Variant report

Variant	esv3377474
Chromosome Location	chr8:10261242-10265440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 249 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535274371	chr8:10261251-10261252	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs73662828	chr8:10261257-10261258	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369151882	chr8:10261274-10261275	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs538238752	chr8:10261289-10261290	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs144777702	chr8:10261291-10261292	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs536569811	chr8:10261304-10261305	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs553210575	chr8:10261310-10261311	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs572783795	chr8:10261322-10261323	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs373849429	chr8:10261324-10261325	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs372818934	chr8:10261365-10261366	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558416414	chr8:10261376-10261377	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs28439326	chr8:10261416-10261417	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141363102	chr8:10261454-10261455	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs77480112	chr8:10261461-10261462	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs529421172	chr8:10261480-10261481	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs542982120	chr8:10261482-10261483	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs559981578	chr8:10261500-10261501	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs188902912	chr8:10261506-10261507	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs181310023	chr8:10261507-10261508	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs116146149	chr8:10261515-10261516	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs150806004	chr8:10261523-10261524	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs185377300	chr8:10261538-10261539	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs567496664	chr8:10261600-10261601	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536431327	chr8:10261614-10261615	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs546616388	chr8:10261644-10261645	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs566753817	chr8:10261660-10261661	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs538511592	chr8:10261677-10261678	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs117404814	chr8:10261696-10261697	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs189798725	chr8:10261700-10261701	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs572028051	chr8:10261706-10261707	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs78816416	chr8:10261752-10261753	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs554224897	chr8:10261755-10261756	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs78153579	chr8:10261798-10261799	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs370319182	chr8:10261799-10261800	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs543198967	chr8:10261810-10261811	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs557156257	chr8:10261835-10261836	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs559844254	chr8:10261838-10261839	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs573488993	chr8:10261864-10261865	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs559222193	chr8:10261901-10261902	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs545340406	chr8:10261905-10261906	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs386722158	chr8:10261912-10261913	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs187211738	chr8:10261914-10261915	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs528173543	chr8:10261915-10261916	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs192092054	chr8:10261925-10261926	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs58649963	chr8:10261931-10261932	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs373303786	chr8:10261963-10261964	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs542074662	chr8:10261967-10261968	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs529892825	chr8:10261995-10261996	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs546777324	chr8:10261999-10262000	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs183844357	chr8:10262000-10262001	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:10255200-10267800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:10256000-10267600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10256800-10266400	Weak transcription	Fetal Heart	heart
6	chr8:10257000-10267600	Weak transcription	Right Ventricle	heart
7	chr8:10257000-10274400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:10257600-10267000	Weak transcription	Right Atrium	heart
9	chr8:10258200-10263000	Weak transcription	Spleen	Spleen
10	chr8:10258200-10263200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:10258200-10263200	Weak transcription	Liver	Liver
12	chr8:10258200-10267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:10258200-10274400	Weak transcription	Esophagus	oesophagus
14	chr8:10258400-10263200	Weak transcription	Pancreas	Pancrea
15	chr8:10258400-10265000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:10258600-10262400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:10259600-10263200	Enhancers	Fetal Brain Male	brain
18	chr8:10259600-10263400	Enhancers	HSMMtube	muscle
19	chr8:10259600-10263800	Enhancers	Fetal Muscle Trunk	muscle
20	chr8:10259600-10264200	Enhancers	Fetal Muscle Leg	muscle
21	chr8:10260200-10261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:10261000-10261600	Weak transcription	Psoas Muscle	Psoas
23	chr8:10261000-10262400	Enhancers	Brain Germinal Matrix	brain
24	chr8:10261200-10261400	Enhancers	Brain Anterior Caudate	brain
25	chr8:10261200-10261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:10261200-10263600	Enhancers	Fetal Brain Female	brain
27	chr8:10261200-10263600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr8:10261200-10264600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:10261200-10273000	Weak transcription	Primary B cells from cord blood	blood
30	chr8:10261400-10261800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:10261400-10268600	Weak transcription	Brain Anterior Caudate	brain
32	chr8:10261600-10261800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:10261600-10261800	Enhancers	Lung	lung
34	chr8:10261600-10262800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:10261600-10262800	Enhancers	HSMM	muscle
36	chr8:10261800-10262000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr8:10261800-10262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:10261800-10263200	Weak transcription	Lung	lung
39	chr8:10261800-10274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:10262000-10275200	Weak transcription	Psoas Muscle	Psoas
41	chr8:10262200-10262800	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:10262200-10267200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:10262400-10263000	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:10262400-10263600	Strong transcription	Fetal Intestine Small	intestine
45	chr8:10262400-10266800	Weak transcription	Brain Germinal Matrix	brain
46	chr8:10262800-10263200	Enhancers	Brain Hippocampus Middle	brain
47	chr8:10262800-10268000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:10263000-10263600	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr8:10263000-10263800	Enhancers	Spleen	Spleen
50	chr8:10263000-10265600	Weak transcription	Fetal Intestine Large	intestine

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