Variant report

Variant	nsv982097
Chromosome Location	chr8:35161434-35165858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531925940	chr8:35161456-35161457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139275570	chr8:35161483-35161484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116820743	chr8:35161498-35161499	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558076959	chr8:35161502-35161503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182066652	chr8:35161512-35161513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547575744	chr8:35161524-35161525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565844084	chr8:35161532-35161533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536703616	chr8:35161630-35161631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554688153	chr8:35161716-35161717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570000230	chr8:35161736-35161737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186660783	chr8:35161755-35161756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556528422	chr8:35161797-35161798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577998333	chr8:35161848-35161849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2950892	chr8:35161875-35161876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs577733766	chr8:35161906-35161907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370001860	chr8:35161955-35161956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572065207	chr8:35161978-35161979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149983330	chr8:35162025-35162026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145151198	chr8:35162026-35162027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2950893	chr8:35162040-35162041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1950042	chr8:35162062-35162063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542683991	chr8:35162064-35162065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374685618	chr8:35162074-35162075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562726202	chr8:35162079-35162080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543047226	chr8:35162102-35162103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565276391	chr8:35162106-35162107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530035800	chr8:35162160-35162161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541809333	chr8:35162171-35162172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532625653	chr8:35162185-35162186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192373172	chr8:35162196-35162197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565907477	chr8:35162206-35162207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530152294	chr8:35162222-35162223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548698566	chr8:35162225-35162226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554587672	chr8:35162250-35162251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570031108	chr8:35162295-35162296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573000559	chr8:35162338-35162339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560173000	chr8:35162378-35162379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79101375	chr8:35162385-35162386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571577179	chr8:35162400-35162401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183935029	chr8:35162402-35162403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367688395	chr8:35162426-35162427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540299418	chr8:35162429-35162430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559709542	chr8:35162452-35162453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148800331	chr8:35162512-35162513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188609124	chr8:35162517-35162518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368953447	chr8:35162534-35162535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554693626	chr8:35162537-35162538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4739399	chr8:35162563-35162564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543021905	chr8:35162574-35162575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144894211	chr8:35162582-35162583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35155800-35166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:35159200-35162200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:35159200-35178200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:35159800-35161800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:35160400-35161800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:35160800-35161800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:35160800-35162000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:35160800-35162600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:35161000-35161600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:35161000-35161600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:35161000-35162000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:35161000-35162200	Enhancers	Fetal Kidney	kidney
13	chr8:35161200-35161600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr8:35161400-35161600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:35161400-35166800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:35161600-35162800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:35161600-35163000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:35161600-35164600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:35162000-35162800	Enhancers	Fetal Brain Male	brain
20	chr8:35162000-35178000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:35162000-35178600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:35162600-35164800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:35162800-35167000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:35162800-35168400	Weak transcription	Fetal Brain Male	brain
25	chr8:35164600-35165200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr8:35164800-35165000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr8:35165200-35165400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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