Variant report

Variant	nsv610225
Chromosome Location	chr8:9493701-9499605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9494330..9496133-chr8:9501405..9503698,2	K562	blood:
2	chr8:9485608..9489855-chr8:9491266..9494747,4	K562	blood:
3	chr8:9408610..9410364-chr8:9497260..9500179,3	K562	blood:
4	chr8:9491095..9493822-chr8:9498438..9500490,2	K562	blood:
5	chr8:9408610..9410129-chr8:9497260..9499270,2	K562	blood:
6	chr8:9491095..9493822-chr8:9498438..9500490,2	K562	blood:
7	chr8:9478144..9480144-chr8:9497689..9499942,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11994018	chr8:9493701-9493702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553139873	chr8:9493734-9493735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188775716	chr8:9493758-9493759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12547639	chr8:9493857-9493858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs72038912	chr8:9493899-9493900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377235025	chr8:9493901-9493902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370075298	chr8:9493903-9493904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12547642	chr8:9493927-9493928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530618037	chr8:9493932-9493933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192192177	chr8:9493995-9493996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183862853	chr8:9494020-9494021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535918668	chr8:9494033-9494034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530041807	chr8:9494063-9494064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546546406	chr8:9494065-9494066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188589485	chr8:9494114-9494115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191109016	chr8:9494117-9494118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552346722	chr8:9494124-9494125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138010669	chr8:9494152-9494153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537108358	chr8:9494158-9494159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61457412	chr8:9494165-9494166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13273330	chr8:9494167-9494168	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28635251	chr8:9494180-9494181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183802662	chr8:9494188-9494189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35054885	chr8:9494206-9494207	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538907365	chr8:9494214-9494215	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572303014	chr8:9494232-9494233	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190337306	chr8:9494234-9494235	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149487484	chr8:9494243-9494244	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544298886	chr8:9494249-9494250	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560885462	chr8:9494254-9494255	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574521684	chr8:9494259-9494260	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs117313678	chr8:9494267-9494268	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547865864	chr8:9494281-9494282	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542906800	chr8:9494282-9494283	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182546344	chr8:9494310-9494311	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs532429588	chr8:9494372-9494373	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147158611	chr8:9494387-9494388	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562295857	chr8:9494445-9494446	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530933540	chr8:9494462-9494463	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs550626471	chr8:9494471-9494472	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs28410447	chr8:9494496-9494497	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369521500	chr8:9494532-9494533	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs80254781	chr8:9494581-9494582	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576951662	chr8:9494587-9494588	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186674450	chr8:9494613-9494614	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567090077	chr8:9494642-9494643	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539276791	chr8:9494679-9494680	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs33972793	chr8:9494732-9494733	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35289093	chr8:9494762-9494763	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs76209687	chr8:9494794-9494795	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	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
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9475200-9494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:9485000-9495000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
9	chr8:9485200-9493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:9485600-9498200	Weak transcription	Ovary	ovary
11	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
14	chr8:9486200-9494400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:9486400-9494400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:9486800-9494400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:9487200-9500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:9489600-9494000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:9489600-9494200	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:9491200-9494000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:9491200-9502800	Weak transcription	Aorta	Aorta
25	chr8:9491400-9494200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:9491400-9504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:9491400-9509000	Weak transcription	HSMM	muscle
29	chr8:9492200-9508000	Weak transcription	NH-A	brain
30	chr8:9492400-9495600	Weak transcription	NHDF-Ad	bronchial
31	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:9493400-9495000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:9493600-9493800	Enhancers	Brain Angular Gyrus	brain
34	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:9493800-9494400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:9494000-9494600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:9494000-9494800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr8:9494000-9495000	Enhancers	Brain Substantia Nigra	brain
39	chr8:9494200-9494600	Enhancers	Brain Hippocampus Middle	brain
40	chr8:9494200-9494800	Active TSS	GM12878-XiMat	blood
41	chr8:9494200-9495200	Enhancers	Brain Anterior Caudate	brain
42	chr8:9494400-9494600	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:9494400-9494600	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:9494400-9494600	Enhancers	Fetal Kidney	kidney
45	chr8:9494400-9494600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:9494400-9495200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
49	chr8:9495000-9495200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:9495000-9495400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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