Variant report

Variant	rs12084951
Chromosome Location	chr1:195683900-195683901
allele	G/T
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:7)

rs_ID	r²[population]
rs10921901	0.89[ASN][1000 genomes]
rs10921910	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12058702	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12073430	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12074591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12085908	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12096479	1.00[EUR][1000 genomes];0.96[ASN][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	nsv872894	chr1:195053221-195745968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1009307	chr1:195368381-195726703	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv872932	chr1:195447286-195736070	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1004171	chr1:195470205-195687680	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv997435	chr1:195567159-195687680	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv947460	chr1:195646625-195689578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv467271	chr1:195649363-195687201	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv548717	chr1:195649363-195687201	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195682000-195686800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:195682800-195684800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:195683000-195684600	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:195683000-195684800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:195683000-195685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:195683400-195684000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:195683400-195684000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:195683600-195684000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:195683600-195684200	Enhancers	A549	lung
10	chr1:195683600-195684600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:195683600-195684800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:195683600-195684800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:195683600-195684800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:195683800-195684600	Enhancers	NHDF-Ad	bronchial
15	chr1:195683800-195684800	Enhancers	HUES64 Cell Line	embryonic stem cell

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

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