Variant report

Variant	rs2273316
Chromosome Location	chr14:39545521-39545522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39544544..39547535-chr14:39553591..39556378,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10459481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10872915	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558739	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11620885	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622021	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11628065	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12184985	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432236	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12433305	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12435383	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436766	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17616038	1.00[CEU][hapmap]
rs17616116	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs17678595	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17678780	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1884385	0.92[CEU][hapmap]
rs1964841	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2415534	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34417819	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35802696	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57049071	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57120608	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61999361	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61999428	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61999432	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999433	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999434	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999436	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61999439	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61999443	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61999444	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61999445	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62000580	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7157388	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.80[EUR][1000 genomes]
rs7158043	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72673310	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs761808	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9322995	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9788627	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.83[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526000-39557200	Strong transcription	Osteobl	bone
3	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:39526800-39552600	Weak transcription	Gastric	stomach
5	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
7	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
8	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:39527400-39549000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:39527600-39554200	Weak transcription	K562	blood
15	chr14:39528000-39547800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
17	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:39528200-39545800	Strong transcription	Dnd41	blood
19	chr14:39528200-39548800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:39529800-39554200	Weak transcription	Fetal Brain Male	brain
25	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
26	chr14:39530600-39552000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
28	chr14:39531400-39545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:39534200-39545800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:39534600-39554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:39534800-39547600	Weak transcription	Hela-S3	cervix
35	chr14:39534800-39553600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:39535000-39550000	Weak transcription	NHLF	lung
37	chr14:39535400-39553600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:39536000-39554200	Weak transcription	Pancreas	Pancrea
39	chr14:39537600-39545800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
42	chr14:39538400-39547400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:39538400-39547800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:39538400-39548000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:39538600-39548000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:39538600-39548000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:39538800-39545800	Strong transcription	Primary B cells from cord blood	blood
49	chr14:39538800-39547000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:39538800-39547600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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