Variant report

Variant	rs12432763
Chromosome Location	chr14:104268758-104268759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104268190..104272252-chr14:104312561..104316180,5	MCF-7	breast:
2	chr14:104267919..104269606-chr14:104271598..104273311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11623518	0.83[EUR][1000 genomes]
rs11625216	0.96[EUR][1000 genomes]
rs11625521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11625613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs11625676	0.83[EUR][1000 genomes]
rs11626714	0.81[EUR][1000 genomes]
rs11627337	0.91[EUR][1000 genomes]
rs11851462	0.85[EUR][1000 genomes]
rs12435668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436297	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17101871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45604035	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4641668	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs56971743	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57560950	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57952067	0.83[EUR][1000 genomes]
rs58369398	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58411502	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320483	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60431526	0.83[EUR][1000 genomes]
rs730114	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs73350555	0.86[EUR][1000 genomes]
rs73350563	0.81[EUR][1000 genomes]
rs73367074	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006493	1.00[ASW][hapmap];1.00[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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8016928	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 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	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:104216200-104268800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
4	chr14:104218800-104270200	Weak transcription	Ovary	ovary
5	chr14:104228800-104270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:104230600-104271600	Weak transcription	Esophagus	oesophagus
7	chr14:104236800-104272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:104238800-104270400	Weak transcription	HUVEC	blood vessel
9	chr14:104239000-104272400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:104241000-104274400	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:104245200-104271400	Weak transcription	Right Ventricle	heart
12	chr14:104257600-104272000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:104257800-104284000	Weak transcription	Gastric	stomach
14	chr14:104258800-104274800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:104261800-104268800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:104262600-104269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:104262600-104277200	Weak transcription	Pancreas	Pancrea
18	chr14:104263000-104277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:104263200-104281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:104263600-104274600	Weak transcription	Liver	Liver
21	chr14:104263800-104275800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:104267200-104269000	Enhancers	Left Ventricle	heart
23	chr14:104267200-104271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:104267600-104268800	Enhancers	HepG2	liver
25	chr14:104267600-104269000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:104267600-104269000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:104267600-104269000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:104267600-104269000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:104267600-104269200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:104267600-104269600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr14:104267600-104271000	Enhancers	HMEC	breast
32	chr14:104268000-104268800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:104268000-104268800	Weak transcription	Right Atrium	heart
34	chr14:104268000-104269200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:104268000-104271200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:104268200-104270200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:104268400-104269000	Enhancers	Placenta	Placenta
38	chr14:104268400-104269200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:104268400-104269400	Flanking Active TSS	NHEK	skin
40	chr14:104268400-104270200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:104268600-104269200	Enhancers	Fetal Heart	heart
42	chr14:104268600-104270000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:104268600-104270000	Weak transcription	Osteobl	bone
44	chr14:104268600-104270200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:104268600-104285600	Weak transcription	Lung	lung

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