Variant report

Variant	rs6785496
Chromosome Location	chr3:196325312-196325313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196321462..196324854-chr3:196325294..196330001,5	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10881569	0.82[ASN][1000 genomes]
rs9876053	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196324000-196326600	Weak transcription	K562	blood
2	chr3:196324800-196325400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:196324800-196325400	Active TSS	Primary T cells from cord blood	blood
4	chr3:196324800-196325400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr3:196324800-196325400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr3:196324800-196325400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:196324800-196325400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:196324800-196325400	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr3:196324800-196325400	Active TSS	Fetal Stomach	stomach
10	chr3:196324800-196325600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:196324800-196325600	Active TSS	Rectal Smooth Muscle	rectum
12	chr3:196325000-196325400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr3:196325000-196325400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr3:196325000-196325400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr3:196325000-196325400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:196325000-196325400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:196325000-196325400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:196325000-196325400	Active TSS	Colonic Mucosa	Colon
19	chr3:196325000-196325400	Active TSS	Fetal Intestine Small	intestine
20	chr3:196325000-196325400	Flanking Active TSS	Fetal Thymus	thymus
21	chr3:196325000-196325400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr3:196325000-196325400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr3:196325000-196325400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr3:196325000-196325400	Active TSS	Thymus	Thymus
25	chr3:196325000-196325400	Active TSS	HSMM	muscle
26	chr3:196325000-196325400	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr3:196325000-196325600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:196325000-196325600	Active TSS	Primary B cells from cord blood	blood
29	chr3:196325000-196325600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr3:196325000-196325600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:196325000-196325600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:196325000-196325600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:196325000-196325600	Active TSS	Stomach Smooth Muscle	stomach
34	chr3:196325200-196325400	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
35	chr3:196325200-196325400	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:196325200-196325400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr3:196325200-196325400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr3:196325200-196325400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:196325200-196325400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr3:196325200-196325400	Active TSS	Duodenum Mucosa	Duodenum
41	chr3:196325200-196325400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:196325200-196325400	Flanking Bivalent TSS/Enh	Placenta	Placenta
43	chr3:196325200-196325400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr3:196325200-196325600	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr3:196325200-196325600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr3:196325200-196325600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:196325200-196325600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr3:196325200-196325600	Active TSS	Dnd41	blood

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