Variant report

Variant	rs62086591
Chromosome Location	chr18:8789298-8789299
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr18:8789003-8789373	T-47D	breast:	n/a	n/a
2	POLR2A	chr18:8789247-8789299	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8704290..8706760-chr18:8788684..8791153,2	MCF-7	breast:

Variant related genes	Relation type
SOGA2	TF binding region
ENSG00000168502	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56848389	1.00[EUR][1000 genomes]
rs62086587	1.00[EUR][1000 genomes]
rs62086597	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948672	chr18:8699323-8794278	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr18:8760200-8792600	Weak transcription	Hela-S3	cervix
2	chr18:8763200-8791000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:8776800-8791200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:8778200-8793200	Weak transcription	Stomach Mucosa	stomach
5	chr18:8778400-8793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:8779600-8793600	Weak transcription	Fetal Heart	heart
7	chr18:8781600-8793200	Strong transcription	NHLF	lung
8	chr18:8781600-8793800	Strong transcription	NHDF-Ad	bronchial
9	chr18:8781800-8789400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:8781800-8789600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:8781800-8789800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:8782400-8789400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:8782400-8791400	Weak transcription	HepG2	liver
14	chr18:8783000-8799600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr18:8783600-8789400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:8783600-8793200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr18:8784400-8790600	Strong transcription	Osteobl	bone
18	chr18:8784800-8790800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:8785200-8790200	Strong transcription	NH-A	brain
20	chr18:8785400-8789800	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr18:8785600-8789400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:8785600-8790400	Weak transcription	Lung	lung
23	chr18:8785600-8800000	Weak transcription	Esophagus	oesophagus
24	chr18:8786200-8789600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:8786400-8789600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr18:8786600-8789600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr18:8786600-8800000	Weak transcription	Ovary	ovary
28	chr18:8786800-8791000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:8786800-8797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:8787000-8789400	Enhancers	Brain Anterior Caudate	brain
31	chr18:8787000-8791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:8787000-8822200	Weak transcription	Primary B cells from cord blood	blood
33	chr18:8787200-8789400	Enhancers	Brain Substantia Nigra	brain
34	chr18:8787200-8793000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr18:8787200-8797000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr18:8787400-8790400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:8787400-8791200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr18:8787400-8791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr18:8787400-8792200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr18:8787400-8796600	Weak transcription	Brain Angular Gyrus	brain
41	chr18:8787600-8789600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:8787600-8790600	Strong transcription	NHEK	skin
43	chr18:8787600-8790800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:8787600-8791000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr18:8787600-8791000	Weak transcription	Fetal Intestine Large	intestine
46	chr18:8787600-8791000	Weak transcription	Placenta	Placenta
47	chr18:8787600-8791000	Weak transcription	HMEC	breast
48	chr18:8787600-8792600	Weak transcription	Brain Germinal Matrix	brain
49	chr18:8787600-8792600	Weak transcription	Fetal Intestine Small	intestine
50	chr18:8787600-8792600	Weak transcription	Gastric	stomach

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