Variant report

Variant	rs10841523
Chromosome Location	chr12:20588575-20588576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10841519	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs10841522	0.81[CEU][hapmap];0.87[GIH][hapmap];0.83[TSI][hapmap]
rs10841524	0.95[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841532	0.86[MKK][hapmap]
rs10841535	0.82[MKK][hapmap]
rs10841544	1.00[LWK][hapmap];0.85[MKK][hapmap]
rs11045239	0.85[AMR][1000 genomes]
rs11045244	0.86[AMR][1000 genomes]
rs11045245	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11045301	1.00[LWK][hapmap]
rs11045351	1.00[LWK][hapmap]
rs12367495	0.86[AMR][1000 genomes]
rs7488869	1.00[LWK][hapmap]
rs7489190	0.92[AMR][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20568200-20588600	Weak transcription	Small Intestine	intestine
2	chr12:20568600-20588800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20568600-20595400	Weak transcription	Pancreas	Pancrea
4	chr12:20573800-20599800	Weak transcription	Left Ventricle	heart
5	chr12:20576800-20589000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:20578200-20588600	Weak transcription	Aorta	Aorta
7	chr12:20578800-20597000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:20583000-20590600	Weak transcription	Fetal Stomach	stomach
9	chr12:20583800-20588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:20583800-20592400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:20585400-20589000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:20586800-20589400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:20586800-20589600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:20587000-20589800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:20587200-20590200	Enhancers	Fetal Intestine Large	intestine
16	chr12:20587400-20589200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:20587400-20590600	Enhancers	Fetal Intestine Small	intestine
18	chr12:20587600-20592200	Enhancers	Osteobl	bone
19	chr12:20587600-20599000	Weak transcription	Right Atrium	heart
20	chr12:20587800-20589000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:20587800-20596600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:20588000-20588800	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:20588000-20591000	Enhancers	NHDF-Ad	bronchial
24	chr12:20588000-20591400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:20588000-20592000	Enhancers	HUVEC	blood vessel
26	chr12:20588200-20589000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:20588200-20589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:20588200-20590800	Weak transcription	Right Ventricle	heart
29	chr12:20588200-20591600	Genic enhancers	Hela-S3	cervix
30	chr12:20588200-20618400	Weak transcription	Ovary	ovary
31	chr12:20588400-20588600	Enhancers	Colon Smooth Muscle	Colon
32	chr12:20588400-20588600	Enhancers	A549	lung
33	chr12:20588400-20589400	Enhancers	Rectal Mucosa Donor 29	rectum

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