Variant report

Variant	esv3389360
Chromosome Location	chr8:124682157-124682745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124680792..124682751-chr8:124780380..124781997,2	MCF-7	breast:
2	chr8:124576323..124577993-chr8:124681885..124683478,2	MCF-7	breast:
3	chr8:124678619..124681390-chr8:124681929..124684973,3	K562	blood:
4	chr8:124682726..124685073-chr8:124688160..124690901,3	MCF-7	breast:
5	chr8:124553226..124555664-chr8:124681802..124684718,3	MCF-7	breast:
6	chr8:124673351..124678204-chr8:124678247..124683296,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	chromatin interactions
ENSG00000176853	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538204816	chr8:124682216-124682217	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551822631	chr8:124682236-124682237	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570716654	chr8:124682372-124682373	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200910576	chr8:124682430-124682431	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10429327	chr8:124682431-124682432	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201668142	chr8:124682435-124682436	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371996264	chr8:124682436-124682437	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147039328	chr8:124682446-124682447	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs116369310	chr8:124682447-124682448	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368683981	chr8:124682453-124682454	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370935801	chr8:124682454-124682455	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372327633	chr8:124682455-124682456	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371009846	chr8:124682460-124682461	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375352435	chr8:124682463-124682464	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369078346	chr8:124682469-124682470	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565890571	chr8:124682488-124682489	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535324188	chr8:124682522-124682523	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73324236	chr8:124682529-124682530	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540023505	chr8:124682608-124682609	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs575265648	chr8:124682614-124682615	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112040280	chr8:124682641-124682642	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563750324	chr8:124682694-124682695	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192708669	chr8:124682732-124682733	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184278375	chr8:124682733-124682734	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543420499	chr8:124682745-124682746	Enhancers Weak transcription	Chromatin interactive region	2 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:69 , 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	chr8:124680800-124682400	Enhancers	Fetal Heart	heart
14	chr8:124680800-124683600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124680800-124684200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:124680800-124684200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:124680800-124684200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:124681000-124682200	Enhancers	Brain Substantia Nigra	brain
19	chr8:124681000-124682800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:124681000-124683000	Weak transcription	HUVEC	blood vessel
21	chr8:124681000-124683600	Weak transcription	Placenta	Placenta
22	chr8:124681000-124684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:124681000-124684600	Enhancers	NHDF-Ad	bronchial
24	chr8:124681200-124682200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:124681200-124684000	Enhancers	Brain Hippocampus Middle	brain
26	chr8:124681200-124684200	Enhancers	Ovary	ovary
27	chr8:124681200-124684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:124681400-124682200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:124681400-124682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:124681400-124682800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr8:124681400-124683000	Enhancers	NHLF	lung
32	chr8:124681400-124683200	Enhancers	A549	lung
33	chr8:124681400-124684400	Enhancers	Fetal Intestine Small	intestine
34	chr8:124681600-124682200	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:124681600-124682200	Enhancers	Stomach Mucosa	stomach
36	chr8:124681600-124682600	Weak transcription	HSMM	muscle
37	chr8:124681600-124682600	Weak transcription	NHEK	skin
38	chr8:124681600-124683200	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:124681600-124683600	Weak transcription	Aorta	Aorta
40	chr8:124681600-124684200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:124681800-124682400	Weak transcription	Colonic Mucosa	Colon
42	chr8:124681800-124682600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:124681800-124682600	Weak transcription	Small Intestine	intestine
44	chr8:124681800-124682800	Weak transcription	Psoas Muscle	Psoas
45	chr8:124681800-124683400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:124681800-124683400	Weak transcription	Fetal Stomach	stomach
47	chr8:124681800-124683600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:124681800-124683600	Weak transcription	Left Ventricle	heart
49	chr8:124681800-124683600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:124681800-124683600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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