Variant report

Variant	esv3357442
Chromosome Location	chr8:1787603-1788671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548246662	chr8:1787603-1787604	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111162132	chr8:1787635-1787636	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374806253	chr8:1787652-1787653	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11992836	chr8:1787658-1787659	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371935144	chr8:1787674-1787675	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530519110	chr8:1787676-1787677	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550314136	chr8:1787723-1787724	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373670758	chr8:1787733-1787734	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111162133	chr8:1787769-1787770	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368760400	chr8:1787771-1787772	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111162134	chr8:1787778-1787779	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111162135	chr8:1787795-1787796	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202095067	chr8:1787843-1787844	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146396245	chr8:1787844-1787845	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370299885	chr8:1787846-1787847	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372163268	chr8:1787861-1787862	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375336836	chr8:1787877-1787878	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369580765	chr8:1787893-1787894	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111154246	chr8:1787898-1787899	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371802673	chr8:1787937-1787938	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199696697	chr8:1787950-1787951	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552714613	chr8:1787964-1787965	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200516105	chr8:1787974-1787975	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186429291	chr8:1787978-1787979	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369279618	chr8:1787989-1787990	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386720688	chr8:1788021-1788022	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112595724	chr8:1788030-1788031	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555041575	chr8:1788036-1788037	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374878879	chr8:1788047-1788048	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201682642	chr8:1788069-1788070	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544405766	chr8:1788083-1788084	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374537411	chr8:1788085-1788086	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368353735	chr8:1788087-1788088	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377696731	chr8:1788117-1788118	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111154247	chr8:1788118-1788119	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557415899	chr8:1788149-1788150	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577581638	chr8:1788153-1788154	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546507252	chr8:1788184-1788185	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116995197	chr8:1788204-1788205	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370987879	chr8:1788261-1788262	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190006875	chr8:1788309-1788310	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56287974	chr8:1788312-1788313	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542099882	chr8:1788315-1788316	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62477495	chr8:1788332-1788333	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182104706	chr8:1788340-1788341	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377243836	chr8:1788345-1788346	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530523570	chr8:1788364-1788365	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370463705	chr8:1788389-1788390	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374442657	chr8:1788418-1788419	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56323413	chr8:1788468-1788469	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1789400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
3	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:1774000-1789200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
7	chr8:1775000-1788800	Weak transcription	Fetal Brain Female	brain
8	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
10	chr8:1778400-1790400	Weak transcription	Osteobl	bone
11	chr8:1778600-1790400	Weak transcription	HUVEC	blood vessel
12	chr8:1779200-1788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:1779200-1790400	Weak transcription	NH-A	brain
14	chr8:1780200-1790800	Weak transcription	HSMM	muscle
15	chr8:1780400-1790400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:1780400-1790400	Weak transcription	NHEK	skin
17	chr8:1780600-1790400	Weak transcription	Esophagus	oesophagus
18	chr8:1780600-1792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
20	chr8:1783000-1788800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:1783400-1791600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:1783600-1792200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:1783800-1790200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:1783800-1792200	Weak transcription	Placenta	Placenta
25	chr8:1784000-1787800	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:1784000-1788600	Weak transcription	Gastric	stomach
27	chr8:1784000-1788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:1784000-1788800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:1784000-1789200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:1784000-1789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:1784000-1789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:1784000-1789600	Weak transcription	Adipose Nuclei	Adipose
33	chr8:1784000-1790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:1784000-1790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:1784000-1791000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:1784000-1791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:1784000-1792000	Weak transcription	A549	lung
38	chr8:1784200-1791000	Weak transcription	NHLF	lung
39	chr8:1784200-1792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:1784600-1790600	Weak transcription	Aorta	Aorta
41	chr8:1784800-1788600	Weak transcription	Pancreas	Pancrea
42	chr8:1784800-1788800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:1784800-1789000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:1784800-1791200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:1784800-1791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:1785000-1789600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:1785000-1790400	Weak transcription	HMEC	breast
48	chr8:1785400-1789000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:1785600-1790800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:1786400-1790400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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