Variant report

Variant	nsv516468
Chromosome Location	chr8:6102038-6115359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:6106882-6107194	H1-hESC	embryonic stem cell:	n/a	chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037
2	CEBPB	chr8:6106985-6107104	K562	blood:	n/a	chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037
3	CEBPB	chr8:6106856-6107207	HepG2	liver:	n/a	chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037
4	CEBPB	chr8:6106947-6107139	MCF-7	breast:	n/a	chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037
5	CEBPB	chr8:6106894-6107185	IMR90	lung:	n/a	chr8:6107026-6107037 chr8:6107026-6107039 chr8:6107028-6107039 chr8:6107028-6107037
6	CTCF	chr8:6109067-6109110	LNCaP	prostate:	n/a	n/a
7	E2F4	chr8:6110155-6110491	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr8:6110220-6110441	MCF10A-Er-Src	breast:	n/a	chr8:6110318-6110326
9	FOS	chr8:6110163-6110449	MCF10A-Er-Src	breast:	n/a	chr8:6110318-6110326
10	FOS	chr8:6110157-6110442	MCF10A-Er-Src	breast:	n/a	chr8:6110318-6110326
11	FOXP2	chr8:6110129-6110617	SK-N-MC	brain:	n/a	n/a
12	JUN	chr8:6114609-6114874	HepG2	liver:	n/a	chr8:6114713-6114722 chr8:6114709-6114722
13	JUND	chr8:6114532-6114891	HepG2	liver:	n/a	chr8:6114713-6114722
14	MAX	chr8:6101967-6102149	NB4	blood:	n/a	n/a
15	MYC	chr8:6115076-6115240	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr8:6110151-6110508	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr8:6110154-6110516	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr8:6107023-6107258	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:6103367-6103493	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:6106222-6106687	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr8:6110834-6111364	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr8:6113904-6115385	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr8:6113437-6121012	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr8:6111749-6112558	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr8:6104372-6104926	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr8:6109932-6110798	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr8:6109925-6112586	SK-N-MC	brain:	n/a	n/a
28	STAT3	chr8:6109037-6109117	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr8:6106263-6106283	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr8:6110222-6110461	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6106618..6108795-chr8:6113891..6116770,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-3	chr8:6114933-6115058	ENSG00000253880

Variant related genes	Relation type
ENSG00000253880	TF binding region
ENSG00000253880	chromatin interactions

Extended variants
information (count: 944 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138963493	chr8:6104018-6104019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186466402	chr8:6104025-6104026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189719439	chr8:6104032-6104033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6995691	chr8:6104057-6104058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542909519	chr8:6104077-6104078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6982565	chr8:6104080-6104081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571691968	chr8:6104102-6104103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540794694	chr8:6104119-6104120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6559122	chr8:6104157-6104158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73520095	chr8:6104170-6104171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543559143	chr8:6104174-6104175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76494875	chr8:6104178-6104179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529245739	chr8:6104179-6104180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549283208	chr8:6104198-6104199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180951821	chr8:6104200-6104201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528462208	chr8:6104215-6104216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551602007	chr8:6104221-6104222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144724915	chr8:6104240-6104241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186286106	chr8:6104246-6104247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557576744	chr8:6104267-6104268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567508950	chr8:6104269-6104270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191579626	chr8:6104271-6104272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6559123	chr8:6104273-6104274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571729436	chr8:6104274-6104275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566648178	chr8:6104293-6104294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376846470	chr8:6104314-6104315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386721726	chr8:6104315-6104316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76361837	chr8:6104317-6104318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10092383	chr8:6104318-6104319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145225541	chr8:6104319-6104320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559167311	chr8:6104320-6104321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543144212	chr8:6104332-6104333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377083536	chr8:6104335-6104336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563509837	chr8:6104338-6104339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148118077	chr8:6104350-6104351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6559124	chr8:6104388-6104389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569278131	chr8:6104412-6104413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141825897	chr8:6104413-6104414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6559125	chr8:6104415-6104416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs551708197	chr8:6104423-6104424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565129386	chr8:6104452-6104453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531072554	chr8:6104484-6104485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17465994	chr8:6104491-6104492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147247743	chr8:6104495-6104496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536419684	chr8:6104519-6104520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117183827	chr8:6104533-6104534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116299063	chr8:6104535-6104536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538961583	chr8:6104548-6104549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557776286	chr8:6104552-6104553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541941766	chr8:6104602-6104603	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:26 , 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
14	chr8:6110200-6110600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:6110600-6111000	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:6110600-6111800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:6111000-6112400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:6111200-6112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:6111200-6112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:6111800-6112800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:6112200-6112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:6112200-6112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:6112400-6112600	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:6112800-6114800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:6114800-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:6114800-6115200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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