Variant report

Variant	rs28497345
Chromosome Location	chr12:31226308-31226309
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	JUND	chr12:31226205-31227802	A549	lung:	n/a	chr12:31227387-31227394
2	POLR2A	chr12:31226080-31227526	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:31226018-31228146	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr12:31226305-31227692	K562	blood:	n/a	chr12:31227044-31227051 chr12:31227044-31227051 chr12:31226861-31226871 chr12:31227406-31227418 chr12:31227044-31227051 chr12:31226705-31226716 chr12:31227040-31227052
5	POLR2A	chr12:31226248-31227470	Gliobla	brain:	n/a	n/a
6	SP1	chr12:31226148-31227350	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:31226034-31228075	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYBL2	chr12:31226285-31227630	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:31226228-31227420	MCF-7	breast:	n/a	n/a
10	EBF1	chr12:31226142-31226392	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:31225974-31227431	MCF-7	breast:	n/a	n/a
12	TCF12	chr12:31226285-31227732	A549	lung:	n/a	chr12:31227445-31227453 chr12:31227708-31227715
13	FOSL2	chr12:31226172-31226487	HepG2	liver:	n/a	n/a
14	PBX3	chr12:31226262-31226500	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:31226229-31227722	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr12:31226181-31227773	A549	lung:	n/a	n/a
17	POLR2A	chr12:31226112-31228545	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:31226015-31228372	GM12892	blood:	n/a	n/a
19	POLR2A	chr12:31225828-31228597	GM12892	blood:	n/a	n/a
20	HEY1	chr12:31226067-31226345	HepG2	liver:	n/a	n/a
21	NR2F2	chr12:31226127-31227138	K562	blood:	n/a	n/a
22	TAF1	chr12:31226301-31227789	A549	lung:	n/a	n/a
23	POLR2A	chr12:31226198-31227886	GM12878	blood:	n/a	n/a
24	TAF1	chr12:31225886-31227889	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:31225893-31228092	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr12:31226290-31227910	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr12:31225771-31228691	GM12892	blood:	n/a	n/a
28	TAF1	chr12:31226261-31227387	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:31226268-31227807	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:31225815-31228656	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr12:31226167-31226404	HepG2	liver:	n/a	n/a
32	POU2F2	chr12:31226201-31229430	GM12878	blood:	n/a	chr12:31226782-31226794
33	POLR2A	chr12:31226216-31227556	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr12:31225898-31228213	Hela-S3	cervix:	n/a	n/a
35	POU2F2	chr12:31225925-31228193	GM12891	blood:	n/a	chr12:31226782-31226794
36	TAF1	chr12:31226134-31227813	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:31226140-31227838	H1-hESC	embryonic stem cell:	n/a	n/a
38	HEY1	chr12:31225959-31226345	K562	blood:	n/a	n/a
39	SIX5	chr12:31226295-31227518	A549	lung:	n/a	n/a
40	TAF1	chr12:31226053-31227833	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:31225995-31228182	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr12:31226170-31227512	K562	blood:	n/a	n/a
43	POLR2A	chr12:31226224-31229337	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:31225949-31227554	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr12:31226244-31226420	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:31226204-31227297	MCF-7	breast:	n/a	n/a
47	IRF4	chr12:31226131-31228539	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:31225801-31228200	GM12892	blood:	n/a	n/a
49	PAX5	chr12:31226089-31227866	GM12878	blood:	n/a	chr12:31226907-31226926
50	POLR2A	chr12:31226301-31227652	U87	brain:	n/a	n/a

