Variant report

Variant	rs2912062
Chromosome Location	chr8:6485295-6485296
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1834451	0.83[ASN][1000 genomes]
rs1974946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2042670	1.00[CHB][hapmap]
rs2246801	0.87[CEU][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2253560	0.81[CEU][hapmap]
rs2278147	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2454517	0.81[CEU][hapmap]
rs2515561	0.83[ASN][1000 genomes]
rs2515563	0.81[JPT][hapmap]
rs2912063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2980655	0.83[ASN][1000 genomes]
rs3020263	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020266	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6458000-6498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:6472400-6486200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:6474200-6486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:6474200-6505200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:6474600-6488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:6474800-6498400	Weak transcription	HSMM	muscle
7	chr8:6476400-6499000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:6476400-6502800	Weak transcription	Colonic Mucosa	Colon
9	chr8:6477600-6485400	Strong transcription	Dnd41	blood
10	chr8:6478000-6487400	Weak transcription	Small Intestine	intestine
11	chr8:6478200-6494600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:6478400-6498400	Weak transcription	HMEC	breast
13	chr8:6479600-6499800	Weak transcription	Aorta	Aorta
14	chr8:6480000-6486200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:6480000-6502000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:6480200-6486800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:6480200-6489400	Weak transcription	Brain Substantia Nigra	brain
18	chr8:6480200-6501800	Weak transcription	NHEK	skin
19	chr8:6480200-6502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:6480200-6502600	Weak transcription	Gastric	stomach
21	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
22	chr8:6480400-6491400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:6480400-6498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:6480400-6499600	Weak transcription	Brain Anterior Caudate	brain
25	chr8:6480400-6499800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:6480400-6499800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:6480400-6499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:6480400-6502200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:6480400-6505400	Weak transcription	Lung	lung
30	chr8:6480800-6499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:6481800-6485400	Strong transcription	Fetal Stomach	stomach
32	chr8:6481800-6501800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:6482000-6486200	Weak transcription	Primary B cells from cord blood	blood
34	chr8:6482000-6486600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:6482000-6501800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:6482000-6503600	Weak transcription	Esophagus	oesophagus
37	chr8:6482200-6486800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:6482200-6501200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:6482400-6486000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:6483000-6487000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:6483200-6486400	Enhancers	NHDF-Ad	bronchial
42	chr8:6483200-6496200	Weak transcription	Pancreas	Pancrea
43	chr8:6483600-6485400	Enhancers	Left Ventricle	heart
44	chr8:6483600-6485800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:6483800-6487200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:6483800-6504400	Weak transcription	Liver	Liver
47	chr8:6484000-6485800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:6484000-6486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:6484000-6500200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:6484000-6502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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