Variant report

Variant	rs1292647
Chromosome Location	chr4:8228894-8228895
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	POLR2A	chr4:8228774-8232291	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SH3TC1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1281147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572219	1.00[EUR][1000 genomes]
rs28620285	1.00[EUR][1000 genomes]
rs4696813	1.00[EUR][1000 genomes]
rs55750784	1.00[EUR][1000 genomes]
rs57584841	1.00[EUR][1000 genomes]
rs58912103	1.00[EUR][1000 genomes]
rs60246256	1.00[EUR][1000 genomes]
rs60263323	1.00[EUR][1000 genomes]
rs60368234	1.00[EUR][1000 genomes]
rs60793748	1.00[EUR][1000 genomes]
rs61335356	1.00[EUR][1000 genomes]
rs6823593	1.00[EUR][1000 genomes]
rs73083700	1.00[EUR][1000 genomes]
rs73796888	1.00[EUR][1000 genomes]
rs73801722	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription 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	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription 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	13 gene(s)	inside rSNPs	diseases
4	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS 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	20 gene(s)	inside rSNPs	diseases
5	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	20 gene(s)	inside rSNPs	diseases
7	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong 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	18 gene(s)	inside rSNPs	diseases
11	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS 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	15 gene(s)	inside rSNPs	diseases
14	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
20	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8212200-8230200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:8213200-8229600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:8213400-8229600	Strong transcription	HUVEC	blood vessel
4	chr4:8215000-8229000	Strong transcription	HMEC	breast
5	chr4:8216600-8229800	Strong transcription	NHEK	skin
6	chr4:8216600-8230200	Weak transcription	Ovary	ovary
7	chr4:8217200-8229600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:8217400-8229200	Strong transcription	Liver	Liver
9	chr4:8217400-8229400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:8217400-8229400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:8217400-8230000	Weak transcription	Left Ventricle	heart
12	chr4:8217400-8230200	Weak transcription	Hela-S3	cervix
13	chr4:8221400-8231400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:8222800-8229800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:8223000-8229800	Weak transcription	Brain Anterior Caudate	brain
16	chr4:8223800-8229400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:8224000-8229200	Strong transcription	Lung	lung
18	chr4:8224000-8229400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr4:8224000-8229400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:8224000-8230000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:8224200-8229200	Strong transcription	Primary B cells from cord blood	blood
22	chr4:8224400-8229200	Strong transcription	GM12878-XiMat	blood
23	chr4:8224600-8229200	Strong transcription	Esophagus	oesophagus
24	chr4:8224600-8229400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:8225000-8235200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:8225600-8230600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr4:8225800-8229600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:8226000-8230600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr4:8226000-8231000	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:8226000-8231000	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:8226200-8229800	Enhancers	Primary T cells from cord blood	blood
32	chr4:8226200-8230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:8226200-8230000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:8226400-8229200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:8226400-8229400	Weak transcription	NHLF	lung
36	chr4:8226400-8230000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:8226400-8232000	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:8226800-8229800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:8226800-8229800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:8226800-8230800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:8226800-8231800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:8227000-8229400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:8227000-8229400	Strong transcription	Spleen	Spleen
44	chr4:8227000-8229600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:8227000-8230000	Enhancers	Dnd41	blood
46	chr4:8227000-8230400	Genic enhancers	Gastric	stomach
47	chr4:8227000-8231000	Genic enhancers	Pancreas	Pancrea
48	chr4:8227200-8229800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:8227200-8230000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr4:8227200-8231600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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