Variant report

Variant	rs7138758
Chromosome Location	chr12:32949427-32949428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10772002	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10772003	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844354	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844355	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844356	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844357	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844358	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844360	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844361	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844362	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844365	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052236	0.82[ASN][1000 genomes]
rs11052244	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11052247	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11052249	0.81[ASN][1000 genomes]
rs11052250	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11052251	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11052252	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052253	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052255	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052261	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11534764	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11534765	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11561218	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228193	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12299188	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12299276	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12580216	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789978	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850972	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3850973	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3850974	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3907042	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56798911	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58705262	0.80[ASN][1000 genomes]
rs59688266	0.80[ASN][1000 genomes]
rs7133291	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7138787	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7302586	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73301721	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73301724	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73301773	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7960291	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963034	0.82[ASN][1000 genomes]
rs7975210	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9988940	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9988941	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9988988	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9989018	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][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	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
4	esv1851844	chr12:32929596-32953032	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32938600-32952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32938800-32950600	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:32939200-32955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:32940800-32961800	Weak transcription	Colonic Mucosa	Colon
5	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:32942000-32957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:32942200-32950600	Weak transcription	Ovary	ovary
8	chr12:32942400-32950600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
10	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
11	chr12:32944600-32949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:32944600-32949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:32945800-32950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:32945800-32954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:32946200-32961400	Weak transcription	HepG2	liver
18	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
19	chr12:32946800-32951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:32947400-32950000	Strong transcription	Placenta	Placenta
21	chr12:32947400-32950000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr12:32947600-32951400	Strong transcription	Fetal Intestine Small	intestine
23	chr12:32948000-32952400	Weak transcription	Fetal Heart	heart
24	chr12:32948000-32957600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:32949000-32952600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:32949000-32955000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:32949200-32949600	Weak transcription	HSMMtube	muscle
28	chr12:32949200-32951400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:32949200-32952400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:32949200-32952400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:32949200-32952600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:32949200-32952600	Weak transcription	Left Ventricle	heart
33	chr12:32949200-32952600	Weak transcription	Right Ventricle	heart
34	chr12:32949200-32953000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:32949200-32953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:32949200-32953000	Weak transcription	HMEC	breast
37	chr12:32949200-32953000	Weak transcription	NHEK	skin
38	chr12:32949200-32953200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:32949200-32953400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:32949200-32953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:32949200-32955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:32949200-32961400	Weak transcription	Fetal Stomach	stomach
43	chr12:32949200-32961400	Weak transcription	Pancreas	Pancrea
44	chr12:32949200-32961800	Weak transcription	Gastric	stomach
45	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:32949400-32950200	Weak transcription	Fetal Intestine Large	intestine
49	chr12:32949400-32952800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:32949400-32953000	Weak transcription	Liver	Liver

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