Variant report

Variant	rs10229512
Chromosome Location	chr7:26486933-26486934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10235248	0.83[ASN][1000 genomes]
rs10238880	0.89[CEU][hapmap]
rs4719867	0.94[ASN][1000 genomes]
rs4722597	0.94[ASN][1000 genomes]
rs62446475	0.83[ASN][1000 genomes]
rs62446476	0.83[ASN][1000 genomes]
rs7784840	0.95[CEU][hapmap]
rs9654982	0.83[AMR][1000 genomes]

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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10229512	CACNA1I	trans	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26481400-26489000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:26481400-26489000	Weak transcription	Fetal Stomach	stomach
3	chr7:26481600-26487000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:26481600-26487400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:26481600-26488400	Weak transcription	Pancreas	Pancrea
6	chr7:26481600-26490400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:26481600-26491200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:26481600-26498400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:26481800-26490200	Weak transcription	Fetal Kidney	kidney
10	chr7:26482600-26489000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:26484400-26488400	Weak transcription	Lung	lung
12	chr7:26486400-26487000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:26486400-26487600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:26486600-26487200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:26486800-26487000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:26486800-26487400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:26486800-26487600	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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