Variant report

Variant	nsv1022847
Chromosome Location	chr6:70300521-70337899
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	BCLAF1	chr6:70319887-70320408	K562	blood:	n/a	n/a
2	CEBPB	chr6:70334847-70335229	MCF-7	breast:	n/a	chr6:70335020-70335031
3	CEBPB	chr6:70316187-70316540	HepG2	liver:	n/a	chr6:70316348-70316359
4	CEBPB	chr6:70337564-70337855	K562	blood:	n/a	chr6:70337707-70337718 chr6:70337709-70337720 chr6:70337707-70337720
5	CEBPB	chr6:70334832-70335293	K562	blood:	n/a	chr6:70335020-70335031
6	CEBPB	chr6:70334835-70335212	K562	blood:	n/a	chr6:70335020-70335031
7	CEBPB	chr6:70335770-70335789	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr6:70334902-70335244	A549	lung:	n/a	chr6:70335020-70335031
9	CEBPB	chr6:70334947-70335089	K562	blood:	n/a	chr6:70335020-70335031
10	CEBPB	chr6:70334845-70335247	ECC-1	luminal epithelium:	n/a	chr6:70335020-70335031
11	CEBPB	chr6:70316175-70316541	IMR90	lung:	n/a	chr6:70316348-70316359
12	CEBPB	chr6:70332201-70332401	K562	blood:	n/a	n/a
13	CEBPB	chr6:70334841-70335226	ECC-1	luminal epithelium:	n/a	chr6:70335020-70335031
14	CEBPB	chr6:70334834-70335407	Hela-S3	cervix:	n/a	chr6:70335020-70335031
15	CEBPB	chr6:70316287-70316504	K562	blood:	n/a	chr6:70316348-70316359
16	CEBPB	chr6:70316203-70316395	A549	lung:	n/a	chr6:70316348-70316359
17	CEBPB	chr6:70334843-70335211	H1-hESC	embryonic stem cell:	n/a	chr6:70335020-70335031
18	CEBPB	chr6:70337584-70337821	A549	lung:	n/a	chr6:70337707-70337718 chr6:70337709-70337720 chr6:70337707-70337720
19	CEBPB	chr6:70334845-70335215	HepG2	liver:	n/a	chr6:70335020-70335031
20	CEBPB	chr6:70337548-70337881	IMR90	lung:	n/a	chr6:70337707-70337718 chr6:70337709-70337720 chr6:70337707-70337720
21	CEBPB	chr6:70334843-70335216	A549	lung:	n/a	chr6:70335020-70335031
22	CEBPB	chr6:70334829-70335322	A549	lung:	n/a	chr6:70335020-70335031
23	CEBPB	chr6:70325757-70325985	HepG2	liver:	n/a	n/a
24	CEBPB	chr6:70334825-70335167	MCF-7	breast:	n/a	chr6:70335020-70335031
25	CEBPB	chr6:70337572-70337827	H1-hESC	embryonic stem cell:	n/a	chr6:70337707-70337718 chr6:70337709-70337720 chr6:70337707-70337720
26	CEBPB	chr6:70337531-70337873	HepG2	liver:	n/a	chr6:70337707-70337718 chr6:70337709-70337720 chr6:70337707-70337720
27	CHD2	chr6:70320381-70320662	K562	blood:	n/a	n/a
28	CTCF	chr6:70332940-70333090	GM12864	blood:	n/a	n/a
29	CTCF	chr6:70305139-70305213	GM20000	blood:	n/a	n/a
30	CTCF	chr6:70302489-70302507	GM13976	blood:	n/a	n/a
31	CTCF	chr6:70332830-70333030	K562	blood:	n/a	n/a
32	CTCF	chr6:70332960-70333110	GM12864	blood:	n/a	n/a
33	CTCF	chr6:70332920-70333070	HEK293	kidney:	n/a	n/a
34	CTCF	chr6:70332958-70333065	GM19238	blood:	n/a	n/a
35	CTCF	chr6:70332836-70333136	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr6:70332880-70333030	GM12868	blood:	n/a	n/a
37	CTCF	chr6:70327560-70327710	GM12865	blood:	n/a	n/a
38	CTCF	chr6:70332940-70333090	Caco-2	colon:	n/a	n/a
39	CTCF	chr6:70333150-70333207	GM20000	blood:	n/a	n/a
40	CTCF	chr6:70327320-70327470	BE2_C	brain:	n/a	n/a
41	CTCF	chr6:70332740-70332890	BE2_C	brain:	n/a	n/a
42	CTCF	chr6:70332840-70332990	BE2_C	brain:	n/a	n/a
43	CTCF	chr6:70332956-70333061	K562	blood:	n/a	n/a
44	CTCF	chr6:70327520-70327670	HEK293	kidney:	n/a	n/a
45	CTCF	chr6:70332992-70333037	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr6:70332952-70333061	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr6:70327680-70327830	GM12872	blood:	n/a	n/a
48	CTCF	chr6:70332962-70333046	GM19239	blood:	n/a	n/a
49	CTCF	chr6:70332859-70333162	GM12878	blood:	n/a	n/a
50	CTCF	chr6:70332846-70333129	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:70310627..70312778-chr6:70312817..70314803,2	MCF-7	breast:
2	chr6:70318773..70320387-chr6:70325810..70327423,2	K562	blood:
3	chr6:70307524..70310323-chr6:70316680..70319605,2	K562	blood:
4	chr6:70303397..70305645-chr6:119215316..119216878,2	MCF-7	breast:
5	chr6:70316394..70318791-chr6:70322696..70325055,2	K562	blood:
6	chr14:80828865..80829721-chr6:70321743..70322606,2	MCF-7	breast:
7	chr6:70317291..70319807-chr6:70323289..70325055,2	K562	blood:
8	chr6:70316394..70318791-chr6:70322696..70325055,2	K562	blood:
9	chr6:70335202..70336820-chr6:70342123..70344117,2	MCF-7	breast:
10	chr6:70310627..70312778-chr6:70312817..70314803,2	MCF-7	breast:
11	chr6:70320140..70323088-chr6:70342951..70345928,2	MCF-7	breast:
12	chr6:70307524..70310323-chr6:70316680..70319605,2	K562	blood:
13	chr6:70332709..70334763-chr6:70339641..70341898,2	MCF-7	breast:
14	chr6:70317291..70319807-chr6:70323289..70325055,2	K562	blood:
15	chr6:70318773..70320387-chr6:70325810..70327423,2	K562	blood:
16	chr6:70318527..70321655-chr6:70329910..70332211,3	K562	blood:

