Variant report

Variant	rs2268957
Chromosome Location	chr14:66113233-66113234
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	chr14:66111572..66114792-chr14:66115017..66117759,3	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11849252	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs11849862	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11850847	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11851013	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11851772	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12431420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12433827	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12434585	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12435908	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12437427	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17246259	0.91[AMR][1000 genomes]
rs17826580	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs17826724	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs17826736	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs17826790	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17826796	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17826820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998035	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];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073294	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2152375	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2184602	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs2268958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268960	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2268963	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2300867	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2300871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57012661	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57201867	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57451368	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58032513	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58115860	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58227678	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59117465	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59204447	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59561356	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59676254	0.81[AMR][1000 genomes]
rs59685862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59921977	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60396689	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60554055	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60942639	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61038704	0.80[EUR][1000 genomes]
rs61315421	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61533229	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140261	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7153679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73268512	0.91[AMR][1000 genomes]
rs73268521	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73268524	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73268557	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73284121	0.81[AMR][1000 genomes]
rs73284133	0.81[AMR][1000 genomes]
rs73284143	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73286118	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73286169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73286173	0.91[AMR][1000 genomes]
rs8005309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8018909	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8019491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635251	0.81[AMR][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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66077600-66114400	Weak transcription	Ovary	ovary
2	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
3	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
4	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
5	chr14:66086400-66119600	Weak transcription	Pancreas	Pancrea
6	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
7	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:66098000-66116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:66098000-66125000	Weak transcription	Brain Substantia Nigra	brain
10	chr14:66098200-66115200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:66098200-66118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:66099200-66115200	Weak transcription	Placenta	Placenta
14	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:66104600-66115600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:66104600-66117200	Weak transcription	Fetal Intestine Small	intestine
19	chr14:66104800-66116400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:66105000-66117600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:66105000-66125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:66105000-66143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
24	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:66105200-66117400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:66105200-66119000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:66105200-66120200	Weak transcription	NH-A	brain
28	chr14:66105200-66135600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:66105200-66136000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:66107000-66126400	Weak transcription	Stomach Mucosa	stomach
31	chr14:66110800-66113800	Strong transcription	GM12878-XiMat	blood
32	chr14:66110800-66116200	Strong transcription	Dnd41	blood
33	chr14:66111600-66114000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:66111600-66114000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr14:66112200-66122800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:66112400-66113400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:66112600-66122400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:66112800-66113400	Enhancers	Gastric	stomach
39	chr14:66112800-66116600	Strong transcription	Primary T cells from cord blood	blood
40	chr14:66113200-66113400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr14:66113200-66114000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:66113200-66117200	Weak transcription	Primary B cells from cord blood	blood
43	chr14:66113200-66117400	Weak transcription	Brain Hippocampus Middle	brain

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