Variant report

Variant	rs7597463
Chromosome Location	chr2:168066167-168066168
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10451542	0.95[JPT][hapmap]
rs1155284	0.80[JPT][hapmap]
rs11893771	0.88[AMR][1000 genomes]
rs1479592	0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs16853050	0.83[CEU][hapmap]
rs16853057	0.90[JPT][hapmap]
rs16853185	0.82[JPT][hapmap]
rs16853217	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4000962	0.81[EUR][1000 genomes]
rs6711844	0.90[JPT][hapmap]
rs6720352	0.81[JPT][hapmap]
rs6731283	0.82[AMR][1000 genomes]
rs7585061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988445	0.95[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	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168049600-168078800	Weak transcription	Right Ventricle	heart
2	chr2:168056800-168114000	Weak transcription	Psoas Muscle	Psoas
3	chr2:168058000-168067200	Weak transcription	Left Ventricle	heart
4	chr2:168065400-168066400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:168065400-168068800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:168065800-168066600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:168065800-168066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:168065800-168067200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:168065800-168068200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:168066000-168066400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:168066000-168066600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:168066000-168066600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:168066000-168067200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:168066000-168067200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:168066000-168067200	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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