Variant report

Variant	rs67391943
Chromosome Location	chr2:184049401-184049402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184049106..184051291-chr2:184055965..184058710,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10167583	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10194747	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11695124	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11900745	0.84[ASN][1000 genomes]
rs11901151	0.84[ASN][1000 genomes]
rs12990133	0.87[ASN][1000 genomes]
rs13033866	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400131	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1462532	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1462533	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1829122	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882444	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2368375	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368377	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2368382	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675045	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2675046	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2675082	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2675087	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2675090	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675102	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675108	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2705727	0.83[AFR][1000 genomes]
rs2705760	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2944353	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2952361	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2952363	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35898950	0.90[ASN][1000 genomes]
rs36116390	0.92[ASN][1000 genomes]
rs3791249	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4599071	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666891	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4666894	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666897	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55865107	0.90[ASN][1000 genomes]
rs58605274	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6705441	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709729	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6713182	0.84[ASN][1000 genomes]
rs6714769	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6733392	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6744793	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754942	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6755399	0.90[ASN][1000 genomes]
rs6761345	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67952840	0.87[ASN][1000 genomes]
rs68009860	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7570918	0.90[ASN][1000 genomes]
rs7600893	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7601311	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs925806	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
2	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
5	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
6	chr2:184019000-184050000	Weak transcription	Gastric	stomach
7	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
8	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:184029200-184050000	Weak transcription	HUVEC	blood vessel
13	chr2:184029200-184054800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:184029400-184050200	Weak transcription	Osteobl	bone
16	chr2:184029400-184053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:184031200-184050200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:184031200-184057600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:184031400-184052800	Weak transcription	Fetal Thymus	thymus
20	chr2:184036800-184050200	Weak transcription	Spleen	Spleen
21	chr2:184037600-184050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:184037600-184050200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:184037600-184057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:184043600-184055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:184043800-184050200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:184044000-184063000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:184044200-184050000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:184044200-184050200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:184044400-184050000	Weak transcription	Right Ventricle	heart
30	chr2:184044400-184050200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:184044400-184050200	Weak transcription	Left Ventricle	heart
32	chr2:184044400-184071600	Weak transcription	NH-A	brain
33	chr2:184044600-184050000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:184044600-184050000	Weak transcription	Esophagus	oesophagus
35	chr2:184044600-184050000	Weak transcription	Lung	lung
36	chr2:184044600-184050000	Weak transcription	Ovary	ovary
37	chr2:184044600-184050200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:184044800-184050000	Weak transcription	Fetal Stomach	stomach
39	chr2:184044800-184050200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:184045400-184057800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:184045600-184050400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:184045600-184051800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:184045800-184052200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:184045800-184057400	Weak transcription	Fetal Kidney	kidney
45	chr2:184046000-184050400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:184047000-184051200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr2:184047200-184050600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:184047200-184050600	Strong transcription	Primary B cells from cord blood	blood
49	chr2:184047200-184051200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:184047200-184056800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links