Variant report

Variant	esv3398217
Chromosome Location	chr8:124682758-124683189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:
2	chr8:124576323..124577993-chr8:124681885..124683478,2	MCF-7	breast:
3	chr8:124682726..124685073-chr8:124688160..124690901,3	MCF-7	breast:
4	chr8:124678619..124681390-chr8:124681929..124684973,3	K562	blood:
5	chr8:124553226..124555664-chr8:124681802..124684718,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529477242	chr8:124682801-124682802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563470517	chr8:124682811-124682812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189230114	chr8:124682837-124682838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201398409	chr8:124682886-124682887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558411931	chr8:124682889-124682890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576858046	chr8:124682899-124682900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34218333	chr8:124682971-124682972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11783892	chr8:124682988-124682989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182272343	chr8:124683000-124683001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11787409	chr8:124683017-124683018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs60093890	chr8:124683020-124683021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542105428	chr8:124683021-124683022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185469391	chr8:124683045-124683046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189483983	chr8:124683060-124683061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560392521	chr8:124683098-124683099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555109355	chr8:124683099-124683100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60080128	chr8:124683124-124683125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75475957	chr8:124683126-124683127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369614205	chr8:124683150-124683151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374394148	chr8:124683172-124683173	Weak transcription Enhancers	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
Acute myeloid leukemia	20729466	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
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
Multiple myeloma	17550852	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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124673400-124684200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
3	chr8:124678600-124683600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:124679000-124683600	Weak transcription	Right Ventricle	heart
5	chr8:124680400-124684200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124680400-124684400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:124680600-124683800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:124680600-124684200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:124680600-124684200	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:124680600-124684200	Enhancers	NH-A	brain
11	chr8:124680600-124684200	Enhancers	Osteobl	bone
12	chr8:124680600-124684400	Enhancers	HMEC	breast
13	chr8:124680800-124683600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:124680800-124684200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:124680800-124684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:124680800-124684200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:124681000-124682800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:124681000-124683000	Weak transcription	HUVEC	blood vessel
19	chr8:124681000-124683600	Weak transcription	Placenta	Placenta
20	chr8:124681000-124684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:124681000-124684600	Enhancers	NHDF-Ad	bronchial
22	chr8:124681200-124684000	Enhancers	Brain Hippocampus Middle	brain
23	chr8:124681200-124684200	Enhancers	Ovary	ovary
24	chr8:124681200-124684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:124681400-124682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:124681400-124682800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:124681400-124683000	Enhancers	NHLF	lung
28	chr8:124681400-124683200	Enhancers	A549	lung
29	chr8:124681400-124684400	Enhancers	Fetal Intestine Small	intestine
30	chr8:124681600-124683200	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:124681600-124683600	Weak transcription	Aorta	Aorta
32	chr8:124681600-124684200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:124681800-124682800	Weak transcription	Psoas Muscle	Psoas
34	chr8:124681800-124683400	Weak transcription	Brain Anterior Caudate	brain
35	chr8:124681800-124683400	Weak transcription	Fetal Stomach	stomach
36	chr8:124681800-124683600	Weak transcription	Brain Angular Gyrus	brain
37	chr8:124681800-124683600	Weak transcription	Left Ventricle	heart
38	chr8:124681800-124683600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:124681800-124683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:124681800-124683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:124682000-124683400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:124682000-124683400	Weak transcription	HSMMtube	muscle
43	chr8:124682200-124683400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:124682200-124683400	Weak transcription	Brain Substantia Nigra	brain
45	chr8:124682200-124683400	Weak transcription	Stomach Mucosa	stomach
46	chr8:124682200-124683600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:124682200-124683800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:124682400-124683600	Enhancers	Colonic Mucosa	Colon
49	chr8:124682400-124686600	Weak transcription	Fetal Heart	heart
50	chr8:124682600-124682800	Enhancers	Duodenum Mucosa	Duodenum

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