Variant report

Variant	rs17395092
Chromosome Location	chr8:125737477-125737478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
2	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
3	chr8:125647571..125649356-chr8:125735665..125737482,2	MCF-7	breast:
4	chr8:125605731..125607581-chr8:125735892..125738512,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7831551	1.00[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	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
2	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
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125724600-125738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:125730000-125737600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:125730200-125737600	Enhancers	Fetal Heart	heart
4	chr8:125731000-125738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:125731400-125738200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:125731400-125738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:125733000-125738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:125733200-125738400	Weak transcription	K562	blood
9	chr8:125733800-125738000	Flanking Active TSS	Liver	Liver
10	chr8:125734000-125738000	Enhancers	Brain Anterior Caudate	brain
11	chr8:125734200-125738000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:125734200-125738200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:125734200-125738400	Weak transcription	Esophagus	oesophagus
14	chr8:125734600-125738000	Weak transcription	Placenta	Placenta
15	chr8:125734800-125738200	Enhancers	Brain Hippocampus Middle	brain
16	chr8:125735000-125738400	Weak transcription	Stomach Mucosa	stomach
17	chr8:125735200-125737600	Weak transcription	Fetal Lung	lung
18	chr8:125735600-125737800	Enhancers	Right Atrium	heart
19	chr8:125735800-125738200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:125736000-125737600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:125736000-125737600	Enhancers	Pancreas	Pancrea
22	chr8:125736000-125737800	Enhancers	Right Ventricle	heart
23	chr8:125736000-125738400	Enhancers	Fetal Intestine Small	intestine
24	chr8:125736200-125737600	Enhancers	Fetal Kidney	kidney
25	chr8:125736200-125738200	Weak transcription	NHLF	lung
26	chr8:125736400-125737600	Bivalent Enhancer	Fetal Thymus	thymus
27	chr8:125736400-125737600	Enhancers	NHEK	skin
28	chr8:125736400-125738200	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:125736400-125738200	Enhancers	Fetal Intestine Large	intestine
30	chr8:125736800-125737600	Flanking Active TSS	Fetal Brain Female	brain
31	chr8:125736800-125738000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:125736800-125738200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:125736800-125738800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:125737000-125737600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:125737000-125737600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:125737000-125737600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr8:125737000-125737600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:125737000-125737600	Flanking Active TSS	HMEC	breast
39	chr8:125737000-125737800	Flanking Active TSS	Fetal Brain Male	brain
40	chr8:125737000-125738200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:125737000-125738200	Weak transcription	HSMM	muscle
42	chr8:125737000-125738800	Active TSS	Brain Germinal Matrix	brain
43	chr8:125737000-125739000	Flanking Active TSS	HUVEC	blood vessel
44	chr8:125737200-125737600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr8:125737200-125737600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr8:125737200-125737800	Enhancers	NHDF-Ad	bronchial
47	chr8:125737200-125738000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:125737200-125738000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:125737200-125738200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:125737200-125738200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links