Variant report

Variant	rs10272438
Chromosome Location	chr7:33238834-33238835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:33228994..33231017-chr7:33236127..33239068,2	K562	blood:
2	chr7:33237252..33238973-chr7:33242666..33244868,2	K562	blood:
3	chr7:33237473..33239165-chr7:33243368..33246191,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10225173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10228486	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10251775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10262453	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10271927	1.00[ASN][1000 genomes]
rs12534242	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12536300	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12537512	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12538476	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12538649	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1345306	1.00[ASN][1000 genomes]
rs1420153	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1420154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1590140	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17396870	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17724206	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1919786	0.83[AMR][1000 genomes]
rs1983511	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28435377	0.91[ASN][1000 genomes]
rs3843532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4720113	0.91[ASN][1000 genomes]
rs4720114	0.91[ASN][1000 genomes]
rs4723276	0.91[ASN][1000 genomes]
rs6946608	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6947352	0.83[ASN][1000 genomes]
rs6979640	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7785463	1.00[ASN][1000 genomes]
rs7789007	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9768604	1.00[CHB][hapmap];0.83[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	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1796696	chr7:33236199-33243642	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10272438	BBS9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
3	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
4	chr7:33230800-33248000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:33236200-33240200	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:33236400-33239800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:33236400-33240000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:33236400-33244400	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:33236400-33247800	Weak transcription	Fetal Heart	heart
10	chr7:33236600-33239800	Weak transcription	Osteobl	bone
11	chr7:33236800-33249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:33237000-33239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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