Variant report

Variant	nsv890039
Chromosome Location	chr8:6024175-6094406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6079332..6082540-chr8:6084426..6086508,3	K562	blood:
2	chr8:6079332..6082540-chr8:6084426..6086508,3	K562	blood:
3	chr8:6084910..6087836-chr8:6095267..6098254,2	K562	blood:
4	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
5	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
6	chr8:6080157..6081666-chr8:6091415..6093477,2	MCF-7	breast:
7	chr8:6080157..6081666-chr8:6091415..6093477,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-11	chr8:6082847-6083064	NONHSAT124769

No data

Extended variants
information (count: 1386 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:1386 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs890032	chr8:6024175-6024176	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140221764	chr8:6024184-6024185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571696810	chr8:6024196-6024197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370304068	chr8:6028211-6028212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200884943	chr8:6028212-6028213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560890096	chr8:6028224-6028225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144946241	chr8:6028230-6028231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550998451	chr8:6028243-6028244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570928908	chr8:6028303-6028304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190515105	chr8:6028313-6028314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564898604	chr8:6028336-6028337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527672694	chr8:6028340-6028341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562035472	chr8:6028344-6028345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201252515	chr8:6028358-6028359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567082239	chr8:6028385-6028386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78866948	chr8:6028386-6028387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552988831	chr8:6028412-6028413	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566786074	chr8:6028418-6028419	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs551246022	chr8:6028485-6028486	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181996462	chr8:6028507-6028508	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575728362	chr8:6028544-6028545	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs74715850	chr8:6028569-6028570	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144186371	chr8:6028585-6028586	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574922950	chr8:6028605-6028606	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540853375	chr8:6028619-6028620	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560611245	chr8:6028621-6028622	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142609940	chr8:6028626-6028627	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183598453	chr8:6028632-6028633	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564495361	chr8:6028660-6028661	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs80233988	chr8:6028674-6028675	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550252044	chr8:6028708-6028709	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567401755	chr8:6028734-6028735	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201978562	chr8:6028745-6028746	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188350034	chr8:6028768-6028769	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546807742	chr8:6028798-6028799	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575012067	chr8:6028802-6028803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111335601	chr8:6028821-6028822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538896466	chr8:6028826-6028827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558892025	chr8:6028843-6028844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568979288	chr8:6028844-6028845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538281073	chr8:6028859-6028860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555081370	chr8:6028888-6028889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2552270	chr8:6028906-6028907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151289442	chr8:6028912-6028913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554317333	chr8:6028926-6028927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180861637	chr8:6028943-6028944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186342160	chr8:6028951-6028952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191247049	chr8:6028985-6028986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181702521	chr8:6028991-6028992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139292574	chr8:6032463-6032464	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6023800-6024200	Active TSS	Gastric	stomach
2	chr8:6028200-6028400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:6028400-6028800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:6028800-6029000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:6032400-6032800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:6037400-6038600	Enhancers	NHDF-Ad	bronchial
7	chr8:6037400-6039000	Enhancers	Hela-S3	cervix
8	chr8:6037800-6038200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:6037800-6038600	Enhancers	Osteobl	bone
10	chr8:6037800-6038800	Enhancers	NH-A	brain
11	chr8:6038400-6039000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:6041200-6042600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:6041400-6042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:6054800-6055200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:6065400-6065800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:6065400-6066200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:6065400-6067000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:6069000-6070600	Weak transcription	Right Atrium	heart
19	chr8:6069600-6072800	Enhancers	Fetal Brain Male	brain
20	chr8:6070000-6071400	Enhancers	Fetal Brain Female	brain
21	chr8:6070400-6070600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:6070400-6070600	Bivalent Enhancer	Hela-S3	cervix
23	chr8:6070600-6070800	Enhancers	Right Atrium	heart
24	chr8:6070600-6071200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:6071400-6071800	Weak transcription	Fetal Brain Female	brain
26	chr8:6071800-6072200	Enhancers	Fetal Brain Female	brain
27	chr8:6080800-6081800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:6080800-6082000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:6081400-6087800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:6081800-6082800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:6082000-6082400	Enhancers	Fetal Brain Male	brain
32	chr8:6082400-6084600	Weak transcription	Fetal Brain Male	brain
33	chr8:6084600-6087200	Enhancers	Fetal Brain Male	brain
34	chr8:6086800-6087800	Enhancers	Pancreas	Pancrea
35	chr8:6087000-6087800	Enhancers	Esophagus	oesophagus
36	chr8:6087000-6088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:6087000-6089000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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