Variant report

Variant	rs804257
Chromosome Location	chr8:11634913-11634914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11629548..11632235-chr8:11633790..11635730,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1017803	1.00[AMR][1000 genomes]
rs11782559	1.00[CHB][hapmap]
rs1296352	1.00[AMR][1000 genomes]
rs1692802	1.00[AMR][1000 genomes]
rs1874545	1.00[AMR][1000 genomes]
rs1965988	1.00[AMR][1000 genomes]
rs2088347	1.00[AMR][1000 genomes]
rs2201680	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2252071	1.00[AMR][1000 genomes]
rs2409834	0.83[ASN][1000 genomes]
rs2409836	1.00[CHB][hapmap]
rs2645436	1.00[AMR][1000 genomes]
rs2645439	1.00[AMR][1000 genomes]
rs2645451	1.00[AMR][1000 genomes]
rs2740442	1.00[AMR][1000 genomes]
rs4841600	1.00[CHB][hapmap]
rs6984049	0.83[ASN][1000 genomes]
rs6994126	0.83[ASN][1000 genomes]
rs7008523	0.83[ASN][1000 genomes]
rs7009163	0.83[ASN][1000 genomes]
rs73547796	0.83[ASN][1000 genomes]
rs804255	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804259	1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs804291	1.00[AMR][1000 genomes]
rs804294	1.00[AMR][1000 genomes]
rs8191535	0.83[ASN][1000 genomes]
rs8191555	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs8191577	0.83[ASN][1000 genomes]
rs8191666	0.83[ASN][1000 genomes]
rs922480	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628000-11640800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:11628400-11635800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:11628400-11637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:11628400-11640000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:11628400-11640600	Weak transcription	A549	lung
6	chr8:11628400-11640600	Weak transcription	NH-A	brain
7	chr8:11628400-11641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:11628400-11641200	Weak transcription	Psoas Muscle	Psoas
9	chr8:11628400-11641400	Weak transcription	Esophagus	oesophagus
10	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
13	chr8:11628600-11635400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:11628600-11636800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:11628600-11637200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:11628600-11638000	Weak transcription	NHEK	skin
17	chr8:11628600-11638400	Weak transcription	NHLF	lung
18	chr8:11628600-11638800	Weak transcription	HMEC	breast
19	chr8:11628600-11640600	Weak transcription	Osteobl	bone
20	chr8:11628600-11640800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:11628600-11641800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
23	chr8:11628800-11635200	Weak transcription	K562	blood
24	chr8:11628800-11638200	Weak transcription	NHDF-Ad	bronchial
25	chr8:11628800-11639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:11628800-11640200	Weak transcription	Pancreas	Pancrea
27	chr8:11628800-11640400	Weak transcription	HSMMtube	muscle
28	chr8:11628800-11640600	Weak transcription	Placenta	Placenta
29	chr8:11628800-11640600	Weak transcription	HepG2	liver
30	chr8:11628800-11640800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:11628800-11640800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:11628800-11641000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:11628800-11641200	Weak transcription	HSMM	muscle
34	chr8:11628800-11641600	Weak transcription	Colonic Mucosa	Colon
35	chr8:11628800-11646800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:11629000-11635200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:11629000-11638000	Weak transcription	Brain Germinal Matrix	brain
38	chr8:11629000-11640200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:11629000-11640400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:11629000-11640800	Weak transcription	Gastric	stomach
41	chr8:11629000-11640800	Weak transcription	Right Ventricle	heart
42	chr8:11629000-11641000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:11629000-11641600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:11629200-11635200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:11629200-11636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:11629200-11637200	Weak transcription	Lung	lung
47	chr8:11629200-11640200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:11629200-11640800	Weak transcription	Fetal Intestine Large	intestine
49	chr8:11629200-11644200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:11629400-11635000	Weak transcription	Brain Inferior Temporal Lobe	brain

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