Variant report

Variant	rs2008891
Chromosome Location	chr4:55269576-55269577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1507959	1.00[AMR][1000 genomes]
rs1507960	1.00[AMR][1000 genomes]
rs1562057	1.00[AMR][1000 genomes]
rs2008894	1.00[AMR][1000 genomes]
rs4864886	1.00[AMR][1000 genomes]
rs4864888	1.00[AMR][1000 genomes]
rs60089093	1.00[AMR][1000 genomes]
rs6812224	1.00[AMR][1000 genomes]
rs6841931	1.00[AMR][1000 genomes]
rs6851205	1.00[AMR][1000 genomes]
rs6855353	1.00[AMR][1000 genomes]
rs7356494	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv4344	chr4:55260607-55305235	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55267200-55270800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:55267600-55275200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:55268800-55269600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:55269200-55269600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:55269200-55269600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:55269200-55269600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:55269200-55269600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:55269200-55269600	Enhancers	Brain Angular Gyrus	brain
9	chr4:55269200-55269600	Active TSS	Brain Anterior Caudate	brain
10	chr4:55269200-55269600	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr4:55269400-55269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:55269400-55269600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:55269400-55269600	Bivalent/Poised TSS	K562	blood
14	chr4:55269400-55269600	Enhancers	NHEK	skin
15	chr4:55269400-55273800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:55269400-55274600	Weak transcription	Adipose Nuclei	Adipose

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dbSNP/dbVar ID: rs12345 /nsv7879
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