Variant report

Variant	rs2189836
Chromosome Location	chr7:39655900-39655901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39632294..39634662-chr7:39653376..39655988,2	K562	blood:
2	chr7:39646300..39651329-chr7:39653429..39657040,6	K562	blood:
3	chr7:39604772..39606325-chr7:39653918..39656424,2	K562	blood:
4	chr7:39655737..39658310-chr7:39659914..39661763,2	MCF-7	breast:
5	chr7:39651686..39654390-chr7:39655088..39657553,2	K562	blood:

Variant related genes	Relation type
ENSG00000241127	Chromatin interaction
ENSG00000106540	Chromatin interaction
ENSG00000231951	Chromatin interaction
ENSG00000227172	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11973049	0.97[AFR][1000 genomes]
rs11981806	0.88[AFR][1000 genomes]
rs11984119	1.00[YRI][hapmap]
rs11984153	0.91[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39645200-39661600	Weak transcription	A549	lung
2	chr7:39648800-39656000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39651800-39657000	Enhancers	HUVEC	blood vessel
4	chr7:39652400-39656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:39652400-39656800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:39654200-39656400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:39654800-39656600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:39654800-39657200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:39655000-39656600	Enhancers	NH-A	brain
10	chr7:39655000-39656600	Enhancers	NHLF	lung
11	chr7:39655000-39657000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:39655000-39657000	Enhancers	Hela-S3	cervix
13	chr7:39655000-39657000	Enhancers	NHDF-Ad	bronchial
14	chr7:39655000-39657000	Enhancers	Osteobl	bone
15	chr7:39655200-39656000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:39655200-39657000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:39655200-39661800	Weak transcription	Pancreas	Pancrea
18	chr7:39655400-39656600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:39655400-39656600	Enhancers	HSMM	muscle
20	chr7:39655400-39656600	Enhancers	NHEK	skin
21	chr7:39655400-39657000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:39655400-39657000	Enhancers	HMEC	breast
23	chr7:39655600-39656200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:39655600-39656200	Enhancers	HSMMtube	muscle
25	chr7:39655600-39660400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:39655800-39656000	Enhancers	Small Intestine	intestine
27	chr7:39655800-39661000	Weak transcription	K562	blood

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