Variant report

Variant	rs2046664
Chromosome Location	chr8:95387941-95387942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95385882..95388764-chr8:95485034..95487567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10095298	0.86[CHB][hapmap]
rs10102233	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10216902	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10504936	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10956914	0.86[CHB][hapmap]
rs12545262	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12681366	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs12682038	0.89[CHB][hapmap]
rs13280849	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13281619	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1372048	0.86[CHB][hapmap]
rs1561648	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs1598713	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs16916788	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16916802	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs1872889	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs2046663	0.84[YRI][hapmap]
rs2197003	0.86[CHB][hapmap]
rs2291439	0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs2381793	0.86[CHB][hapmap]
rs2381828	0.84[YRI][hapmap]
rs2919662	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2930958	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap]
rs2930961	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap]
rs2930962	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2930964	0.86[CHB][hapmap]
rs2930968	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2931632	0.86[CHB][hapmap]
rs3019146	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3019149	0.86[CHB][hapmap]
rs3019154	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3019278	0.86[CHB][hapmap]
rs3019279	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3019280	0.86[CHB][hapmap]
rs3019281	0.86[CHB][hapmap]
rs4735288	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs4735292	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6980687	0.91[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv1031480	chr8:95375696-95447407	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 lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95372800-95391200	Weak transcription	HepG2	liver
4	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
5	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
11	chr8:95377600-95390800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:95377800-95391000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:95377800-95412000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:95378000-95391400	Weak transcription	Thymus	Thymus
15	chr8:95378200-95391400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:95378200-95403200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:95378400-95391000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:95378400-95391200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:95378800-95390400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:95379200-95391400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:95379200-95403600	Weak transcription	Brain Anterior Caudate	brain
23	chr8:95379400-95407000	Weak transcription	Fetal Stomach	stomach
24	chr8:95379400-95413200	Weak transcription	Fetal Brain Male	brain
25	chr8:95379600-95390800	Weak transcription	Fetal Brain Female	brain
26	chr8:95380200-95389200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:95380200-95391400	Weak transcription	Brain Germinal Matrix	brain
28	chr8:95380200-95409400	Weak transcription	HSMMtube	muscle
29	chr8:95380800-95389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:95380800-95392000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:95381000-95390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:95381000-95393000	Weak transcription	Primary B cells from cord blood	blood
33	chr8:95381400-95391400	Weak transcription	Ovary	ovary
34	chr8:95382400-95390800	Weak transcription	Liver	Liver
35	chr8:95382400-95391000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:95382400-95414800	Weak transcription	Gastric	stomach
37	chr8:95382600-95389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:95382800-95390400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:95382800-95391400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:95383000-95392000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:95383200-95403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:95383800-95390800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:95384000-95388000	Weak transcription	GM12878-XiMat	blood
44	chr8:95384200-95390400	Weak transcription	K562	blood
45	chr8:95384200-95390600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:95385600-95389200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:95385800-95389200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:95385800-95389200	Weak transcription	A549	lung
50	chr8:95385800-95390400	Weak transcription	H9 Cell Line	embryonic stem cell

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