Variant report

Variant	rs74072938
Chromosome Location	chr12:32955330-32955331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55837897	0.95[AFR][1000 genomes]
rs58006606	0.95[AFR][1000 genomes]
rs58699667	0.95[AFR][1000 genomes]
rs59404292	0.91[AFR][1000 genomes]
rs7299736	0.91[AFR][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:44 , 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	chr12:32942000-32957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
5	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
6	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:32946200-32961400	Weak transcription	HepG2	liver
9	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
10	chr12:32948000-32957600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:32949200-32961400	Weak transcription	Fetal Stomach	stomach
12	chr12:32949200-32961400	Weak transcription	Pancreas	Pancrea
13	chr12:32949200-32961800	Weak transcription	Gastric	stomach
14	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:32951400-32955400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:32951400-32955400	Weak transcription	Fetal Intestine Small	intestine
19	chr12:32952400-32955600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:32952400-32955600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr12:32952600-32955400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:32952600-32955600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32953000-32955400	Strong transcription	Liver	Liver
24	chr12:32953000-32955600	Strong transcription	Placenta	Placenta
25	chr12:32953000-32955600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:32953600-32956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:32953600-32960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32953600-32961600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:32953800-32957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32953800-32961400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:32953800-32961600	Weak transcription	Fetal Intestine Large	intestine
32	chr12:32954200-32963400	Weak transcription	HMEC	breast
33	chr12:32954400-32958200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:32954400-32958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:32954400-32961800	Weak transcription	Left Ventricle	heart
36	chr12:32954400-32962000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:32954400-32962000	Weak transcription	Right Ventricle	heart
38	chr12:32954400-32968800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:32954600-32955600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:32955000-32955400	Enhancers	Fetal Lung	lung
41	chr12:32955000-32957200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:32955000-32961400	Weak transcription	Fetal Heart	heart
43	chr12:32955000-32961400	Weak transcription	NHEK	skin
44	chr12:32955200-32956000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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