Variant report

Variant	nsv517950
Chromosome Location	chr8:34797403-34803940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 259 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17249529	chr8:34797403-34797404	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372353893	chr8:34797408-34797409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182062692	chr8:34797443-34797444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530982608	chr8:34797507-34797508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530976506	chr8:34797512-34797513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138334901	chr8:34797518-34797519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531392115	chr8:34797560-34797561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549522121	chr8:34797620-34797621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545719496	chr8:34797642-34797643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570742693	chr8:34797645-34797646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374563452	chr8:34797721-34797722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146265483	chr8:34797745-34797746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34789860	chr8:34797748-34797749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376128807	chr8:34797749-34797750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67956814	chr8:34797756-34797757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75642511	chr8:34797758-34797759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200756941	chr8:34797761-34797762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534782376	chr8:34797768-34797769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549169287	chr8:34797849-34797850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143356680	chr8:34797878-34797879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7002122	chr8:34797886-34797887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561546299	chr8:34797931-34797932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10105027	chr8:34797942-34797943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535489778	chr8:34797949-34797950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554814151	chr8:34797969-34797970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547683957	chr8:34797993-34797994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576426159	chr8:34798033-34798034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537370957	chr8:34798088-34798089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558771138	chr8:34798113-34798114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577151401	chr8:34798117-34798118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186088491	chr8:34798120-34798121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557905831	chr8:34798137-34798138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4415310	chr8:34798167-34798168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113147621	chr8:34798176-34798177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541479175	chr8:34798198-34798199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371061646	chr8:34798200-34798201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563613448	chr8:34798249-34798250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190756249	chr8:34798258-34798259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532992461	chr8:34798336-34798337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148349769	chr8:34798341-34798342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182609572	chr8:34798394-34798395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373599691	chr8:34798411-34798412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572966985	chr8:34798427-34798428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369676522	chr8:34798433-34798434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568475813	chr8:34798470-34798471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529257551	chr8:34798495-34798496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550677548	chr8:34798538-34798539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569307210	chr8:34798553-34798554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537334255	chr8:34798565-34798566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188115515	chr8:34798594-34798595	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34796800-34797600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:34797200-34802000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:34797400-34798400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:34797400-34802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:34797400-34803800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:34798400-34798800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:34798400-34799000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:34799000-34801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:34801200-34804800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:34801800-34803000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:34801800-34803000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:34801800-34804400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:34802000-34802600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:34802000-34803200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:34802000-34804400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:34802200-34802400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:34802200-34802600	Enhancers	Brain Germinal Matrix	brain
18	chr8:34802200-34803000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:34802400-34804000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:34802600-34803800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:34803000-34804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:34803800-34804400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:34803800-34804600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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