Variant report

Variant	rs61931461
Chromosome Location	chr12:40340779-40340780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10877823	0.94[ASN][1000 genomes]
rs10877832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877836	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877840	0.99[ASN][1000 genomes]
rs11174315	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174351	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174374	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174535	0.85[EUR][1000 genomes]
rs11559994	0.94[ASN][1000 genomes]
rs11564285	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230558	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132747	0.99[ASN][1000 genomes]
rs28370600	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370692	0.84[AFR][1000 genomes]
rs28370709	0.84[AFR][1000 genomes]
rs28740190	0.84[AFR][1000 genomes]
rs7136390	0.99[ASN][1000 genomes]
rs7297783	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305863	0.99[ASN][1000 genomes]
rs7312341	0.99[ASN][1000 genomes]
rs7316296	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960023	0.91[ASN][1000 genomes]
rs7973509	0.99[ASN][1000 genomes]
rs7974169	0.99[ASN][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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40334000-40343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:40334200-40343600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:40337400-40350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:40337800-40341000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:40338600-40346600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:40339200-40341600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:40339800-40340800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:40339800-40340800	Enhancers	HMEC	breast
10	chr12:40340000-40340800	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr12:40340000-40341000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:40340200-40340800	Strong transcription	Fetal Intestine Large	intestine
13	chr12:40340600-40342200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:40340600-40342200	Weak transcription	Ovary	ovary

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