Variant report

Variant	rs10505447
Chromosome Location	chr8:125675074-125675075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125675068..125677488-chr8:125678936..125680854,2	K562	blood:
2	chr8:125674410..125676549-chr8:125679730..125683032,4	MCF-7	breast:
3	chr8:125673813..125676349-chr8:125984209..125986396,2	MCF-7	breast:
4	chr8:125673889..125676093-chr8:125685869..125687968,2	MCF-7	breast:
5	chr8:125672360..125675088-chr8:125677995..125680421,2	K562	blood:
6	chr8:125673153..125675208-chr8:125677038..125679927,4	MCF-7	breast:
7	chr8:125671389..125674362-chr8:125674838..125677120,3	K562	blood:
8	chr8:125667599..125669759-chr8:125673833..125675582,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10216358	1.00[JPT][hapmap]
rs16899921	1.00[JPT][hapmap]
rs16899925	1.00[JPT][hapmap]
rs16899928	1.00[JPT][hapmap]
rs16899930	1.00[JPT][hapmap]
rs16899933	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16899942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17374540	1.00[JPT][hapmap]
rs58439099	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6989891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7813190	1.00[JPT][hapmap]
rs7835359	1.00[JPT][hapmap]

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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
2	chr8:125671800-125677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:125672400-125677000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:125672600-125679600	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:125672800-125676200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:125672800-125676800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:125672800-125679600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:125673000-125676800	Enhancers	Primary B cells from cord blood	blood
9	chr8:125673000-125676800	Weak transcription	Osteobl	bone
10	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:125673200-125675200	Weak transcription	Gastric	stomach
12	chr8:125673200-125675400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:125673200-125675400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125673200-125675400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:125673200-125675400	Weak transcription	Fetal Stomach	stomach
16	chr8:125673200-125676600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125673200-125676600	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:125673200-125677000	Weak transcription	Pancreas	Pancrea
19	chr8:125673200-125677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:125673200-125678400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:125673200-125678600	Weak transcription	Placenta	Placenta
22	chr8:125673400-125675200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:125673400-125675200	Weak transcription	Adipose Nuclei	Adipose
24	chr8:125673400-125675200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:125673400-125675200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:125673400-125675200	Weak transcription	Stomach Mucosa	stomach
27	chr8:125673400-125675200	Weak transcription	NHEK	skin
28	chr8:125673400-125675600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:125673400-125675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:125673400-125676200	Weak transcription	HSMMtube	muscle
31	chr8:125673400-125676400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:125673400-125676600	Weak transcription	NHDF-Ad	bronchial
33	chr8:125673400-125677000	Weak transcription	Fetal Lung	lung
34	chr8:125673400-125678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:125673400-125678400	Weak transcription	Small Intestine	intestine
36	chr8:125673400-125680200	Weak transcription	HMEC	breast
37	chr8:125673800-125675400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:125673800-125677400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:125674000-125675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:125674000-125675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:125674000-125675200	Weak transcription	Esophagus	oesophagus
42	chr8:125674000-125675200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:125674000-125675200	Weak transcription	Psoas Muscle	Psoas
44	chr8:125674000-125675200	Weak transcription	Right Atrium	heart
45	chr8:125674000-125675200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:125674000-125675400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:125674000-125675400	Weak transcription	Brain Substantia Nigra	brain
48	chr8:125674000-125675600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:125674000-125675800	Weak transcription	Brain Anterior Caudate	brain
50	chr8:125674000-125678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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