Variant report

Variant	rs16831706
Chromosome Location	chr2:190450461-190450462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16831704	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831722	0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs16831726	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17271246	1.00[CHB][hapmap]
rs4667289	0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs4667290	0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs59734206	1.00[EUR][1000 genomes]
rs71401208	1.00[EUR][1000 genomes]
rs73980242	1.00[EUR][1000 genomes]
rs73980244	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190447400-190452200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:190448400-190457400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:190448600-190450600	Enhancers	Liver	Liver
4	chr2:190448600-190450600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:190448600-190451400	Enhancers	Ovary	ovary
6	chr2:190449400-190450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:190449600-190450600	Enhancers	Stomach Mucosa	stomach
8	chr2:190449800-190450600	Enhancers	HMEC	breast
9	chr2:190449800-190450600	Enhancers	K562	blood
10	chr2:190449800-190452400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:190450200-190450600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:190450200-190450600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:190450200-190450600	Enhancers	HUVEC	blood vessel
14	chr2:190450200-190450600	Enhancers	NHEK	skin
15	chr2:190450200-190451200	Weak transcription	HepG2	liver
16	chr2:190450400-190450600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:190450400-190450600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:190450400-190452400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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