Variant report

Variant	rs8109713
Chromosome Location	chr19:38884833-38884834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr19:38884663-38884957	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr19:38884380-38885405	HEK293-T-REx	kidney:	n/a	n/a
4	POLR2A	chr19:38883299-38886167	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38864094..38865598-chr19:38884345..38886575,2	K562	blood:
2	chr19:38881527..38884112-chr19:38884478..38886116,2	K562	blood:
3	chr19:38724585..38727174-chr19:38883492..38886224,2	K562	blood:
4	chr19:38877412..38880246-chr19:38884643..38887201,2	K562	blood:
5	chr19:38864523..38867483-chr19:38883200..38885064,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267473	TF binding region
ENSG00000099341	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10993	1.00[CEU][hapmap]
rs11083454	0.82[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11538289	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880301	1.00[CEU][hapmap]
rs2302228	1.00[EUR][1000 genomes]
rs3745955	0.80[EUR][1000 genomes]
rs3745963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3760884	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57753437	0.93[EUR][1000 genomes]
rs59491640	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780508	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508791	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6508792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248540	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248780	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257976	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	0.81[EUR][1000 genomes]
rs73043030	0.93[EUR][1000 genomes]
rs73043033	0.93[EUR][1000 genomes]
rs73043098	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73044905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044923	0.80[EUR][1000 genomes]
rs73044926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044930	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8108440	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112499	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv911661	chr19:38872335-38894829	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv911662	chr19:38872634-38895809	Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1803709	chr19:38874828-38900078	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38880000-38885200	Weak transcription	Pancreas	Pancrea
2	chr19:38880000-38886400	Weak transcription	Gastric	stomach
3	chr19:38880200-38885000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:38880200-38885000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:38880200-38885000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:38880200-38885200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:38880200-38885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:38880200-38887600	Weak transcription	Right Atrium	heart
9	chr19:38880400-38885000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:38880400-38885000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:38880800-38889200	Weak transcription	Brain Angular Gyrus	brain
12	chr19:38881000-38885000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr19:38881000-38885200	Weak transcription	NHEK	skin
14	chr19:38881000-38887000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:38881000-38887600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:38881000-38893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:38881000-38893200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:38881000-38893200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:38881000-38893200	Weak transcription	HSMMtube	muscle
20	chr19:38881200-38887200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:38881600-38886200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:38882200-38885000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:38882400-38885200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:38882600-38888000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:38882800-38887400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:38883000-38885400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:38883000-38885400	Enhancers	Fetal Intestine Small	intestine
28	chr19:38883000-38888000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:38883200-38885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:38883200-38887800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:38883600-38885400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:38883600-38885600	Enhancers	Duodenum Mucosa	Duodenum
33	chr19:38883600-38891600	Weak transcription	HUVEC	blood vessel
34	chr19:38883600-38893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:38883800-38885000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:38883800-38885200	Weak transcription	NHDF-Ad	bronchial
37	chr19:38883800-38885400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:38883800-38886800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:38883800-38887200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:38883800-38887600	Strong transcription	NHLF	lung
41	chr19:38883800-38887800	Strong transcription	Osteobl	bone
42	chr19:38883800-38888400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:38884000-38885000	Weak transcription	Aorta	Aorta
44	chr19:38884000-38885400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:38884000-38885800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:38884000-38886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:38884000-38891600	Weak transcription	A549	lung
48	chr19:38884400-38885000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr19:38884400-38885000	Strong transcription	Brain Anterior Caudate	brain
50	chr19:38884400-38885000	Bivalent Enhancer	HepG2	liver

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