Variant report

Variant	nsv968489
Chromosome Location	chr8:6216158-6222939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:

Extended variants
information (count: 379 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77333115	chr8:6216158-6216159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112556453	chr8:6216161-6216162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371889583	chr8:6216164-6216165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151186829	chr8:6216166-6216167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138687029	chr8:6216167-6216168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73510108	chr8:6216177-6216178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539942434	chr8:6216218-6216219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559810822	chr8:6216226-6216227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148700147	chr8:6216239-6216240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572072582	chr8:6216248-6216249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562830208	chr8:6216254-6216255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542280232	chr8:6216272-6216273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188199257	chr8:6216277-6216278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73510112	chr8:6216279-6216280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560924487	chr8:6216301-6216302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28469044	chr8:6216314-6216315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570940608	chr8:6216315-6216316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540063270	chr8:6216321-6216322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142155275	chr8:6216323-6216324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570197179	chr8:6216337-6216338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150784544	chr8:6216338-6216339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370958132	chr8:6216353-6216354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555978608	chr8:6216387-6216388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191852468	chr8:6216410-6216411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139089244	chr8:6216455-6216456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184741844	chr8:6216470-6216471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10867016	chr8:6216472-6216473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545464965	chr8:6216482-6216483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190021604	chr8:6216490-6216491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531496214	chr8:6216572-6216573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541762814	chr8:6216573-6216574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562015464	chr8:6216629-6216630	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573387063	chr8:6216662-6216663	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547788119	chr8:6216668-6216669	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531541252	chr8:6216669-6216670	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145144191	chr8:6216687-6216688	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533478740	chr8:6216708-6216709	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs147550759	chr8:6216717-6216718	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs6996804	chr8:6216718-6216719	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12680709	chr8:6216720-6216721	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141979937	chr8:6216725-6216726	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145622722	chr8:6216730-6216731	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs145398396	chr8:6216738-6216739	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553374445	chr8:6216743-6216744	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149225423	chr8:6216800-6216801	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2916698	chr8:6216811-6216812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556179654	chr8:6216822-6216823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576206217	chr8:6216852-6216853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541990489	chr8:6216892-6216893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561860407	chr8:6216915-6216916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6200000-6216600	Weak transcription	Pancreas	Pancrea
2	chr8:6212800-6216600	Weak transcription	Gastric	stomach
3	chr8:6212800-6218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:6216600-6216800	Active TSS	Gastric	stomach
5	chr8:6216600-6216800	ZNF genes & repeats	Pancreas	Pancrea
6	chr8:6216800-6219800	Weak transcription	Pancreas	Pancrea
7	chr8:6218200-6218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:6218400-6218600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:6218400-6218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:6218400-6219000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:6218400-6219000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr8:6218400-6219200	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:6218400-6219200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:6218400-6219200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:6218400-6219200	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:6218600-6218800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:6218600-6219000	Enhancers	Brain Substantia Nigra	brain
18	chr8:6218600-6219200	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr8:6218600-6219200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:6218600-6219200	Active TSS	Adipose Nuclei	Adipose
21	chr8:6218800-6219200	Active TSS	Primary B cells from peripheral blood	blood
22	chr8:6218800-6219200	Active TSS	Primary hematopoietic stem cells	blood
23	chr8:6218800-6219200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:6218800-6219200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:6218800-6219200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:6218800-6219200	Active TSS	Brain Anterior Caudate	brain
27	chr8:6219000-6219200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:6219200-6219400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:6219200-6219400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:6219800-6220000	ZNF genes & repeats	Pancreas	Pancrea
31	chr8:6220000-6220200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:6220200-6221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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