Variant report

Variant	nsv609991
Chromosome Location	chr8:6119926-6131269
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	BATF	chr8:6125905-6126127	GM12878	blood:	n/a	n/a
2	CEBPB	chr8:6128430-6128600	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:6128437-6128476	K562	blood:	n/a	n/a
4	CEBPB	chr8:6128333-6128520	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:6126841-6126881	GM13976	blood:	n/a	n/a
6	CTCF	chr8:6128364-6128443	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXP2	chr8:6119300-6119929	SK-N-MC	brain:	n/a	n/a
8	MAFF	chr8:6130086-6130388	K562	blood:	n/a	chr8:6130207-6130225
9	MAFF	chr8:6130009-6130401	HepG2	liver:	n/a	chr8:6130207-6130225
10	MAFK	chr8:6130046-6130392	HepG2	liver:	n/a	chr8:6130209-6130220 chr8:6130209-6130224 chr8:6130209-6130225 chr8:6130210-6130221 chr8:6130208-6130222 chr8:6130209-6130220
11	MAFK	chr8:6130038-6130392	IMR90	lung:	n/a	chr8:6130209-6130220 chr8:6130209-6130224 chr8:6130209-6130225 chr8:6130210-6130221 chr8:6130208-6130222 chr8:6130209-6130220
12	MAFK	chr8:6130049-6130397	HepG2	liver:	n/a	chr8:6130209-6130220 chr8:6130209-6130224 chr8:6130209-6130225 chr8:6130210-6130221 chr8:6130208-6130222 chr8:6130209-6130220
13	MYC	chr8:6129378-6129403	H1-hESC	embryonic stem cell:	n/a	n/a
14	NFYA	chr8:6125626-6125690	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:6129147-6129330	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:6119093-6120785	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr8:6124909-6124994	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:6123150-6123690	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr8:6120188-6120277	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:6113437-6121012	SK-N-MC	brain:	n/a	n/a
21	RUNX3	chr8:6125861-6126227	GM12878	blood:	n/a	chr8:6126049-6126058 chr8:6126049-6126058
22	RUNX3	chr8:6125864-6126254	GM12878	blood:	n/a	chr8:6126049-6126058 chr8:6126049-6126058
23	SETDB1	chr8:6125725-6125985	U2OS	brain:	n/a	n/a
24	STAT3	chr8:6120408-6120534	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr8:6120779-6120789	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6117190..6120021-chr8:6122326..6123985,2	K562	blood:
2	chr8:6117190..6120021-chr8:6122326..6123985,2	K562	blood:

Variant related genes	Relation type
ENSG00000253880	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17381669	chr8:6119926-6119927	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572244846	chr8:6119937-6119938	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546219121	chr8:6119945-6119946	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563002328	chr8:6119946-6119947	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73192607	chr8:6119973-6119974	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548517107	chr8:6119992-6119993	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544558477	chr8:6119995-6119996	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562273136	chr8:6120077-6120078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34265833	chr8:6120078-6120079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371088131	chr8:6120084-6120085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17381683	chr8:6120093-6120094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574456965	chr8:6120109-6120110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570805534	chr8:6120121-6120122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115806479	chr8:6120139-6120140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551739652	chr8:6120148-6120149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543455109	chr8:6120156-6120157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73504040	chr8:6120190-6120191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs367900585	chr8:6120197-6120198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192948159	chr8:6120209-6120210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543373328	chr8:6120211-6120212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368597243	chr8:6120212-6120213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574536556	chr8:6120226-6120227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533850386	chr8:6120238-6120239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554158561	chr8:6120244-6120245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577191392	chr8:6120284-6120285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184829920	chr8:6120285-6120286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556567261	chr8:6120297-6120298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552875634	chr8:6120301-6120302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17466189	chr8:6120307-6120308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528691243	chr8:6120319-6120320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562144978	chr8:6120325-6120326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548367961	chr8:6120365-6120366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527932398	chr8:6120382-6120383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189601410	chr8:6120398-6120399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564475054	chr8:6120401-6120402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149724650	chr8:6120402-6120403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73504043	chr8:6120426-6120427	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145487210	chr8:6120431-6120432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537183918	chr8:6120433-6120434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531317836	chr8:6120436-6120437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548222969	chr8:6120437-6120438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568062719	chr8:6120441-6120442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534037330	chr8:6120487-6120488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148852290	chr8:6120498-6120499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73504044	chr8:6120499-6120500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146422488	chr8:6120513-6120514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576601283	chr8:6120539-6120540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556605453	chr8:6120552-6120553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73504045	chr8:6120599-6120600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375367917	chr8:6120646-6120647	Enhancers Weak transcription	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6119400-6120000	Enhancers	Brain Germinal Matrix	brain
2	chr8:6119400-6120000	Enhancers	Osteobl	bone
3	chr8:6119400-6120200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:6120000-6121000	Weak transcription	Brain Germinal Matrix	brain
5	chr8:6120200-6120800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:6120800-6121200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:6121000-6121200	Enhancers	Brain Germinal Matrix	brain
8	chr8:6122200-6123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:6128200-6128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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