Variant report

Variant	rs2928631
Chromosome Location	chr8:6590872-6590873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6582565..6584469-chr8:6589315..6591124,2	K562	blood:
2	chr8:6579053..6581015-chr8:6588545..6590944,2	MCF-7	breast:
3	chr8:6590798..6593095-chr8:6599894..6603696,3	K562	blood:
4	chr8:6585357..6588723-chr8:6589806..6592858,3	K562	blood:
5	chr8:6563956..6568156-chr8:6584449..6592281,7	MCF-7	breast:
6	chr8:6589795..6592287-chr8:6621682..6624107,2	K562	blood:

Variant related genes	Relation type
ENSG00000155189	Chromatin interaction
ENSG00000266038	Chromatin interaction
ENSG00000249898	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10096753	0.89[ASN][1000 genomes]
rs10110103	0.85[ASN][1000 genomes]
rs1365042	0.88[EUR][1000 genomes]
rs1365043	0.89[EUR][1000 genomes]
rs1559748	0.89[EUR][1000 genomes]
rs1961768	0.89[ASN][1000 genomes]
rs1971312	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2911975	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2911976	0.89[EUR][1000 genomes]
rs2911977	0.89[EUR][1000 genomes]
rs2911978	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2911979	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2911980	0.80[EUR][1000 genomes]
rs2911983	0.86[EUR][1000 genomes]
rs2912054	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2928576	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2928618	0.88[EUR][1000 genomes]
rs2928619	0.88[EUR][1000 genomes]
rs2928621	0.87[EUR][1000 genomes]
rs2928623	0.89[EUR][1000 genomes]
rs2928625	0.80[EUR][1000 genomes]
rs2928626	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2928629	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2928630	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2936502	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2936505	0.81[ASN][1000 genomes]
rs2936512	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2980658	0.81[AMR][1000 genomes]
rs2980679	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980680	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2980682	0.86[EUR][1000 genomes]
rs2980683	0.89[EUR][1000 genomes]
rs2980684	0.89[EUR][1000 genomes]
rs2980686	0.81[EUR][1000 genomes]
rs2980689	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2980690	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2980692	0.89[EUR][1000 genomes]
rs6559178	0.93[ASN][1000 genomes]
rs992813	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	13 gene(s)	inside rSNPs	diseases
14	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1031063	chr8:6570354-6622685	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
17	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv1024685	chr8:6575334-6622685	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv1034812	chr8:6578390-6920312	Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
20	nsv949532	chr8:6579563-6999220	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
21	nsv482865	chr8:6585920-6765111	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6567400-6592600	Weak transcription	Aorta	Aorta
2	chr8:6568000-6603400	Weak transcription	Fetal Brain Male	brain
3	chr8:6576000-6591200	Weak transcription	Fetal Stomach	stomach
4	chr8:6577800-6592000	Weak transcription	Placenta	Placenta
5	chr8:6582600-6594600	Strong transcription	Hela-S3	cervix
6	chr8:6584800-6592200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:6585600-6591000	Weak transcription	Stomach Mucosa	stomach
8	chr8:6585800-6591800	Weak transcription	Fetal Intestine Small	intestine
9	chr8:6585800-6591800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:6585800-6592400	Weak transcription	Colonic Mucosa	Colon
11	chr8:6585800-6592600	Weak transcription	Esophagus	oesophagus
12	chr8:6585800-6615800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:6586600-6592200	Weak transcription	Ovary	ovary
14	chr8:6587200-6604600	Weak transcription	NHEK	skin
15	chr8:6587200-6617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:6587600-6592400	Weak transcription	Small Intestine	intestine
17	chr8:6587600-6599400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:6587600-6608000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:6587800-6591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:6587800-6592600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:6587800-6592600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:6587800-6596200	Strong transcription	Dnd41	blood
23	chr8:6587800-6605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:6587800-6607400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:6587800-6612000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:6587800-6617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:6588000-6596200	Strong transcription	Fetal Thymus	thymus
28	chr8:6588200-6592200	Strong transcription	HepG2	liver
29	chr8:6588200-6596000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:6588400-6592400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:6588400-6592600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:6588400-6592800	Weak transcription	Lung	lung
33	chr8:6588400-6597400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:6588600-6591000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:6588600-6592200	Weak transcription	Fetal Intestine Large	intestine
36	chr8:6588600-6607400	Weak transcription	Spleen	Spleen
37	chr8:6588800-6592600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:6589000-6592400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:6589000-6598200	Weak transcription	Liver	Liver
40	chr8:6589200-6591000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:6589200-6591200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:6589200-6591200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:6589200-6591400	Enhancers	Brain Substantia Nigra	brain
44	chr8:6589200-6591600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:6589400-6591200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:6589400-6591200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:6589400-6591600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:6589400-6594000	Genic enhancers	K562	blood
49	chr8:6589600-6591200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:6589800-6596200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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