Variant report

Variant	rs7694851
Chromosome Location	chr4:89788422-89788423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89778194..89779923-chr4:89788297..89790207,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11930723	1.00[AMR][1000 genomes]
rs11935135	1.00[AMR][1000 genomes]
rs11944060	1.00[AMR][1000 genomes]
rs11944063	1.00[AMR][1000 genomes]
rs11944131	1.00[AMR][1000 genomes]
rs11944133	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6847513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7663500	1.00[AMR][1000 genomes]
rs7673199	0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89768800-89789400	Weak transcription	Fetal Intestine Small	intestine
2	chr4:89771000-89803200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:89780800-89800600	Weak transcription	Pancreas	Pancrea
4	chr4:89782400-89801200	Weak transcription	Ovary	ovary
5	chr4:89785800-89788800	Enhancers	HMEC	breast
6	chr4:89785800-89789000	Enhancers	NHEK	skin
7	chr4:89786000-89788800	Enhancers	NHDF-Ad	bronchial
8	chr4:89786400-89789000	Enhancers	HUVEC	blood vessel
9	chr4:89787400-89801200	Weak transcription	Placenta	Placenta
10	chr4:89787800-89788600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:89787800-89788600	Enhancers	Osteobl	bone
12	chr4:89787800-89788800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:89787800-89788800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:89787800-89789000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:89788200-89788600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr4:89788200-89788600	Enhancers	HSMM	muscle
17	chr4:89788200-89788600	Enhancers	K562	blood
18	chr4:89788200-89788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:89788200-89788800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:89788200-89788800	Enhancers	Stomach Mucosa	stomach
21	chr4:89788200-89790400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:89788400-89788600	Enhancers	NHLF	lung
23	chr4:89788400-89788800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:89788400-89791600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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