Variant report

Variant	rs11615932
Chromosome Location	chr12:32953073-32953074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56686514	0.90[AFR][1000 genomes]
rs58332051	0.90[AFR][1000 genomes]
rs61669309	0.87[AFR][1000 genomes]
rs73301713	0.90[AFR][1000 genomes]
rs73301753	0.90[AFR][1000 genomes]
rs73301775	0.90[AFR][1000 genomes]
rs73301781	0.90[AFR][1000 genomes]
rs73301783	0.90[AFR][1000 genomes]
rs73301801	0.90[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11615932	PLEKHG4	trans	lymphoblastoid	seeQTL
rs11615932	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32939200-32955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:32940800-32961800	Weak transcription	Colonic Mucosa	Colon
3	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:32942000-32957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
6	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
7	chr12:32945800-32954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:32946200-32961400	Weak transcription	HepG2	liver
11	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
12	chr12:32948000-32957600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:32949000-32955000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:32949200-32953200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:32949200-32953400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:32949200-32953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:32949200-32955200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:32949200-32961400	Weak transcription	Fetal Stomach	stomach
19	chr12:32949200-32961400	Weak transcription	Pancreas	Pancrea
20	chr12:32949200-32961800	Weak transcription	Gastric	stomach
21	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:32951400-32953800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:32951400-32954400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:32951400-32955400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:32951400-32955400	Weak transcription	Fetal Intestine Small	intestine
28	chr12:32952400-32953200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr12:32952400-32953200	ZNF genes & repeats	Fetal Heart	heart
30	chr12:32952400-32955600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:32952400-32955600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr12:32952600-32953800	Strong transcription	Fetal Intestine Large	intestine
33	chr12:32952600-32954400	Strong transcription	Left Ventricle	heart
34	chr12:32952600-32954400	Strong transcription	Right Ventricle	heart
35	chr12:32952600-32955400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:32952600-32955600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:32952800-32953600	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr12:32953000-32953400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr12:32953000-32953600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr12:32953000-32954200	Strong transcription	HMEC	breast
41	chr12:32953000-32955000	Strong transcription	NHEK	skin
42	chr12:32953000-32955400	Strong transcription	Liver	Liver
43	chr12:32953000-32955600	Strong transcription	Placenta	Placenta
44	chr12:32953000-32955600	Strong transcription	Rectal Mucosa Donor 29	rectum

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