHDF-Ad	bronchial
37	chr19:40561000-40563000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:40561000-40563200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:40561200-40562400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr19:40561200-40562600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:40561200-40562600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:40561200-40562600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:40561200-40562600	Active TSS	Brain Substantia Nigra	brain
44	chr19:40561200-40562600	Active TSS	Ovary	ovary
45	chr19:40561200-40562600	Active TSS	Osteobl	bone
46	chr19:40561200-40562800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:40561200-40562800	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr19:40561200-40562800	Active TSS	Fetal Intestine Large	intestine
49	chr19:40561200-40562800	Active TSS	Fetal Muscle Trunk	muscle
50	chr19:40561200-40562800	Active TSS	HSMM	muscle

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