Variant report

Variant	rs11675787
Chromosome Location	chr2:31357943-31357944
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11684970	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12105231	0.80[ASN][1000 genomes]
rs12989636	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1562023	0.80[ASN][1000 genomes]
rs2008535	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59588353	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60245472	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543605	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543606	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6743542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6747497	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7560152	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7560583	0.95[ASN][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31347800-31358800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:31350000-31359600	Weak transcription	Pancreas	Pancrea
3	chr2:31351600-31358600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31351600-31359600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:31353400-31358600	Enhancers	Brain Germinal Matrix	brain
6	chr2:31353400-31359600	Weak transcription	Spleen	Spleen
7	chr2:31355600-31358600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:31355800-31358800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:31355800-31359200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:31356000-31358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:31356000-31359200	Weak transcription	HMEC	breast
12	chr2:31356200-31358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:31356800-31359000	Weak transcription	NHEK	skin
14	chr2:31357200-31358400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:31357400-31359200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:31357800-31358200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr2:31357800-31358600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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