Variant report

Variant	rs6547630
Chromosome Location	chr2:85903252-85903253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85901871..85904801-chr2:85904981..85906586,2	MCF-7	breast:
2	chr2:85895416..85898828-chr2:85901766..85904071,3	K562	blood:
3	chr2:85896506..85899590-chr2:85901147..85903484,4	K562	blood:

Variant related genes	Relation type
ENSG00000168878	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55982993	0.95[AFR][1000 genomes]
rs59153844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59875598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59944166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60054012	1.00[AMR][1000 genomes]
rs6733404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6740143	0.95[AFR][1000 genomes]
rs72925004	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925023	0.90[AFR][1000 genomes]
rs72925076	1.00[AMR][1000 genomes]
rs72925101	1.00[AMR][1000 genomes]
rs7563758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7598517	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874465	chr2:85898898-85939207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv2812	chr2:85899944-85929267	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85887000-85905800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:85891000-85905800	Weak transcription	Right Atrium	heart
3	chr2:85894000-85905000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:85897200-85905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:85900400-85905600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:85900600-85906200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:85901200-85903400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:85901200-85906000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:85901400-85905600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:85901400-85906000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:85901600-85905600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:85901800-85905800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:85901800-85908800	Weak transcription	HSMMtube	muscle
14	chr2:85902000-85905200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:85902200-85905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:85902200-85906000	Weak transcription	Placenta	Placenta
17	chr2:85902200-85906000	Weak transcription	NHDF-Ad	bronchial
18	chr2:85902400-85903400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:85902400-85905800	Weak transcription	Spleen	Spleen
20	chr2:85902600-85905600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:85902800-85903800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:85902800-85905600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:85902800-85905600	Weak transcription	Lung	lung
24	chr2:85902800-85905600	Weak transcription	Psoas Muscle	Psoas
25	chr2:85902800-85906200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:85902800-85906200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:85903000-85903400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:85903200-85904400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links