Variant report

Variant	nsv428515
Chromosome Location	chr8:34849097-34862729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 511 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116957103	chr8:34849182-34849183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186116699	chr8:34849283-34849284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535440309	chr8:34849363-34849364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377197553	chr8:34849364-34849365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533506756	chr8:34849368-34849369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143890262	chr8:34849404-34849405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540166069	chr8:34849416-34849417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558449142	chr8:34849426-34849427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77686292	chr8:34849457-34849458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117916993	chr8:34849458-34849459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561997520	chr8:34849459-34849460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573834530	chr8:34849512-34849513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544182571	chr8:34849588-34849589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562568747	chr8:34849646-34849647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533175662	chr8:34849647-34849648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552152794	chr8:34849685-34849686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573889008	chr8:34849707-34849708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564414274	chr8:34849736-34849737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528226455	chr8:34849821-34849822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191929965	chr8:34849838-34849839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568153621	chr8:34849839-34849840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529033231	chr8:34849845-34849846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550574349	chr8:34849859-34849860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539472852	chr8:34849885-34849886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539436485	chr8:34849911-34849912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76164505	chr8:34849960-34849961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76345990	chr8:34850029-34850030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111534062	chr8:34850055-34850056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555572015	chr8:34850099-34850100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573773181	chr8:34850112-34850113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374449387	chr8:34850156-34850157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556254394	chr8:34850208-34850209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577573216	chr8:34850233-34850234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182583122	chr8:34850243-34850244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377688651	chr8:34850287-34850288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112992930	chr8:34850291-34850292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528427455	chr8:34850304-34850305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540039891	chr8:34850327-34850328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143749478	chr8:34850394-34850395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117255685	chr8:34850470-34850471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555533916	chr8:34850487-34850488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12546149	chr8:34850521-34850522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186649893	chr8:34850529-34850530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568985592	chr8:34850535-34850536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532747778	chr8:34850554-34850555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545153366	chr8:34850660-34850661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7005848	chr8:34850682-34850683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190760699	chr8:34850705-34850706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11785346	chr8:34850713-34850714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555659915	chr8:34850728-34850729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
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
Seminomas	18059402	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34844400-34853200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:34844400-34857400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:34851000-34852800	Enhancers	HMEC	breast
4	chr8:34851000-34853000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:34851200-34851600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:34851200-34852000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:34851200-34852200	Enhancers	NHEK	skin
8	chr8:34851400-34851800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:34851600-34852000	Enhancers	NH-A	brain
10	chr8:34853000-34864600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:34857000-34863800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:34857200-34857400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:34857200-34858000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:34857200-34858800	Enhancers	Brain Germinal Matrix	brain
15	chr8:34857400-34857800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:34857400-34857800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:34857800-34858800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:34857800-34864000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:34858000-34858600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:34858000-34858800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:34858000-34858800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:34858200-34858600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:34858200-34858600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:34858600-34860600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:34858600-34864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:34858800-34862400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:34858800-34863000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:34858800-34863400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:34860600-34862400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:34861200-34861400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:34861200-34862000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:34861200-34862000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:34861400-34861600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:34861400-34863600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:34861600-34862000	Enhancers	Liver	Liver
36	chr8:34861600-34863600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:34861800-34862000	Enhancers	Pancreas	Pancrea
38	chr8:34862000-34862400	Weak transcription	Liver	Liver
39	chr8:34862000-34862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:34862000-34865400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:34862400-34862600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:34862400-34863000	Enhancers	Liver	Liver
43	chr8:34862400-34871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:34862600-34863000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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