Variant report

Variant	rs2593278
Chromosome Location	chr15:76147597-76147598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76136467..76138938-chr15:76146625..76148978,2	MCF-7	breast:
2	chr15:76140669..76144139-chr15:76145486..76148047,3	MCF-7	breast:
3	chr15:76145771..76148111-chr15:76152063..76154131,2	MCF-7	breast:
4	chr15:76146991..76149009-chr15:76171055..76173285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140367	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12910576	0.84[AMR][1000 genomes]
rs12915012	0.82[AMR][1000 genomes]
rs1695378	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1699263	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs184580	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs189197	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2255701	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441929	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2455899	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2460798	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460800	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2469039	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2593277	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2593280	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28876229	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs334934	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs335681	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs335697	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs335706	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs335711	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886747	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886753	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4886754	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71403522	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8024155	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs985849	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv974601	chr15:76139204-76160467	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76137200-76166200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:76137600-76147600	Weak transcription	Fetal Intestine Small	intestine
3	chr15:76137600-76155400	Weak transcription	Stomach Mucosa	stomach
4	chr15:76137600-76165000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:76137800-76152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:76137800-76165800	Weak transcription	Liver	Liver
7	chr15:76137800-76166000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:76137800-76188400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:76138000-76151000	Weak transcription	Primary B cells from cord blood	blood
10	chr15:76138000-76179600	Weak transcription	Small Intestine	intestine
11	chr15:76138200-76148200	Weak transcription	Fetal Intestine Large	intestine
12	chr15:76138200-76150600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:76138200-76150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:76138200-76153600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:76138200-76154000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:76138200-76154200	Weak transcription	Gastric	stomach
17	chr15:76138200-76154200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:76138200-76154200	Weak transcription	Right Atrium	heart
19	chr15:76138200-76161800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:76138200-76166000	Weak transcription	Aorta	Aorta
21	chr15:76138200-76166000	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:76138200-76166000	Weak transcription	Pancreas	Pancrea
23	chr15:76138200-76166000	Weak transcription	Spleen	Spleen
24	chr15:76138200-76183000	Weak transcription	Hela-S3	cervix
25	chr15:76138200-76195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:76138200-76195400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:76138400-76153000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:76138400-76153000	Weak transcription	Thymus	Thymus
29	chr15:76138400-76155000	Weak transcription	NH-A	brain
30	chr15:76138400-76184000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:76138800-76166000	Weak transcription	Esophagus	oesophagus
32	chr15:76138800-76169200	Weak transcription	Psoas Muscle	Psoas
33	chr15:76139400-76147600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:76139400-76152400	Weak transcription	NHDF-Ad	bronchial
35	chr15:76139400-76153200	Weak transcription	Placenta	Placenta
36	chr15:76139800-76150800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:76140000-76148400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:76140000-76156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:76140000-76161800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:76140000-76165800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:76140000-76184000	Weak transcription	Fetal Kidney	kidney
42	chr15:76140400-76166000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:76140600-76153000	Weak transcription	Fetal Brain Female	brain
44	chr15:76140600-76165600	Weak transcription	Fetal Brain Male	brain
45	chr15:76140800-76147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:76140800-76148000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:76140800-76148000	Weak transcription	Adipose Nuclei	Adipose
48	chr15:76140800-76148000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:76141000-76147800	Weak transcription	GM12878-XiMat	blood
50	chr15:76141000-76148000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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