Variant report

Variant	rs881572
Chromosome Location	chr2:10857137-10857138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10803727	0.81[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap]
rs10929676	0.94[CHB][hapmap]
rs10929693	1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs11695330	0.81[CEU][hapmap]
rs12468286	0.86[LWK][hapmap]
rs13396733	0.87[CHB][hapmap]
rs13403486	0.88[CHB][hapmap]
rs17364568	0.90[CEU][hapmap]
rs4233885	0.94[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4614910	0.81[CEU][hapmap]
rs4669605	0.81[CEU][hapmap]
rs4669606	0.81[CEU][hapmap]
rs4669614	0.81[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap]
rs759398	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs881572	PDIA6	cis	parietal	SCAN
rs881572	CYS1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10852800-10857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:10853000-10857600	Weak transcription	Placenta	Placenta
3	chr2:10855000-10858600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:10856600-10857200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10856600-10857600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:10856600-10857600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10856800-10857200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:10856800-10857600	Enhancers	Hela-S3	cervix
9	chr2:10856800-10857600	Enhancers	HMEC	breast
10	chr2:10856800-10857600	Enhancers	HUVEC	blood vessel
11	chr2:10856800-10857600	Enhancers	NHEK	skin
12	chr2:10856800-10858200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10856800-10858400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:10856800-10858600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:10857000-10857600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:10857000-10858600	Bivalent Enhancer	H9 Derived Neuron Cultured 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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