Variant report

Variant	nsv890050
Chromosome Location	chr8:6164560-6209425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:
2	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
3	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
4	chr8:6116111..6116635-chr8:6188825..6189362,2	MCF-7	breast:
5	chr8:6178544..6180648-chr8:6180657..6183263,2	K562	blood:

Extended variants
information (count: 2229 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:2229 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7840430	chr8:6164560-6164561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542878652	chr8:6164565-6164566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139558475	chr8:6164566-6164567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199604617	chr8:6164609-6164610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560974042	chr8:6164610-6164611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142125919	chr8:6164611-6164612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536116911	chr8:6164614-6164615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398112151	chr8:6164621-6164622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527313330	chr8:6164622-6164623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144128531	chr8:6164634-6164635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114056706	chr8:6164643-6164644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368952662	chr8:6164648-6164649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183218959	chr8:6164652-6164653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563446482	chr8:6164653-6164654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146518102	chr8:6164665-6164666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111526362	chr8:6164666-6164667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113214953	chr8:6164684-6164685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67912444	chr8:6164688-6164689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55639701	chr8:6164689-6164690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148017190	chr8:6164768-6164769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201570288	chr8:6164769-6164770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144273950	chr8:6164770-6164771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576854521	chr8:6164772-6164773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199678300	chr8:6164773-6164774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200629726	chr8:6164774-6164775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201943855	chr8:6164776-6164777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537118748	chr8:6164778-6164779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56255802	chr8:6164819-6164820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149061340	chr8:6164820-6164821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557146551	chr8:6164825-6164826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573930969	chr8:6164863-6164864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187613768	chr8:6164864-6164865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192047522	chr8:6164867-6164868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73192688	chr8:6164879-6164880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573471032	chr8:6164905-6164906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546845057	chr8:6164909-6164910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565345406	chr8:6164915-6164916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200723646	chr8:6164922-6164923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113858054	chr8:6164923-6164924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201694047	chr8:6164926-6164927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111589892	chr8:6164927-6164928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56141462	chr8:6164928-6164929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577687680	chr8:6164951-6164952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543511133	chr8:6164957-6164958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563359877	chr8:6164966-6164967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56154965	chr8:6164967-6164968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56349442	chr8:6164973-6164974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55910054	chr8:6164996-6164997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56235624	chr8:6164998-6164999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141824520	chr8:6165013-6165014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6160200-6167400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:6164000-6168800	Weak transcription	Osteobl	bone
3	chr8:6165600-6166000	Enhancers	Spleen	Spleen
4	chr8:6166000-6169000	Weak transcription	Spleen	Spleen
5	chr8:6167400-6167600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:6168400-6169600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:6168800-6169400	Enhancers	Osteobl	bone
8	chr8:6169000-6169200	Enhancers	A549	lung
9	chr8:6169400-6170800	Weak transcription	Osteobl	bone
10	chr8:6170600-6170800	Active TSS	A549	lung
11	chr8:6170800-6171600	Flanking Active TSS	A549	lung
12	chr8:6170800-6171600	Enhancers	Osteobl	bone
13	chr8:6171000-6171400	Bivalent Enhancer	HepG2	liver
14	chr8:6173000-6173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:6173200-6173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:6182200-6182400	Enhancers	Lung	lung
17	chr8:6187800-6189800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:6188000-6188200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:6188000-6189800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:6188200-6189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:6188400-6189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:6188400-6189200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:6188400-6190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:6188600-6188800	Enhancers	Osteobl	bone
25	chr8:6188600-6189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:6188600-6190000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:6188600-6190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:6188800-6189800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:6188800-6191800	Weak transcription	Osteobl	bone
30	chr8:6189000-6189400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:6189000-6189400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:6189200-6189600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr8:6189200-6189600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:6189400-6189600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:6189400-6189800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:6189400-6190000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:6189600-6189800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:6189600-6189800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:6189600-6189800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:6189800-6192400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:6189800-6195200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:6190000-6192000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:6191400-6191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:6191800-6192000	Enhancers	Osteobl	bone
45	chr8:6191800-6192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:6192000-6192200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:6192000-6192800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:6192000-6192800	Flanking Active TSS	Osteobl	bone
49	chr8:6192200-6192400	Flanking Active TSS	A549	lung
50	chr8:6192200-6192600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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