Variant related genes	Relation type
DDX11	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10743750	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771798	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771800	0.82[EUR][1000 genomes]
rs10843879	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10843880	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10843881	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10843882	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11051227	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11051231	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11051232	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11051235	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051236	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11051241	0.83[EUR][1000 genomes]
rs12425683	0.84[EUR][1000 genomes]
rs1808348	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1808349	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2005897	0.83[EUR][1000 genomes]
rs2005898	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2075318	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2075322	0.82[EUR][1000 genomes]
rs2241287	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2352622	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2543246	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34873612	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3867149	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3881296	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3891006	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3930906	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4031306	0.84[AMR][1000 genomes]
rs4031375	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41313157	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4356315	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4362216	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4537846	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4930950	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4931418	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4931420	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4931421	0.87[AMR][1000 genomes]
rs4931423	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4931424	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4931425	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4931426	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4931427	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4931428	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59526777	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60441127	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61008038	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61119439	0.87[AMR][1000 genomes]
rs6487963	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6487964	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6487965	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6487966	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6487967	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487968	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487969	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487970	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7133363	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7136400	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7297568	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7305663	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7305885	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308368	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7308494	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7308754	0.80[AMR][1000 genomes]
rs7308773	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7309189	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7309520	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313639	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74087920	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7953706	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7971579	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541441	chr12:31080091-31399162	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
8	nsv1038745	chr12:31087757-31305190	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv427906	chr12:31095869-31361902	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv2422323	chr12:31103190-31275170	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv2422496	chr12:31103190-31275170	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2422264	chr12:31103190-31345995	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
16	esv2422254	chr12:31128132-31326508	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv430467	chr12:31148662-31410284	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
19	esv2751044	chr12:31171028-31406907	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	esv2751045	chr12:31171028-31410333	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
22	nsv430469	chr12:31174278-31410284	Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv541442	chr12:31186657-31391898	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv541443	chr12:31186657-31399162	Bivalent/Poised TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv541444	chr12:31191137-31399162	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	esv2751047	chr12:31195272-31410284	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv469195	chr12:31201717-31406907	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv558032	chr12:31201717-31406907	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv515974	chr12:31201717-31452750	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
30	nsv430470	chr12:31201922-31410833	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
31	esv2751048	chr12:31201922-31414473	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv659	chr12:31203746-31249055	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	esv3494304	chr12:31206205-31263015	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
34	esv3494305	chr12:31206205-31263015	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv870239	chr12:31207051-31339312	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
36	esv1832795	chr12:31209204-31261698	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
37	nsv469196	chr12:31210114-31406907	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
38	nsv469197	chr12:31210114-31406907	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
39	nsv469198	chr12:31210114-31406907	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
40	nsv469199	chr12:31210114-31406907	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
41	nsv469200	chr12:31210114-31406907	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
42	nsv558033	chr12:31210114-31406907	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
43	nsv818899	chr12:31210114-31406907	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
44	nsv558034	chr12:31210114-31408511	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
45	nsv558035	chr12:31210114-31410821	Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
46	nsv832363	chr12:31210478-31380034	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
47	nsv430471	chr12:31213735-31414473	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
48	nsv1045497	chr12:31213735-31458547	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
49	nsv558036	chr12:31214179-31406907	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
50	nsv1049249	chr12:31218687-31402690	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs28497345	DDX11	cis	Nerve Tibial	GTEx
rs28497345	DDX11	Cis_1M	lymphoblastoid	RTeQTL
rs28497345	DDX11	cis	lung	GTEx
rs28497345	DDX11	cis	Skin Sun Exposed Lower leg	GTEx
rs28497345	DDX11	cis	Whole Blood	GTEx
rs28497345	DDX11	cis	Muscle Skeletal	GTEx
rs28497345	DDX11	cis	Stomach	GTEx
rs28497345	DDX11	cis	Esophagus Muscularis	GTEx
rs28497345	DDX11	cis	Esophagus Mucosa	GTEx
rs28497345	DDX11	cis	Artery Aorta	GTEx
rs28497345	DDX11	cis	Adipose Subcutaneous	GTEx
rs28497345	DDX11	cis	Thyroid	GTEx
rs28497345	DDX11	cis	Artery Tibial	GTEx
rs28497345	DDX11	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31225200-31228000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:31225200-31228400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:31225200-31228600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr12:31225400-31226400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:31225400-31226400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:31225400-31226400	Enhancers	Lung	lung
7	chr12:31225400-31227200	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:31225400-31227400	Active TSS	Thymus	Thymus
9	chr12:31225400-31227800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr12:31225400-31228000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr12:31225400-31228000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:31225400-31228200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:31225400-31228200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:31225600-31226400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:31225600-31227000	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr12:31225600-31227400	Active TSS	Primary T cells from cord blood	blood
17	chr12:31225600-31228000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:31225600-31228000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:31225600-31228400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:31225600-31229000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:31225800-31226400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:31225800-31226400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:31225800-31226400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:31225800-31226400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr12:31225800-31226600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:31225800-31227400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:31225800-31227400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:31225800-31227600	Active TSS	NHEK	skin
29	chr12:31225800-31227800	Active TSS	Rectal Smooth Muscle	rectum
30	chr12:31225800-31228000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr12:31225800-31228000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:31225800-31228000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:31225800-31228000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:31225800-31228000	Active TSS	Fetal Brain Female	brain
35	chr12:31225800-31228000	Active TSS	Fetal Kidney	kidney
36	chr12:31225800-31228600	Active TSS	A549	lung
37	chr12:31225800-31229200	Active TSS	GM12878-XiMat	blood
38	chr12:31226000-31226400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:31226000-31226400	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:31226000-31226400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:31226000-31226400	Enhancers	Placenta	Placenta
42	chr12:31226000-31226400	Enhancers	Stomach Mucosa	stomach
43	chr12:31226000-31227000	Active TSS	Liver	Liver
44	chr12:31226000-31227000	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:31226000-31227200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr12:31226000-31227200	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr12:31226000-31227200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:31226000-31227200	Active TSS	Brain Anterior Caudate	brain
49	chr12:31226000-31227200	Active TSS	HepG2	liver
50	chr12:31226000-31227200	Active TSS	HUVEC	blood vessel

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