Variant report

Variant	rs10232000
Chromosome Location	chr7:33552840-33552841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10224676	0.91[YRI][hapmap]
rs10235827	0.91[YRI][hapmap]
rs10238097	0.91[YRI][hapmap]
rs10245585	0.91[YRI][hapmap]
rs10267018	0.91[YRI][hapmap]
rs10272151	0.91[YRI][hapmap]
rs10275218	0.91[YRI][hapmap]
rs10279696	0.91[YRI][hapmap]
rs11769528	0.82[CHB][hapmap];0.88[MEX][hapmap]
rs12674093	0.83[CHB][hapmap]
rs17170269	0.80[JPT][hapmap]
rs17170271	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17794801	0.83[CHB][hapmap]
rs2041417	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2109526	0.82[CHB][hapmap];0.88[MEX][hapmap]
rs3779239	0.81[JPT][hapmap]
rs4723291	0.83[CHB][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	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933237	chr7:33470390-33574046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv933018	chr7:33506325-33707270	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830945	chr7:33526648-33670592	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10232000	BBS9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33540800-33568600	Weak transcription	Left Ventricle	heart
2	chr7:33541200-33554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:33541400-33567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:33542400-33574200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:33543000-33557000	Weak transcription	Gastric	stomach
6	chr7:33543400-33555000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:33543600-33574200	Weak transcription	Ovary	ovary
8	chr7:33543800-33555800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:33545800-33554800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:33547000-33579400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:33547400-33557000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:33547600-33557800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:33551800-33554200	Weak transcription	Fetal Stomach	stomach
14	chr7:33552400-33553000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:33552400-33555200	Weak transcription	Fetal Lung	lung
16	chr7:33552800-33557000	Weak transcription	Aorta	Aorta

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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