Variant report

Variant	rs57166215
Chromosome Location	chr12:32946754-32946755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16920249	1.00[ASN][1000 genomes]
rs1869652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61500775	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73299972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303630	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972313	1.00[ASN][1000 genomes]
rs9919823	1.00[EUR][1000 genomes];1.00[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	chr12:32936200-32948800	Weak transcription	Fetal Stomach	stomach
2	chr12:32936400-32947000	Weak transcription	Fetal Heart	heart
3	chr12:32938600-32948600	Weak transcription	Gastric	stomach
4	chr12:32938600-32952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:32938800-32950600	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:32939200-32955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:32940800-32961800	Weak transcription	Colonic Mucosa	Colon
8	chr12:32941200-32949200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32941800-32948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:32942000-32949400	Strong transcription	Liver	Liver
12	chr12:32942000-32957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:32942200-32950600	Weak transcription	Ovary	ovary
14	chr12:32942400-32950600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:32943200-32948200	Weak transcription	Right Ventricle	heart
16	chr12:32943800-32947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:32943800-32948600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
19	chr12:32944000-32949200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:32944200-32947400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:32944200-32948200	Weak transcription	Pancreas	Pancrea
22	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
23	chr12:32944400-32949200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:32944600-32949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:32944600-32949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:32944800-32949200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:32945000-32947400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:32945000-32949200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:32945000-32949200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:32945600-32948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:32945800-32947000	Weak transcription	NHEK	skin
32	chr12:32945800-32947200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:32945800-32947400	Weak transcription	Placenta	Placenta
34	chr12:32945800-32947400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:32945800-32948400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:32945800-32950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:32945800-32954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:32946000-32946800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:32946000-32946800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:32946000-32946800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:32946000-32947400	Weak transcription	HMEC	breast
43	chr12:32946000-32947600	Weak transcription	Left Ventricle	heart
44	chr12:32946000-32947600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:32946000-32948600	Weak transcription	Fetal Intestine Large	intestine
46	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:32946200-32947600	Weak transcription	Fetal Intestine Small	intestine
48	chr12:32946200-32961400	Weak transcription	HepG2	liver
49	chr12:32946600-32949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:32946600-32949200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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