Variant report

Variant	rs8107388
Chromosome Location	chr19:52407286-52407287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52317917..52321992-chr19:52406046..52408700,3	K562	blood:
2	chr19:52406520..52408589-chr19:52429418..52432281,3	K562	blood:
3	chr19:52407275..52408270-chr8:74790610..74791354,2	NB4	blood:
4	chr19:52388375..52390016-chr19:52406809..52409493,2	K562	blood:
5	chr19:52399759..52403972-chr19:52406809..52409528,3	K562	blood:
6	chr19:52406727..52408388-chr19:52428844..52430674,2	K562	blood:

Variant related genes	Relation type
ENSG00000187474	Chromatin interaction
ENSG00000104343	Chromatin interaction
ENSG00000176024	Chromatin interaction
ENSG00000161551	Chromatin interaction
ENSG00000198093	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10401778	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs10402107	0.81[EUR][1000 genomes]
rs10402630	0.81[EUR][1000 genomes]
rs10403189	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10404812	0.83[EUR][1000 genomes]
rs10414472	0.83[EUR][1000 genomes]
rs10420224	0.83[EUR][1000 genomes]
rs10423835	0.80[EUR][1000 genomes]
rs10423838	0.81[EUR][1000 genomes]
rs11084125	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs11667971	0.98[ASN][1000 genomes]
rs11669762	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11878580	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs11878583	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11878586	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11879319	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11879336	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs11879436	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs12460688	0.83[ASN][1000 genomes]
rs12462746	0.82[ASN][1000 genomes]
rs1433081	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs16983196	0.81[EUR][1000 genomes]
rs16983200	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17778661	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs17778711	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs17778790	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs17835306	0.88[ASN][1000 genomes]
rs17835311	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2867321	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2867322	0.80[ASN][1000 genomes]
rs4584941	0.83[CEU][hapmap]
rs55931982	0.82[ASN][1000 genomes]
rs57171871	0.89[ASN][1000 genomes]
rs58425167	0.83[ASN][1000 genomes]
rs59305384	0.81[EUR][1000 genomes]
rs59911578	0.88[ASN][1000 genomes]
rs60981935	0.89[ASN][1000 genomes]
rs6509591	1.00[CEU][hapmap];0.80[JPT][hapmap];0.84[EUR][1000 genomes]
rs6509592	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6509596	0.85[ASN][1000 genomes]
rs7247017	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7250138	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs7250193	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7251571	1.00[CEU][hapmap]
rs7251689	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs7251755	0.81[EUR][1000 genomes]
rs7251929	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7252303	0.81[EUR][1000 genomes]
rs7252336	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs7256926	0.83[EUR][1000 genomes]
rs7258377	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs8101509	0.90[JPT][hapmap]
rs8102738	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs8110546	1.00[CEU][hapmap]
rs8110960	0.83[ASN][1000 genomes]
rs892039	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9973239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:53 , 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	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	nsv1065600	chr19:52295063-52500079	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers 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	25 gene(s)	inside rSNPs	diseases
38	nsv544056	chr19:52295063-52500079	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription 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	25 gene(s)	inside rSNPs	diseases
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8107388	ZNF577	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52357800-52407400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:52358200-52407400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr19:52390800-52407400	ZNF genes & repeats	GM12878-XiMat	blood
4	chr19:52401200-52407400	ZNF genes & repeats	Fetal Thymus	thymus
5	chr19:52405600-52408400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:52405800-52407800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:52406200-52407400	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr19:52406200-52407400	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr19:52406200-52407800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr19:52406200-52408400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:52406200-52408400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:52406200-52408400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:52406400-52407400	Enhancers	Spleen	Spleen
14	chr19:52406400-52407800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr19:52406400-52408600	Active TSS	Brain Substantia Nigra	brain
16	chr19:52406400-52408600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr19:52406400-52408800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:52406400-52411000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:52406600-52407400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:52406600-52408400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr19:52406600-52408400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:52406600-52408400	Active TSS	Fetal Kidney	kidney
23	chr19:52406600-52408600	Active TSS	Primary hematopoietic stem cells	blood
24	chr19:52406600-52408600	Active TSS	Fetal Brain Female	brain
25	chr19:52406800-52407400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:52406800-52407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:52406800-52407800	Active TSS	Brain Germinal Matrix	brain
28	chr19:52406800-52408400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr19:52406800-52408400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:52406800-52408400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:52406800-52408400	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:52406800-52408400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:52406800-52408400	Active TSS	Colonic Mucosa	Colon
34	chr19:52406800-52408600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:52406800-52408600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:52406800-52408600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:52406800-52408600	Active TSS	Brain Cingulate Gyrus	brain
38	chr19:52407000-52407400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:52407000-52407400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr19:52407000-52407400	Enhancers	Primary B cells from peripheral blood	blood
41	chr19:52407000-52407400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr19:52407000-52407400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:52407000-52407400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:52407000-52407400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:52407000-52407400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:52407000-52407400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr19:52407000-52407400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:52407000-52407400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr19:52407000-52407400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr19:52407000-52407400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links