Variant report

Variant	rs11994063
Chromosome Location	chr8:6501378-6501379
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	GTF2F1	chr8:6501307-6501488	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000271927	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2042670	1.00[CHB][hapmap]
rs2433150	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515563	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7838511	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
12	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv610005	chr8:6490665-6535690	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1024024	chr8:6490665-6555558	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2761219	chr8:6494655-6505115	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv890059	chr8:6498174-6554615	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv524670	chr8:6500544-6539987	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6474200-6505200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:6476400-6502800	Weak transcription	Colonic Mucosa	Colon
3	chr8:6480000-6502000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:6480200-6501800	Weak transcription	NHEK	skin
5	chr8:6480200-6502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:6480200-6502600	Weak transcription	Gastric	stomach
7	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
8	chr8:6480400-6502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:6480400-6505400	Weak transcription	Lung	lung
10	chr8:6481800-6501800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:6482000-6501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:6482000-6503600	Weak transcription	Esophagus	oesophagus
13	chr8:6483800-6504400	Weak transcription	Liver	Liver
14	chr8:6484000-6502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:6484000-6502200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:6484400-6502400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:6484400-6503000	Weak transcription	Spleen	Spleen
18	chr8:6484400-6503400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:6484800-6505200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:6485000-6502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:6485000-6504400	Weak transcription	Fetal Intestine Large	intestine
22	chr8:6485200-6502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:6485400-6501400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:6485400-6503800	Weak transcription	Fetal Stomach	stomach
25	chr8:6487400-6502000	Weak transcription	Primary B cells from cord blood	blood
26	chr8:6487400-6502000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:6487800-6502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:6488800-6502000	Weak transcription	GM12878-XiMat	blood
29	chr8:6495000-6502200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:6496600-6502600	Weak transcription	Pancreas	Pancrea
31	chr8:6496600-6503800	Weak transcription	Ovary	ovary
32	chr8:6498200-6501400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:6498200-6502000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:6498200-6502000	Enhancers	NHDF-Ad	bronchial
35	chr8:6498400-6503200	Enhancers	HSMM	muscle
36	chr8:6498600-6502000	Weak transcription	Hela-S3	cervix
37	chr8:6498600-6502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:6498600-6504600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:6498800-6502000	Strong transcription	Dnd41	blood
40	chr8:6499000-6502200	Strong transcription	Fetal Thymus	thymus
41	chr8:6499600-6502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:6499600-6503200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:6499800-6502800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:6499800-6503800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:6500000-6501400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:6500000-6501400	Weak transcription	Right Ventricle	heart
47	chr8:6500000-6502000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:6500000-6502000	Weak transcription	Psoas Muscle	Psoas
49	chr8:6500000-6502200	Weak transcription	Adipose Nuclei	Adipose
50	chr8:6500000-6502200	Weak transcription	Placenta	Placenta

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