Variant report

Variant	rs10911902
Chromosome Location	chr1:186632317-186632318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12134877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145329	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16825773	0.84[ASN][1000 genomes]
rs3119331	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs3131554	0.89[CEU][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs61810348	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6658482	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs6684038	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Schizophrenia	18347602	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10911902	OCLM	cis	parietal	SCAN
rs10911902	KIAA1614	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186626800-186632800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:186630400-186633200	Enhancers	NHEK	skin
3	chr1:186630400-186633400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:186630400-186640200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:186631400-186632800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:186631400-186632800	Enhancers	HUVEC	blood vessel
7	chr1:186631400-186633000	Enhancers	HMEC	breast
8	chr1:186631400-186633200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:186631400-186633200	Enhancers	Hela-S3	cervix
10	chr1:186631800-186632600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:186631800-186632600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:186632000-186632800	Enhancers	Fetal Lung	lung

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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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