Variant report

Variant	rs12989618
Chromosome Location	chr2:184052596-184052597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11894093	0.85[ASN][1000 genomes]
rs11900745	0.81[AFR][1000 genomes]
rs11904060	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12105081	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12992879	0.84[ASN][1000 genomes]
rs12993299	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12994342	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13008910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017363	0.95[ASN][1000 genomes]
rs13023488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13023969	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13024949	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1316974	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1806531	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34100542	0.94[ASN][1000 genomes]
rs34266937	0.95[ASN][1000 genomes]
rs34424877	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34426887	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs34591399	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34743637	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34767214	0.87[ASN][1000 genomes]
rs34921390	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967913	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35220507	0.94[ASN][1000 genomes]
rs35290003	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35479161	0.97[ASN][1000 genomes]
rs35661877	0.84[ASN][1000 genomes]
rs35672629	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35799804	0.87[ASN][1000 genomes]
rs35873918	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36021851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36054361	0.84[ASN][1000 genomes]
rs36100240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748884	0.88[ASN][1000 genomes]
rs3762477	0.84[ASN][1000 genomes]
rs55865107	0.84[AFR][1000 genomes]
rs6434007	0.91[ASN][1000 genomes]
rs6434008	0.92[ASN][1000 genomes]
rs6434009	0.92[ASN][1000 genomes]
rs6705625	1.00[ASN][1000 genomes]
rs6705795	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6709753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6715963	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6724387	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729425	0.94[ASN][1000 genomes]
rs6730009	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6732406	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6740679	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6748218	0.94[ASN][1000 genomes]
rs6754901	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6754938	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6759975	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71427875	0.87[ASN][1000 genomes]
rs71427877	0.84[ASN][1000 genomes]
rs71427878	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71427880	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73977848	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7571226	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7587081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7592910	0.87[ASN][1000 genomes]
rs7597557	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9917390	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
4	chr2:184019000-184053400	Weak transcription	Placenta	Placenta
5	chr2:184026000-184054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:184029200-184054800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:184029400-184053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:184031200-184057600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:184031400-184052800	Weak transcription	Fetal Thymus	thymus
14	chr2:184037600-184057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:184043600-184055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:184044000-184063000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:184044400-184071600	Weak transcription	NH-A	brain
18	chr2:184045400-184057800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:184045800-184057400	Weak transcription	Fetal Kidney	kidney
20	chr2:184047200-184056800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:184047400-184053200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:184047400-184054000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:184047400-184056400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:184047800-184059600	Weak transcription	Hela-S3	cervix
25	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:184048400-184055800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:184048400-184058400	Strong transcription	Dnd41	blood
28	chr2:184048400-184059000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:184048600-184054000	Strong transcription	HepG2	liver
30	chr2:184048600-184059800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:184048800-184055000	Strong transcription	Liver	Liver
32	chr2:184048800-184055800	Weak transcription	NHEK	skin
33	chr2:184048800-184071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:184049000-184055200	Weak transcription	HSMM	muscle
35	chr2:184049000-184055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:184049000-184056800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:184049000-184056800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:184049000-184058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:184049000-184062200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:184049000-184072000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:184049000-184072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:184049400-184059600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:184049400-184062600	Weak transcription	HMEC	breast
45	chr2:184049600-184055600	Strong transcription	Primary T cells from cord blood	blood
46	chr2:184049600-184057400	Weak transcription	Brain Anterior Caudate	brain
47	chr2:184050000-184053000	Strong transcription	Fetal Stomach	stomach
48	chr2:184050000-184053800	Strong transcription	Fetal Intestine Small	intestine
49	chr2:184050000-184053800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:184050000-184054000	Strong transcription	Duodenum Mucosa	Duodenum

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