Variant report

Variant	rs12432262
Chromosome Location	chr14:79747043-79747044
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11627269	0.87[ASW][hapmap];0.92[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11628045	0.83[EUR][1000 genomes]
rs1184263	0.90[CEU][hapmap]
rs12882688	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882872	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12884217	0.91[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs12888606	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17598373	0.90[CHD][hapmap]
rs1868635	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122434	0.92[CHD][hapmap]
rs2219846	0.92[CEU][hapmap];0.88[TSI][hapmap]
rs4359363	0.92[CEU][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4899737	1.00[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs4899738	0.87[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs56711325	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61995413	0.84[EUR][1000 genomes]
rs7153957	0.92[CEU][hapmap]
rs7161543	0.87[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs7492515	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv528346	chr14:79683956-79747251	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79744800-79747200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:79744800-79747600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:79744800-79747600	Bivalent/Poised TSS	A549	lung
4	chr14:79744800-79747800	Bivalent/Poised TSS	NHLF	lung
5	chr14:79744800-79748400	Bivalent/Poised TSS	HSMM	muscle
6	chr14:79744800-79748600	Active TSS	Right Atrium	heart
7	chr14:79745000-79748000	Active TSS	Aorta	Aorta
8	chr14:79745000-79749400	Active TSS	Osteobl	bone
9	chr14:79745200-79747200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
10	chr14:79745200-79748600	Active TSS	Placenta Amnion	Placenta Amnion
11	chr14:79745200-79748600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr14:79745200-79749400	Active TSS	Colon Smooth Muscle	Colon
13	chr14:79745400-79753600	Active TSS	Stomach Smooth Muscle	stomach
14	chr14:79745600-79752000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:79746200-79747200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr14:79746200-79747200	Bivalent Enhancer	Fetal Lung	lung
17	chr14:79746200-79748400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:79746400-79747200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:79746400-79747200	Bivalent/Poised TSS	HSMMtube	muscle
20	chr14:79746400-79747200	Flanking Bivalent TSS/Enh	NH-A	brain
21	chr14:79746400-79747400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:79746400-79748800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr14:79746600-79747200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr14:79746600-79747200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:79746600-79747200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:79746600-79747200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:79746600-79747200	Bivalent/Poised TSS	Colonic Mucosa	Colon
28	chr14:79746600-79747200	Active TSS	Esophagus	oesophagus
29	chr14:79746600-79747400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr14:79746600-79747800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr14:79746600-79747800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr14:79746600-79747800	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr14:79746600-79748000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr14:79746600-79748400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:79746600-79748600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:79746600-79749200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:79746800-79747200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
38	chr14:79746800-79747200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:79746800-79747200	Enhancers	Gastric	stomach
40	chr14:79746800-79747200	Bivalent/Poised TSS	HUVEC	blood vessel
41	chr14:79746800-79747800	Active TSS	Brain Germinal Matrix	brain
42	chr14:79746800-79748800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr14:79746800-79749400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr14:79746800-79750200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr14:79747000-79747200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
46	chr14:79747000-79747200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
47	chr14:79747000-79747200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:79747000-79747200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:79747000-79747200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:79747000-79747200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links