Variant report

Variant	esv3418001
Chromosome Location	chr8:107801170-107806191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs142305839	chr8:107801173-107801174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367846680	chr8:107801217-107801218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2930479	chr8:107801220-107801221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185453613	chr8:107801278-107801279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567307596	chr8:107801344-107801345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558228996	chr8:107801355-107801356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146124979	chr8:107801356-107801357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536868999	chr8:107801369-107801370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189972291	chr8:107801370-107801371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368296572	chr8:107801398-107801399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181505206	chr8:107801399-107801400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541299695	chr8:107801452-107801453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138692396	chr8:107801473-107801474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185638393	chr8:107801484-107801485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374230132	chr8:107801521-107801522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375153926	chr8:107801535-107801536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544923868	chr8:107801543-107801544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190099738	chr8:107801609-107801610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530473391	chr8:107801616-107801617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114861051	chr8:107801633-107801634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142698101	chr8:107801675-107801676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528108178	chr8:107801677-107801678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180940030	chr8:107801682-107801683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369486427	chr8:107801701-107801702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185120615	chr8:107801702-107801703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540013554	chr8:107801723-107801724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532396350	chr8:107801729-107801730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146919812	chr8:107801739-107801740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570234217	chr8:107801751-107801752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372472940	chr8:107801757-107801758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555914322	chr8:107801782-107801783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35408782	chr8:107801784-107801785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574069135	chr8:107801788-107801789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377726433	chr8:107801794-107801795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192322572	chr8:107801848-107801849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183872486	chr8:107801871-107801872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545288904	chr8:107801874-107801875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563308079	chr8:107801909-107801910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188779825	chr8:107801931-107801932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542297670	chr8:107801932-107801933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200708780	chr8:107801949-107801950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2930480	chr8:107801975-107801976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs397891738	chr8:107801986-107801987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138710696	chr8:107801987-107801988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546229022	chr8:107802052-107802053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564905515	chr8:107802090-107802091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535141081	chr8:107802091-107802092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371219252	chr8:107802096-107802097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191529141	chr8:107802182-107802183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552073744	chr8:107802223-107802224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
small cell lung cancer	20016488	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107792200-107803600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:107803800-107806400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:107805000-107806600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:107806000-107807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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