Variant report

Variant	rs8084365
Chromosome Location	chr18:12879737-12879738
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12875420..12877466-chr18:12879544..12881307,2	MCF-7	breast:
2	chr18:12833814..12836436-chr18:12879380..12882256,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs2292758	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34846641	0.87[AFR][1000 genomes]
rs3826556	0.85[ASN][1000 genomes]
rs45579734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471401	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4797707	0.82[ASN][1000 genomes]
rs4797708	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507304	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56384328	0.88[ASN][1000 genomes]
rs578377	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58200120	0.85[ASN][1000 genomes]
rs59471125	0.85[ASN][1000 genomes]
rs607906	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60803113	0.88[ASN][1000 genomes]
rs622717	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs637643	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505769	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669822	0.85[ASN][1000 genomes]
rs670671	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs683468	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7234029	0.98[AFR][1000 genomes]
rs7238238	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241016	0.96[AFR][1000 genomes]
rs7241650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872144	0.87[ASN][1000 genomes]
rs73950681	0.83[ASN][1000 genomes]
rs73950683	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73950684	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73950685	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8083786	0.96[AFR][1000 genomes]
rs8091305	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098730	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954778	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9959061	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9961827	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9961931	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966378	0.83[EUR][1000 genomes];0.97[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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS 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	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12844200-12879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr18:12857800-12881600	Weak transcription	Fetal Stomach	stomach
3	chr18:12863200-12879800	Weak transcription	Hela-S3	cervix
4	chr18:12863200-12880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:12863400-12879800	Weak transcription	NHEK	skin
6	chr18:12863400-12881400	Weak transcription	Right Atrium	heart
7	chr18:12863600-12880000	Weak transcription	Esophagus	oesophagus
8	chr18:12863600-12882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:12863800-12880000	Weak transcription	Small Intestine	intestine
10	chr18:12863800-12880200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:12864400-12880000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:12865000-12881800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:12865200-12879800	Weak transcription	Fetal Lung	lung
14	chr18:12865800-12883000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:12872400-12881600	Weak transcription	Ovary	ovary
16	chr18:12873400-12879800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:12874400-12880200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12875600-12882800	Enhancers	Primary B cells from peripheral blood	blood
19	chr18:12875800-12879800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:12875800-12879800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:12875800-12879800	Weak transcription	Brain Angular Gyrus	brain
22	chr18:12875800-12882000	Weak transcription	HSMM	muscle
23	chr18:12876000-12882000	Weak transcription	Fetal Intestine Large	intestine
24	chr18:12876200-12879800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:12876200-12880000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:12876400-12881200	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:12876600-12880000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:12877200-12879800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr18:12877200-12879800	Enhancers	Thymus	Thymus
30	chr18:12877400-12881600	Weak transcription	Fetal Intestine Small	intestine
31	chr18:12877600-12881600	Weak transcription	Right Ventricle	heart
32	chr18:12877600-12882200	Weak transcription	Fetal Heart	heart
33	chr18:12877800-12882400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:12878000-12882600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr18:12878200-12882400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr18:12878400-12882000	Enhancers	HepG2	liver
37	chr18:12878600-12880000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr18:12878600-12880000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr18:12878600-12881200	Enhancers	Spleen	Spleen
40	chr18:12878600-12881400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:12878600-12882600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr18:12878600-12882600	Enhancers	Duodenum Mucosa	Duodenum
43	chr18:12878600-12882800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr18:12878600-12882800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:12878800-12880000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:12878800-12880000	Weak transcription	Placenta	Placenta
47	chr18:12878800-12880000	Enhancers	K562	blood
48	chr18:12878800-12880400	Enhancers	Primary B cells from cord blood	blood
49	chr18:12878800-12880400	Flanking Active TSS	Fetal Thymus	thymus
50	chr18:12878800-12882400	Flanking Active TSS	GM12878-XiMat	blood

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