Variant report

Variant	nsv609988
Chromosome Location	chr8:6104420-6108034
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	chr8:6106618..6108795-chr8:6113891..6116770,2	K562	blood:

Variant related genes	Relation type
ENSG00000253880	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551708197	chr8:6104423-6104424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565129386	chr8:6104452-6104453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531072554	chr8:6104484-6104485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17465994	chr8:6104491-6104492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147247743	chr8:6104495-6104496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536419684	chr8:6104519-6104520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117183827	chr8:6104533-6104534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116299063	chr8:6104535-6104536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538961583	chr8:6104548-6104549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557776286	chr8:6104552-6104553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541941766	chr8:6104602-6104603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6559126	chr8:6104612-6104613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs537178816	chr8:6104637-6104638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6559127	chr8:6104638-6104639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs573899028	chr8:6104645-6104646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542806405	chr8:6104650-6104651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183420933	chr8:6104662-6104663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114711133	chr8:6104670-6104671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544962804	chr8:6104680-6104681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79710017	chr8:6104689-6104690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544507662	chr8:6104691-6104692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530788177	chr8:6104703-6104704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140753719	chr8:6104704-6104705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144513236	chr8:6104707-6104708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546740565	chr8:6104709-6104710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566943444	chr8:6104710-6104711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539355138	chr8:6104718-6104719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4997125	chr8:6104733-6104734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147438407	chr8:6104762-6104763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537012468	chr8:6104767-6104768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74580970	chr8:6104768-6104769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573733972	chr8:6104780-6104781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4997126	chr8:6104781-6104782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs188465265	chr8:6104805-6104806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139138050	chr8:6104835-6104836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575224575	chr8:6104853-6104854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4997127	chr8:6104854-6104855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs558541358	chr8:6104864-6104865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73522004	chr8:6104875-6104876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544158438	chr8:6104877-6104878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4997128	chr8:6104902-6104903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529848399	chr8:6104915-6104916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190526432	chr8:6104952-6104953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149934420	chr8:6104953-6104954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111572011	chr8:6104961-6104962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183107192	chr8:6104969-6104970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13273029	chr8:6104977-6104978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78236303	chr8:6104989-6104990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149059506	chr8:6104993-6104994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567259541	chr8:6105022-6105023	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6104000-6105600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:6104000-6106000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:6104400-6107400	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:6104800-6105200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:6105000-6107400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:6105200-6105600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:6105600-6106400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:6106000-6106400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:6106400-6111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:6106400-6111200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:6107000-6107200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:6107400-6110200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:6107400-6110600	Weak transcription	Primary hematopoietic stem cells	blood

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