Variant report

Variant	nsv824449
Chromosome Location	chr8:1241920-1242403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541871593	chr8:1242013-1242014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561840051	chr8:1242016-1242017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6558438	chr8:1242042-1242043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187625647	chr8:1242046-1242047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28666422	chr8:1242051-1242052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533643631	chr8:1242075-1242076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199678900	chr8:1242082-1242083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201536968	chr8:1242088-1242089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111577623	chr8:1242094-1242095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34485658	chr8:1242095-1242096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10625089	chr8:1242097-1242098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202114023	chr8:1242098-1242099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546988160	chr8:1242174-1242175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560145196	chr8:1242206-1242207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73670714	chr8:1242207-1242208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371730071	chr8:1242220-1242221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541384829	chr8:1242221-1242222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568957095	chr8:1242258-1242259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374462646	chr8:1242270-1242271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78305826	chr8:1242305-1242306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4876022	chr8:1242316-1242317	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571367421	chr8:1242320-1242321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386720601	chr8:1242322-1242323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6558439	chr8:1242324-1242325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4876023	chr8:1242348-1242349	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530955322	chr8:1242379-1242380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535443842	chr8:1242387-1242388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555372678	chr8:1242390-1242391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149833902	chr8:1242400-1242401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1223800-1242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:1237600-1242600	Weak transcription	Fetal Brain Male	brain
3	chr8:1240400-1242800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:1241000-1242400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1241400-1242400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:1241400-1242400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:1241400-1242400	Enhancers	Brain Germinal Matrix	brain
8	chr8:1241600-1243400	Weak transcription	Fetal Brain Female	brain
9	chr8:1241800-1242200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:1241800-1242200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:1241800-1242400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:1242200-1242400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:1242200-1242600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:1242400-1243400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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