Variant report

Variant	rs4972939
Chromosome Location	chr2:231024518-231024519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1365775	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1549567	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap]
rs6436913	0.81[ASN][1000 genomes]
rs6721137	1.00[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv875943	chr2:230960946-231027162	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv518470	chr2:231018169-231027162	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231018200-231026000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:231019400-231024600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:231020600-231028400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:231022400-231024800	Weak transcription	Spleen	Spleen
5	chr2:231022400-231029200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:231022600-231024600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:231022800-231024600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:231022800-231024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:231023000-231029000	Weak transcription	GM12878-XiMat	blood
10	chr2:231023600-231030000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:231023600-231032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:231024400-231024600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:231024400-231025000	Enhancers	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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