Variant report

Variant	rs56686514
Chromosome Location	chr12:32947617-32947618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11615932	0.90[AFR][1000 genomes]
rs1454931	0.83[AFR][1000 genomes]
rs58332051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59521087	0.86[AFR][1000 genomes]
rs61669309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299928	0.83[AFR][1000 genomes]
rs73299935	0.83[AFR][1000 genomes]
rs73299937	0.83[AFR][1000 genomes]
rs73299944	0.83[AFR][1000 genomes]
rs73299947	0.83[AFR][1000 genomes]
rs73301713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301801	1.00[AFR][1000 genomes];1.00[AMR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32936200-32948800	Weak transcription	Fetal Stomach	stomach
2	chr12:32938600-32948600	Weak transcription	Gastric	stomach
3	chr12:32938600-32952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:32938800-32950600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:32939200-32955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:32940800-32961800	Weak transcription	Colonic Mucosa	Colon
7	chr12:32941200-32949200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:32941800-32948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:32942000-32949400	Strong transcription	Liver	Liver
11	chr12:32942000-32957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:32942200-32950600	Weak transcription	Ovary	ovary
13	chr12:32942400-32950600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:32943200-32948200	Weak transcription	Right Ventricle	heart
15	chr12:32943800-32948600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
17	chr12:32944000-32949200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:32944200-32948200	Weak transcription	Pancreas	Pancrea
19	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
20	chr12:32944400-32949200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:32944600-32949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:32944600-32949800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:32944800-32949200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:32945000-32949200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:32945000-32949200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:32945600-32948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:32945800-32948400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32945800-32950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:32945800-32954600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:32946000-32948600	Weak transcription	Fetal Intestine Large	intestine
32	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:32946200-32961400	Weak transcription	HepG2	liver
34	chr12:32946600-32949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:32946600-32949200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:32946600-32967200	Weak transcription	Stomach Mucosa	stomach
37	chr12:32946800-32949000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:32946800-32949200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:32946800-32949400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:32946800-32951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:32947000-32948000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:32947000-32948000	Enhancers	Fetal Heart	heart
43	chr12:32947000-32949200	Strong transcription	NHEK	skin
44	chr12:32947200-32949400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr12:32947400-32949200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr12:32947400-32949200	Strong transcription	HMEC	breast
47	chr12:32947400-32950000	Strong transcription	Placenta	Placenta
48	chr12:32947400-32950000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:32947600-32947800	Enhancers	Fetal Lung	lung
50	chr12:32947600-32949000	Strong transcription	Left Ventricle	heart

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