Variant report

Variant	rs11052006
Chromosome Location	chr12:32593057-32593058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10844202	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051966	0.88[AMR][1000 genomes]
rs11051967	0.88[AMR][1000 genomes]
rs11051980	0.88[AMR][1000 genomes]
rs11051993	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12367135	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12815894	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12819555	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2047643	0.88[AMR][1000 genomes]
rs2087166	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61927215	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299524	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971525	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883404	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv469347	chr12:32555846-32602079	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv558189	chr12:32555846-32602079	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:32573400-32593400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:32580400-32593200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:32582600-32593600	Weak transcription	Fetal Stomach	stomach
5	chr12:32582600-32598600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:32589000-32593400	Enhancers	HMEC	breast
7	chr12:32589400-32598400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:32589600-32597400	Weak transcription	Stomach Mucosa	stomach
9	chr12:32590200-32597800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:32590400-32593400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:32590400-32593400	Weak transcription	Left Ventricle	heart
12	chr12:32590400-32593800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:32590600-32593200	Weak transcription	Ovary	ovary
14	chr12:32590600-32593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:32590800-32594400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:32590800-32594400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:32591000-32593200	Weak transcription	Esophagus	oesophagus
18	chr12:32591000-32597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:32591000-32597600	Weak transcription	HepG2	liver
20	chr12:32591000-32599600	Weak transcription	Lung	lung
21	chr12:32591200-32593200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:32591200-32593200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:32591200-32593800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr12:32591200-32597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:32591400-32593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:32591400-32593200	Weak transcription	HUVEC	blood vessel
27	chr12:32591400-32593800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:32591400-32596200	Weak transcription	A549	lung
29	chr12:32591400-32597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32591800-32593200	Weak transcription	Placenta	Placenta
31	chr12:32591800-32593400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:32591800-32593400	Weak transcription	Fetal Intestine Small	intestine
33	chr12:32592000-32594000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:32592200-32593200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:32592400-32593200	Enhancers	NHEK	skin
36	chr12:32592400-32594200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:32592400-32594200	Enhancers	Adipose Nuclei	Adipose
38	chr12:32592400-32594800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:32592600-32593400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:32592600-32593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:32592600-32594000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:32592600-32594400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:32592600-32608600	Weak transcription	Stomach Smooth Muscle	stomach

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