Variant report

Variant	rs17034734
Chromosome Location	chr12:104246038-104246039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104233313..104235106-chr12:104245857..104249514,3	MCF-7	breast:
2	chr12:104232946..104237794-chr12:104239535..104249085,16	K562	blood:
3	chr12:104244166..104246985-chr12:104247469..104250168,2	MCF-7	breast:
4	chr12:104242898..104244862-chr12:104245301..104247034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10778305	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1165593	0.93[ASN][1000 genomes]
rs1165668	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs1165669	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1165670	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1165675	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs12812668	0.96[ASN][1000 genomes]
rs12815289	0.84[JPT][hapmap]
rs12816512	0.95[ASN][1000 genomes]
rs12816861	0.95[ASN][1000 genomes]
rs12822228	1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs12822539	0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1370411	0.98[ASN][1000 genomes]
rs1370413	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs1370775	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs1866071	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1992207	0.97[ASN][1000 genomes]
rs1992208	0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs2118312	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2252325	0.90[ASN][1000 genomes]
rs2252327	0.90[ASN][1000 genomes]
rs2255296	0.91[ASN][1000 genomes]
rs2255303	0.87[ASN][1000 genomes]
rs2255315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2255316	0.93[ASN][1000 genomes]
rs2255324	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2255568	0.95[ASN][1000 genomes]
rs2255584	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs2255791	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs2255794	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs2255795	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs2255797	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs2255799	0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs2255807	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs2256160	1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2256303	0.93[ASN][1000 genomes]
rs2438111	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs2438112	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs2438113	0.93[ASN][1000 genomes]
rs2438114	1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs2438388	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs2576954	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs2578010	0.96[ASN][1000 genomes]
rs35015549	0.96[ASN][1000 genomes]
rs4453308	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs4453309	0.92[ASN][1000 genomes]
rs4964302	0.92[ASN][1000 genomes]
rs4964304	0.92[ASN][1000 genomes]
rs71466281	0.99[ASN][1000 genomes]
rs71466282	0.99[ASN][1000 genomes]
rs71466283	0.92[ASN][1000 genomes]
rs7973043	0.93[ASN][1000 genomes]
rs7973278	0.92[ASN][1000 genomes]
rs7973401	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
2	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:104236000-104253600	Weak transcription	Gastric	stomach
4	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104236600-104248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:104238200-104246400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:104240000-104247600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:104240000-104254800	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:104241800-104246400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:104242200-104246400	Weak transcription	Fetal Lung	lung
11	chr12:104242200-104248400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:104242400-104246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:104242600-104246800	Enhancers	HMEC	breast
14	chr12:104242800-104246200	Weak transcription	Pancreas	Pancrea
15	chr12:104242800-104247000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:104243600-104246400	Weak transcription	Aorta	Aorta
17	chr12:104243800-104251400	Enhancers	Colon Smooth Muscle	Colon
18	chr12:104244400-104246200	Enhancers	NH-A	brain
19	chr12:104244400-104246800	Enhancers	Brain Anterior Caudate	brain
20	chr12:104244400-104246800	Enhancers	Osteobl	bone
21	chr12:104244600-104246200	Enhancers	Brain Substantia Nigra	brain
22	chr12:104244600-104247000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:104244800-104246600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:104244800-104246800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:104245000-104246800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:104245000-104246800	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:104245000-104247000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:104245000-104250800	Enhancers	HepG2	liver
29	chr12:104245200-104247000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:104245200-104247000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:104245200-104252000	Enhancers	Stomach Smooth Muscle	stomach
32	chr12:104245600-104246400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:104245600-104246800	Enhancers	Fetal Stomach	stomach
34	chr12:104245600-104246800	Enhancers	HSMM	muscle
35	chr12:104245600-104249400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:104245800-104246200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:104245800-104246600	Enhancers	Brain Angular Gyrus	brain
38	chr12:104245800-104248200	Weak transcription	Liver	Liver
39	chr12:104246000-104246400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:104246000-104246600	Enhancers	Brain Hippocampus Middle	brain
41	chr12:104246000-104246600	Enhancers	NHEK	skin
42	chr12:104246000-104246800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:104246000-104246800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:104246000-104246800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:104246000-104246800	Enhancers	Rectal Mucosa Donor 31	rectum

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