Variant report

Variant	rs2170363
Chromosome Location	chr8:95272605-95272606
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95252636..95255137-chr8:95271154..95272846,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10956909	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11998093	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12675257	1.00[CHB][hapmap]
rs12678484	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16916666	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs17734840	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17735424	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17797394	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2607069	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs2623166	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs2623168	0.86[CEU][hapmap];0.85[CHB][hapmap]
rs3179604	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs930868	0.86[CEU][hapmap];0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
2	chr8:95259600-95274000	Weak transcription	Primary T cells from cord blood	blood
3	chr8:95263000-95273800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:95263000-95273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:95264800-95273600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:95267200-95272800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
7	chr8:95267200-95273200	Transcr. at gene 5' and 3'	Aorta	Aorta
8	chr8:95267800-95274000	Weak transcription	Gastric	stomach
9	chr8:95268000-95273000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:95268200-95273000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
11	chr8:95269600-95273200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:95269600-95273200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:95269600-95273600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:95269800-95273400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
15	chr8:95269800-95274000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
16	chr8:95270200-95272800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:95270200-95273800	Enhancers	HSMM	muscle
18	chr8:95270200-95274800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:95270200-95275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:95270400-95273600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:95270600-95273200	Transcr. at gene 5' and 3'	NHLF	lung
22	chr8:95270600-95273600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:95270600-95273800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:95270600-95274800	Active TSS	Brain Anterior Caudate	brain
25	chr8:95271000-95273000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:95271000-95273400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:95271000-95273600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:95271000-95274800	Active TSS	Brain Cingulate Gyrus	brain
29	chr8:95271200-95272800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
30	chr8:95271200-95272800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
31	chr8:95271200-95273200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:95271200-95273400	Enhancers	Pancreas	Pancrea
33	chr8:95271200-95274800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr8:95271200-95274800	Active TSS	Brain Substantia Nigra	brain
35	chr8:95271400-95273000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
36	chr8:95271400-95273400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:95271600-95273000	Active TSS	Brain Hippocampus Middle	brain
38	chr8:95271600-95273600	Weak transcription	Fetal Kidney	kidney
39	chr8:95271600-95273800	Flanking Active TSS	HMEC	breast
40	chr8:95271600-95273800	Flanking Active TSS	Osteobl	bone
41	chr8:95271600-95274800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:95271800-95273000	Active TSS	Duodenum Mucosa	Duodenum
43	chr8:95271800-95273200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:95271800-95273200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
45	chr8:95271800-95273400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
46	chr8:95271800-95273800	Enhancers	NHEK	skin
47	chr8:95271800-95275000	Active TSS	Colonic Mucosa	Colon
48	chr8:95272000-95272800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
49	chr8:95272000-95273000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:95272000-95273000	Flanking Active TSS	Right Atrium	heart

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