Variant report

Variant	rs11052252
Chromosome Location	chr12:32957528-32957529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10772002	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844354	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10844355	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844356	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844357	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844358	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844361	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844367	0.86[ASN][1000 genomes]
rs11052236	0.92[ASN][1000 genomes]
rs11052244	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11052247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052249	0.94[ASN][1000 genomes]
rs11052250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052251	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052261	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11525539	0.90[ASN][1000 genomes]
rs11533495	0.93[ASN][1000 genomes]
rs11534764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11534765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11561218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12228193	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231019	0.82[ASN][1000 genomes]
rs12299188	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12299276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580216	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3789978	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3850972	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850973	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850974	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3907042	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4931038	0.82[ASN][1000 genomes]
rs56798911	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59748919	0.83[ASN][1000 genomes]
rs7133291	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138758	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7138787	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302586	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73301721	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73301724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73301773	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960291	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963034	0.92[ASN][1000 genomes]
rs7974049	0.87[ASN][1000 genomes]
rs7975210	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9988940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9988941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9988988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9989018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32940800-32961800	Weak transcription	Colonic Mucosa	Colon
2	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
4	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
5	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:32946200-32961400	Weak transcription	HepG2	liver
8	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
9	chr12:32948000-32957600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:32949200-32961400	Weak transcription	Fetal Stomach	stomach
11	chr12:32949200-32961400	Weak transcription	Pancreas	Pancrea
12	chr12:32949200-32961800	Weak transcription	Gastric	stomach
13	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:32953600-32960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:32953600-32961600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:32953800-32961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:32953800-32961600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:32954200-32963400	Weak transcription	HMEC	breast
21	chr12:32954400-32958200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:32954400-32958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:32954400-32961800	Weak transcription	Left Ventricle	heart
24	chr12:32954400-32962000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:32954400-32962000	Weak transcription	Right Ventricle	heart
26	chr12:32954400-32968800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:32955000-32961400	Weak transcription	Fetal Heart	heart
28	chr12:32955000-32961400	Weak transcription	NHEK	skin
29	chr12:32955400-32962000	Weak transcription	Liver	Liver
30	chr12:32955400-32962600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:32955600-32958600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:32955600-32960800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:32955600-32961400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:32955600-32961400	Weak transcription	Placenta	Placenta
35	chr12:32955600-32961600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:32956000-32961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:32956400-32960800	Weak transcription	Fetal Intestine Small	intestine
38	chr12:32956800-32959000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:32957000-32957800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:32957200-32957600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:32957400-32959000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:32957400-32959000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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