Variant report

Variant	nsv1024928
Chromosome Location	chr8:6083297-6105092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 545 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75960905	chr8:6083300-6083301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77099590	chr8:6083332-6083333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546592085	chr8:6083353-6083354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143826149	chr8:6083361-6083362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182802743	chr8:6083367-6083368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188319306	chr8:6083401-6083402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568969772	chr8:6083422-6083423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7813895	chr8:6083425-6083426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138301072	chr8:6083444-6083445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373668391	chr8:6083445-6083446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538131195	chr8:6083449-6083450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192843913	chr8:6083464-6083465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61257594	chr8:6083471-6083472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139531493	chr8:6083472-6083473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370794738	chr8:6083483-6083484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570822059	chr8:6083487-6083488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574684132	chr8:6083488-6083489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183770963	chr8:6083503-6083504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554157886	chr8:6083506-6083507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187693862	chr8:6083519-6083520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192677729	chr8:6083520-6083521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183619921	chr8:6083549-6083550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7814051	chr8:6083550-6083551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562010745	chr8:6083574-6083575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528012559	chr8:6083581-6083582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367711828	chr8:6083593-6083594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557875775	chr8:6083603-6083604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577944663	chr8:6083604-6083605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560130749	chr8:6083613-6083614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532101355	chr8:6083634-6083635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187971690	chr8:6083656-6083657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552345863	chr8:6083690-6083691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377122687	chr8:6083692-6083693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537996207	chr8:6083701-6083702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548418059	chr8:6083723-6083724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149975894	chr8:6083734-6083735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573940227	chr8:6083736-6083737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191324438	chr8:6083743-6083744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184614482	chr8:6083744-6083745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189937330	chr8:6083745-6083746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113196153	chr8:6083747-6083748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7814377	chr8:6083755-6083756	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113488401	chr8:6083761-6083762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373190105	chr8:6083766-6083767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7814388	chr8:6083786-6083787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117214620	chr8:6083793-6083794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113916542	chr8:6083802-6083803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4840385	chr8:6083824-6083825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs202092401	chr8:6083825-6083826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532082607	chr8:6083860-6083861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6081400-6087800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:6082400-6084600	Weak transcription	Fetal Brain Male	brain
3	chr8:6084600-6087200	Enhancers	Fetal Brain Male	brain
4	chr8:6086800-6087800	Enhancers	Pancreas	Pancrea
5	chr8:6087000-6087800	Enhancers	Esophagus	oesophagus
6	chr8:6087000-6088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:6087000-6089000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:6100200-6100600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:6104000-6105600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6104000-6106000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:6104400-6107400	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:6104800-6105200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:6105000-6107400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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