Variant report

Variant	nsv890033
Chromosome Location	chr8:5926632-6032731
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:132324298..132325038-chr8:6023084..6023812,2	MCF-7	breast:
2	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
3	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
4	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
5	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
6	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
7	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
8	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
9	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
10	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
11	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
12	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:5957850-5957973	ENSG00000253880

No data

Extended variants
information (count: 4593 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:4593 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376682218	chr8:5929809-5929810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541719845	chr8:5929840-5929841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562021562	chr8:5929865-5929866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139054547	chr8:5929886-5929887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181311176	chr8:5929895-5929896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564165790	chr8:5929935-5929936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201304942	chr8:5929936-5929937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17075940	chr8:5929952-5929953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs186857451	chr8:5930018-5930019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372533428	chr8:5930019-5930020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569873078	chr8:5930040-5930041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536048839	chr8:5930046-5930047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191651603	chr8:5930052-5930053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559918887	chr8:5930053-5930054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143992726	chr8:5930069-5930070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553375572	chr8:5930084-5930085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145840270	chr8:5930097-5930098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375504095	chr8:5930103-5930104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553781103	chr8:5930112-5930113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570485246	chr8:5930134-5930135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369572031	chr8:5930135-5930136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149005764	chr8:5930140-5930141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556304194	chr8:5930147-5930148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576112047	chr8:5930161-5930162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561729197	chr8:5930171-5930172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142995873	chr8:5930178-5930179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555316727	chr8:5930180-5930181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77513489	chr8:5930193-5930194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540946495	chr8:5930202-5930203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541820569	chr8:5930237-5930238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564102811	chr8:5930295-5930296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533161752	chr8:5930302-5930303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561702637	chr8:5930308-5930309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10109415	chr8:5930326-5930327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs368686007	chr8:5930331-5930332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544268391	chr8:5930337-5930338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151085378	chr8:5930350-5930351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75969487	chr8:5930351-5930352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145462933	chr8:5930364-5930365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528767500	chr8:5930366-5930367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532190563	chr8:5930368-5930369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552119663	chr8:5930384-5930385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570422798	chr8:5930404-5930405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539445387	chr8:5930425-5930426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556243046	chr8:5930428-5930429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569726426	chr8:5930453-5930454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552481583	chr8:5930462-5930463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113192026	chr8:5930471-5930472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58979728	chr8:5930483-5930484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555507477	chr8:5930484-5930485	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5929800-5930800	Enhancers	Fetal Heart	heart
2	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
3	chr8:5931400-5932600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:5932000-5932400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:5932000-5932400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
8	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
10	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
11	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
12	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
13	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:5942800-5943200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:5949000-5949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:5952600-5953000	Enhancers	Fetal Brain Female	brain
18	chr8:5952800-5954400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:5953000-5954000	Weak transcription	Fetal Brain Female	brain
20	chr8:5953400-5954200	Enhancers	Brain Substantia Nigra	brain
21	chr8:5953600-5954000	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:5954000-5954200	Enhancers	Fetal Brain Male	brain
23	chr8:5954200-5954400	Enhancers	Fetal Brain Female	brain
24	chr8:5954200-5955400	Weak transcription	Fetal Brain Male	brain
25	chr8:5962200-5979000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:5973000-5973600	Enhancers	Brain Anterior Caudate	brain
27	chr8:5973000-5973800	Enhancers	Brain Hippocampus Middle	brain
28	chr8:5973000-5974000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:5973200-5973600	Enhancers	Brain Substantia Nigra	brain
30	chr8:5973600-5974200	Weak transcription	Brain Anterior Caudate	brain
31	chr8:5974200-5974400	Enhancers	Brain Anterior Caudate	brain
32	chr8:5979000-5979200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:5979000-5979200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:5979200-5983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:5981400-5981800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:5981400-5981800	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:5981600-5982000	Enhancers	Brain Hippocampus Middle	brain
38	chr8:5981600-5982000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:5981800-5982000	Enhancers	Fetal Stomach	stomach
40	chr8:5982000-5984800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:5983200-5983400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:5983400-5991800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:5984800-5986200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:5984800-5986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:5985000-5985800	Enhancers	NHEK	skin
46	chr8:5985000-5986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:5986600-5990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:5990200-5994400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:5990600-5990800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:5990600-5991200	Enhancers	Fetal Muscle Trunk	muscle

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