Variant report

Variant	nsv526765
Chromosome Location	chr8:6208089-6248244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
2	chr8:6245309..6247015-chr8:6262084..6263587,2	MCF-7	breast:
3	chr8:6245766..6247303-chr8:6249126..6250864,2	K562	blood:
4	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
5	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:

Extended variants
information (count: 1144 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:1144 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17533237	chr8:6208089-6208090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73661711	chr8:6208109-6208110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558623668	chr8:6208129-6208130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575483033	chr8:6208130-6208131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2916708	chr8:6208138-6208139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs560927437	chr8:6208187-6208188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28476607	chr8:6208226-6208227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145221572	chr8:6208255-6208256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540588358	chr8:6208258-6208259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5889164	chr8:6208291-6208292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35086727	chr8:6208321-6208322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188152342	chr8:6208323-6208324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115614914	chr8:6208324-6208325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552736201	chr8:6208347-6208348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2408278	chr8:6208353-6208354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532027590	chr8:6208362-6208363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548870884	chr8:6208399-6208400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5889165	chr8:6208410-6208411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567285905	chr8:6208427-6208428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559196849	chr8:6208434-6208435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149110046	chr8:6208439-6208440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541705765	chr8:6208465-6208466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566556609	chr8:6208477-6208478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142223830	chr8:6208487-6208488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558698441	chr8:6208522-6208523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575481303	chr8:6208537-6208538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537773640	chr8:6208539-6208540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115182869	chr8:6208540-6208541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574503080	chr8:6208575-6208576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561688064	chr8:6208580-6208581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376713144	chr8:6208593-6208594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551465859	chr8:6208653-6208654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540189720	chr8:6208665-6208666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560429777	chr8:6208678-6208679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192893279	chr8:6208697-6208698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77640828	chr8:6208699-6208700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146710535	chr8:6208714-6208715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184458382	chr8:6208721-6208722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140351558	chr8:6208722-6208723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564166222	chr8:6208761-6208762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562321118	chr8:6208794-6208795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145309840	chr8:6208798-6208799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546563663	chr8:6208803-6208804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566477558	chr8:6208812-6208813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73661712	chr8:6208853-6208854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188846567	chr8:6208854-6208855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137927380	chr8:6208875-6208876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546747905	chr8:6208888-6208889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181949151	chr8:6208910-6208911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566462691	chr8:6208933-6208934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Myelofibrosis	22110671	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
Prostate cancer	17217626	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
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6200000-6216600	Weak transcription	Pancreas	Pancrea
2	chr8:6208200-6208600	Enhancers	Fetal Stomach	stomach
3	chr8:6208600-6209000	Weak transcription	Fetal Stomach	stomach
4	chr8:6209000-6209200	Enhancers	Fetal Stomach	stomach
5	chr8:6209200-6212200	Weak transcription	Fetal Stomach	stomach
6	chr8:6210400-6211000	Enhancers	HepG2	liver
7	chr8:6212200-6212400	Enhancers	Small Intestine	intestine
8	chr8:6212200-6212600	Enhancers	Fetal Brain Female	brain
9	chr8:6212200-6213400	Enhancers	Fetal Stomach	stomach
10	chr8:6212200-6213600	Enhancers	Fetal Muscle Leg	muscle
11	chr8:6212400-6212800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:6212400-6212800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:6212400-6212800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:6212400-6212800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr8:6212400-6212800	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:6212600-6212800	Enhancers	Gastric	stomach
17	chr8:6212800-6216600	Weak transcription	Gastric	stomach
18	chr8:6212800-6218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:6216600-6216800	Active TSS	Gastric	stomach
20	chr8:6216600-6216800	ZNF genes & repeats	Pancreas	Pancrea
21	chr8:6216800-6219800	Weak transcription	Pancreas	Pancrea
22	chr8:6218200-6218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:6218400-6218600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:6218400-6218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:6218400-6219000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:6218400-6219000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr8:6218400-6219200	Active TSS	Duodenum Mucosa	Duodenum
28	chr8:6218400-6219200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:6218400-6219200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:6218400-6219200	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:6218600-6218800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:6218600-6219000	Enhancers	Brain Substantia Nigra	brain
33	chr8:6218600-6219200	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr8:6218600-6219200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:6218600-6219200	Active TSS	Adipose Nuclei	Adipose
36	chr8:6218800-6219200	Active TSS	Primary B cells from peripheral blood	blood
37	chr8:6218800-6219200	Active TSS	Primary hematopoietic stem cells	blood
38	chr8:6218800-6219200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:6218800-6219200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:6218800-6219200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:6218800-6219200	Active TSS	Brain Anterior Caudate	brain
42	chr8:6219000-6219200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:6219200-6219400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:6219200-6219400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:6219800-6220000	ZNF genes & repeats	Pancreas	Pancrea
46	chr8:6220000-6220200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:6220200-6221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:6223600-6224600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:6223800-6224400	Enhancers	HepG2	liver
50	chr8:6231000-6231600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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