Variant report

Variant	rs72992773
Chromosome Location	chr2:142291811-142291812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16846430	0.92[AFR][1000 genomes]
rs57341800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976076	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv583210	chr2:142259592-142295042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv459629	chr2:142263400-142295042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv583211	chr2:142263400-142295042	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv583212	chr2:142263979-142309330	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv459640	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv583213	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142291200-142292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:142291200-142292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:142291200-142292200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:142291200-142292400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:142291200-142293200	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:142291200-142293400	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:142291200-142293400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:142291600-142292000	Enhancers	GM12878-XiMat	blood
9	chr2:142291600-142292200	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:142291600-142293200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:142291600-142293400	Enhancers	Primary T cells from cord blood	blood
12	chr2:142291600-142293400	Enhancers	Brain Hippocampus Middle	brain
13	chr2:142291800-142292000	Active TSS	Brain Anterior Caudate	brain
14	chr2:142291800-142292000	Active TSS	Brain Substantia Nigra	brain
15	chr2:142291800-142292400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr2:142291800-142293000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:142291800-142293400	Enhancers	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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