Variant report

Variant	rs7303237
Chromosome Location	chr12:119848513-119848514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11064784	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064788	0.91[CEU][hapmap]
rs11612392	0.87[EUR][1000 genomes]
rs11614625	0.83[CEU][hapmap]
rs12296267	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304310	0.83[CEU][hapmap]
rs12320164	0.83[ASW][hapmap];0.83[CEU][hapmap]
rs12322637	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7303237	HPD	cis	cerebellum	SCAN
rs7303237	FBXW8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
2	chr12:119845000-119849600	Weak transcription	Lung	lung
3	chr12:119847000-119849400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:119847000-119849600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:119847400-119851000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:119847800-119848600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:119848000-119848600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:119848200-119848600	Enhancers	Fetal Heart	heart
9	chr12:119848200-119849200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:119848400-119848600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:119848400-119850000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:119848400-119850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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