Variant report

Variant	rs4666894
Chromosome Location	chr2:184032480-184032481
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	chr12:103034147..103036030-chr2:184031138..184032660,2	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]
rs10153562	0.81[YRI][hapmap]
rs10167583	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10179245	0.89[YRI][hapmap]
rs10181735	0.89[YRI][hapmap]
rs10191080	0.88[YRI][hapmap]
rs10194747	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11695124	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11900745	0.87[ASN][1000 genomes]
rs11901151	0.86[ASN][1000 genomes]
rs12612008	0.86[YRI][hapmap]
rs12990133	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs13033866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400131	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462532	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462533	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1473617	0.91[YRI][hapmap]
rs1829122	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1882444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368375	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2368377	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2368382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2675045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2675046	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2675082	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2675087	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2675090	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2675102	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2675108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2705727	0.87[AFR][1000 genomes]
rs2705760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2944353	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2952361	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2952363	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35898950	0.90[ASN][1000 genomes]
rs36116390	0.88[ASN][1000 genomes]
rs3791249	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4599071	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4666888	0.89[YRI][hapmap]
rs4666891	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55865107	0.90[ASN][1000 genomes]
rs58605274	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6705441	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6709729	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6713182	0.87[ASN][1000 genomes]
rs6714769	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6733392	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67391943	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6744793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754942	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6755399	0.90[ASN][1000 genomes]
rs6761345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67952840	0.91[ASN][1000 genomes]
rs68009860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7569854	0.92[YRI][hapmap]
rs7570918	0.90[ASN][1000 genomes]
rs7571759	0.81[ASN][1000 genomes]
rs7600893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7601311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608545	0.89[YRI][hapmap]
rs925806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers 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	9 gene(s)	inside rSNPs	diseases
7	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv821842	chr2:184030701-184037931	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
7	chr2:183991400-184034000	Weak transcription	NHLF	lung
8	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
9	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
10	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
12	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
13	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
16	chr2:184018400-184047400	Weak transcription	Pancreas	Pancrea
17	chr2:184019000-184036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:184019000-184043600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:184019000-184050000	Weak transcription	Gastric	stomach
20	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
21	chr2:184023000-184033000	Strong transcription	Primary T cells from cord blood	blood
22	chr2:184023400-184034200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:184026600-184043200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:184026800-184047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:184027400-184035800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:184028600-184045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:184028800-184043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:184028800-184043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:184029000-184036400	Weak transcription	Spleen	Spleen
34	chr2:184029000-184047400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:184029200-184036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:184029200-184043000	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:184029200-184043200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:184029200-184043600	Weak transcription	Right Ventricle	heart
39	chr2:184029200-184047200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:184029200-184047200	Weak transcription	HepG2	liver
41	chr2:184029200-184047400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:184029200-184047400	Weak transcription	HSMM	muscle
43	chr2:184029200-184050000	Weak transcription	HUVEC	blood vessel
44	chr2:184029200-184054800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:184029400-184033200	Weak transcription	NHEK	skin
47	chr2:184029400-184039200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:184029400-184040400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:184029400-184043400	Weak transcription	Adipose Nuclei	Adipose
50	chr2:184029400-184043400	Weak transcription	Left Ventricle	heart

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