Variant report

Variant	rs755175
Chromosome Location	chr8:120587966-120587967
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120587930..120589480-chr8:120589573..120592559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136960	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10097147	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10097368	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097501	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10098410	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10110878	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10112316	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11991811	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs13277188	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1374099	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1374100	0.89[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1374101	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289888	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289889	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305125	0.82[JPT][hapmap]
rs2875905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4520196	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871401	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6986760	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987103	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987232	0.89[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7007302	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7017581	0.92[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs7822457	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7823511	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9297599	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs935360	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
8	chr8:120571400-120592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:120572600-120591600	Weak transcription	Psoas Muscle	Psoas
11	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:120576000-120593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:120578000-120589000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:120578600-120589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:120581800-120589600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:120585000-120595000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:120585400-120588000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:120586200-120588000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:120586400-120588200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:120586600-120588000	Enhancers	HSMMtube	muscle
24	chr8:120586800-120591000	Weak transcription	HMEC	breast
25	chr8:120586800-120591400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:120587000-120591800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:120587000-120594200	Weak transcription	Ovary	ovary
28	chr8:120587000-120594600	Weak transcription	Placenta	Placenta
29	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:120587200-120588200	Enhancers	Osteobl	bone
31	chr8:120587200-120589200	Weak transcription	Adipose Nuclei	Adipose
32	chr8:120587200-120591000	Weak transcription	HSMM	muscle
33	chr8:120587600-120588000	Weak transcription	Fetal Lung	lung
34	chr8:120587600-120588200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:120587600-120588400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:120587600-120589600	Weak transcription	Liver	Liver
37	chr8:120587600-120590600	Weak transcription	NHLF	lung
38	chr8:120587600-120590800	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:120587600-120591000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:120587600-120591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:120587600-120591200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:120587600-120595600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:120587800-120588200	Weak transcription	Brain Substantia Nigra	brain
44	chr8:120587800-120589600	Strong transcription	NHDF-Ad	bronchial
45	chr8:120587800-120590600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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