Variant report

Variant	esv3398548
Chromosome Location	chr8:125878960-125879332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125878699..125880326-chr8:125918486..125921255,2	MCF-7	breast:
2	chr8:125794468..125796266-chr8:125877977..125879830,2	MCF-7	breast:
3	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
4	chr8:125738820..125741858-chr8:125878076..125881062,3	MCF-7	breast:
5	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:
6	chr8:125739588..125741798-chr8:125878766..125880835,2	MCF-7	breast:
7	chr8:125877381..125879616-chr8:125926000..125927902,2	MCF-7	breast:
8	chr8:125874768..125876836-chr8:125878794..125880786,2	MCF-7	breast:
9	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170873	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9694326	chr8:125878998-125878999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530733123	chr8:125878999-125879000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6470296	chr8:125879019-125879020	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570039405	chr8:125879035-125879036	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538707733	chr8:125879154-125879155	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181853151	chr8:125879176-125879177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377524976	chr8:125879199-125879200	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186542668	chr8:125879271-125879272	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4871561	chr8:125879281-125879282	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550589413	chr8:125879320-125879321	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125870200-125879000	Weak transcription	Fetal Heart	heart
2	chr8:125870600-125879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
4	chr8:125873800-125880200	Weak transcription	Left Ventricle	heart
5	chr8:125874400-125884800	Weak transcription	Right Atrium	heart
6	chr8:125874800-125879200	Weak transcription	Right Ventricle	heart
7	chr8:125877000-125879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125877000-125879800	Enhancers	NHDF-Ad	bronchial
9	chr8:125878000-125879400	Enhancers	HSMMtube	muscle
10	chr8:125878000-125879600	Enhancers	HSMM	muscle
11	chr8:125878000-125879600	Enhancers	NH-A	brain
12	chr8:125878000-125879800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:125878000-125879800	Enhancers	HMEC	breast
14	chr8:125878000-125879800	Enhancers	NHEK	skin
15	chr8:125878000-125880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:125878000-125880600	Enhancers	NHLF	lung
17	chr8:125878000-125881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:125878000-125881000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:125878200-125879000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:125878200-125879400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:125878200-125879600	Enhancers	Osteobl	bone
22	chr8:125878200-125879800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:125878200-125879800	Enhancers	K562	blood
24	chr8:125878200-125880400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:125878200-125880800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:125878200-125880800	Enhancers	HUVEC	blood vessel
27	chr8:125878400-125879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:125878400-125879200	Weak transcription	Psoas Muscle	Psoas
29	chr8:125878400-125879200	Enhancers	Hela-S3	cervix
30	chr8:125878400-125879600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:125878400-125879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:125878400-125880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:125878600-125879400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:125878800-125879000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:125878800-125879400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:125878800-125880600	Enhancers	Placenta	Placenta
37	chr8:125879000-125879200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:125879000-125879200	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:125879000-125879400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:125879000-125879800	Enhancers	Fetal Heart	heart
41	chr8:125879200-125879400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:125879200-125879400	Enhancers	Psoas Muscle	Psoas
43	chr8:125879200-125879400	Enhancers	Right Ventricle	heart
44	chr8:125879200-125879600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:125879200-125879600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links