Variant report

Variant	rs12459762
Chromosome Location	chr19:52512280-52512281
allele	C/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	REST	chr19:52510459-52512288	H1-neurons	neurons:	n/a	chr19:52510908-52510921
2	SETDB1	chr19:52511705-52512641	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52510030..52514111-chr19:52530123..52532651,4	MCF-7	breast:
2	chr19:52510413..52512811-chr19:52548370..52551361,2	MCF-7	breast:
3	chr19:52510456..52516006-chr19:52524444..52533479,8	K562	blood:

Variant related genes	Relation type
ZNF615	TF binding region
ENSG00000142556	Chromatin interaction
ENSG00000256087	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10164294	0.85[AMR][1000 genomes]
rs10164297	0.85[AMR][1000 genomes]
rs11084131	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11084132	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11084137	0.86[ASN][1000 genomes]
rs11084141	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11084142	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11665783	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11667001	0.89[ASN][1000 genomes]
rs11668885	0.90[AMR][1000 genomes]
rs11669540	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11671702	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11671792	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11673286	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673398	0.89[ASN][1000 genomes]
rs11673450	0.89[ASN][1000 genomes]
rs12460118	0.89[ASN][1000 genomes]
rs12460587	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12460617	0.89[ASN][1000 genomes]
rs12460658	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12462359	0.89[ASN][1000 genomes]
rs12462876	0.92[ASN][1000 genomes]
rs12609219	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12611112	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1433089	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17779301	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17779439	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17835716	0.89[ASN][1000 genomes]
rs17835749	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2043298	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28379522	0.89[ASN][1000 genomes]
rs3450	0.89[ASN][1000 genomes]
rs35135782	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3752119	0.89[ASN][1000 genomes]
rs3752120	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56808319	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58112450	0.87[ASN][1000 genomes]
rs58243732	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58329304	0.89[ASN][1000 genomes]
rs58715071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58817690	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59104696	0.89[ASN][1000 genomes]
rs59667666	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60193983	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60500787	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60720536	0.89[AMR][1000 genomes]
rs61574510	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6509619	0.89[ASN][1000 genomes]
rs71335629	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7253849	0.86[ASN][1000 genomes]
rs7258261	0.89[ASN][1000 genomes]
rs7258471	0.89[ASN][1000 genomes]
rs9636142	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9636143	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
2	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
3	esv34938	chr19:52227916-52630935	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1061029	chr19:52249900-52614747	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	esv2757699	chr19:52259571-52604625	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	esv2751797	chr19:52259588-52604625	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv1061100	chr19:52259839-52617390	Strong transcription Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1060519	chr19:52270087-52628611	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv579998	chr19:52270942-52613105	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv1056146	chr19:52271018-52617390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv1057485	chr19:52271309-52614747	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv870043	chr19:52271348-52619860	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv534202	chr19:52272356-52627403	Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv1059263	chr19:52273257-52607771	ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv1057290	chr19:52273257-52614747	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv1064732	chr19:52273257-52617390	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
17	nsv1059924	chr19:52273257-52628611	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv1057217	chr19:52283498-52617132	Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	nsv1062154	chr19:52283498-52617390	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
20	nsv1060988	chr19:52283498-52621644	Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv1058292	chr19:52284671-52614747	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
22	nsv1063940	chr19:52284671-52617390	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	esv2751798	chr19:52285788-52604625	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	esv2751799	chr19:52285788-52604625	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
25	esv2751800	chr19:52285788-52604625	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
26	esv2751801	chr19:52285788-52604625	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
27	esv34502	chr19:52285829-52604625	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
28	nsv458734	chr19:52287452-52601399	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
29	nsv579999	chr19:52287452-52601399	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
30	nsv458735	chr19:52287452-52607765	Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
31	nsv458736	chr19:52287452-52607765	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
32	nsv580000	chr19:52287452-52607765	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
33	nsv1055523	chr19:52288763-52578312	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
34	nsv544055	chr19:52288763-52578312	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
35	nsv916346	chr19:52288798-52578302	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
36	nsv1059596	chr19:52295063-52553755	ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
37	nsv544057	chr19:52295063-52553755	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
38	nsv1064316	chr19:52295063-52593062	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
39	nsv544058	chr19:52295063-52593062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
40	nsv580001	chr19:52301660-52517238	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
41	nsv580002	chr19:52304146-52617298	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
42	nsv458737	chr19:52306547-52601399	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
43	nsv580003	chr19:52306547-52601399	Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
44	nsv458738	chr19:52306547-52621644	Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
45	nsv580004	chr19:52306547-52621644	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
46	nsv531306	chr19:52327602-52616696	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
47	esv2758505	chr19:52346092-52533826	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
48	nsv534124	chr19:52368797-52616696	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
49	nsv833872	chr19:52431787-52619024	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
50	nsv458741	chr19:52449643-52519608	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12459762	ZNF614	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52510400-52512400	Active TSS	Brain Angular Gyrus	brain
2	chr19:52510400-52512600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:52510400-52512600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:52510600-52512400	ZNF genes & repeats	Thymus	Thymus
5	chr19:52510600-52512800	ZNF genes & repeats	Fetal Thymus	thymus
6	chr19:52510800-52512400	Active TSS	Brain Hippocampus Middle	brain
7	chr19:52510800-52512800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:52511000-52512400	Active TSS	Primary T cells from cord blood	blood
9	chr19:52511000-52512400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr19:52511000-52512400	Active TSS	Stomach Smooth Muscle	stomach
11	chr19:52511000-52512600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:52511000-52512600	Active TSS	Duodenum Mucosa	Duodenum
13	chr19:52511000-52512600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr19:52511200-52512600	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr19:52511200-52512600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr19:52511600-52513000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:52511800-52512400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:52511800-52512400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr19:52511800-52512400	ZNF genes & repeats	A549	lung
20	chr19:52511800-52512400	ZNF genes & repeats	GM12878-XiMat	blood
21	chr19:52511800-52512600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr19:52511800-52512600	ZNF genes & repeats	NH-A	brain
23	chr19:52511800-52513200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:52512000-52512400	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:52512000-52512800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:52512000-52513000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:52512000-52514200	Weak transcription	Gastric	stomach
28	chr19:52512000-52515200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:52512000-52518200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:52512000-52518400	Weak transcription	Fetal Heart	heart
31	chr19:52512000-52518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:52512000-52519000	Weak transcription	NHDF-Ad	bronchial
33	chr19:52512000-52525400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:52512200-52512400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:52512200-52512400	Enhancers	Primary B cells from peripheral blood	blood
36	chr19:52512200-52512400	Enhancers	Primary hematopoietic stem cells	blood
37	chr19:52512200-52512400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:52512200-52512400	Enhancers	Fetal Brain Female	brain
39	chr19:52512200-52512400	Enhancers	Placenta	Placenta
40	chr19:52512200-52512400	Weak transcription	Dnd41	blood
41	chr19:52512200-52512400	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr19:52512200-52512600	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr19:52512200-52512600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:52512200-52512800	Active TSS	Adipose Nuclei	Adipose
45	chr19:52512200-52512800	Active TSS	Liver	Liver
46	chr19:52512200-52513800	Weak transcription	HepG2	liver
47	chr19:52512200-52514200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:52512200-52514200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:52512200-52514200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:52512200-52514200	Weak transcription	Small Intestine	intestine

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