Variant related genes	Relation type
ENSG00000265362	TF binding region
ENSG00000111877	chromatin interactions
ENSG00000265362	chromatin interactions
ENSG00000111875	chromatin interactions

Extended variants
information (count: 1026 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186801765	chr6:70302406-70302407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549261105	chr6:70302407-70302408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117678500	chr6:70302412-70302413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192437632	chr6:70302465-70302466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367545329	chr6:70302491-70302492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148842861	chr6:70302513-70302514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143498797	chr6:70302529-70302530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553968768	chr6:70302588-70302589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560084499	chr6:70302631-70302632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148031995	chr6:70302665-70302666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536577718	chr6:70302738-70302739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533693691	chr6:70302749-70302750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556483418	chr6:70302806-70302807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185816341	chr6:70302874-70302875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563886213	chr6:70302901-70302902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544963065	chr6:70302910-70302911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564836711	chr6:70302915-70302916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572068666	chr6:70302920-70302921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142612916	chr6:70302946-70302947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189843545	chr6:70302956-70302957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114640886	chr6:70303000-70303001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573836978	chr6:70303005-70303006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144861395	chr6:70303021-70303022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12190396	chr6:70303058-70303059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531628256	chr6:70303065-70303066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551706739	chr6:70303077-70303078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12190402	chr6:70303093-70303094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527833308	chr6:70303112-70303113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138777862	chr6:70303113-70303114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528469357	chr6:70303122-70303123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547020045	chr6:70303138-70303139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565619352	chr6:70303188-70303189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567504819	chr6:70303210-70303211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182056594	chr6:70303212-70303213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141870591	chr6:70303234-70303235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184550529	chr6:70303241-70303242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539384987	chr6:70303324-70303325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569886273	chr6:70303364-70303365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189819718	chr6:70303372-70303373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35657501	chr6:70303416-70303417	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558565589	chr6:70303435-70303436	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571940390	chr6:70303551-70303552	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540752327	chr6:70303590-70303591	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10945183	chr6:70303595-70303596	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146294579	chr6:70303617-70303618	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542782823	chr6:70303660-70303661	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562738572	chr6:70303668-70303669	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531990897	chr6:70303744-70303745	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs139256364	chr6:70303753-70303754	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs78850752	chr6:70303768-70303769	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70302400-70303400	Enhancers	HSMMtube	muscle
2	chr6:70302800-70304200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:70302800-70304600	Enhancers	HSMM	muscle
4	chr6:70306000-70306400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:70306200-70306600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:70306600-70310200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:70310200-70312600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:70310400-70310800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:70310800-70311200	Active TSS	Brain Anterior Caudate	brain
10	chr6:70310800-70311200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:70310800-70311400	Active TSS	Brain Angular Gyrus	brain
12	chr6:70310800-70311400	Active TSS	Brain Substantia Nigra	brain
13	chr6:70310800-70311400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr6:70310800-70311400	Active TSS	Hela-S3	cervix
15	chr6:70311000-70311400	Active TSS	Brain Cingulate Gyrus	brain
16	chr6:70311000-70311400	Active TSS	Brain Hippocampus Middle	brain
17	chr6:70311000-70311400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:70311000-70311400	Bivalent Enhancer	HepG2	liver
19	chr6:70311000-70311800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:70311200-70311600	Enhancers	Brain Anterior Caudate	brain
21	chr6:70311400-70314200	Weak transcription	Brain Substantia Nigra	brain
22	chr6:70312600-70314200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:70314200-70314400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:70325800-70326400	Enhancers	HepG2	liver
25	chr6:70329000-70329400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:70329400-70341400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:70330200-70331000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:70331000-70332000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:70331400-70333000	Enhancers	K562	blood
30	chr6:70332000-70332200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:70332000-70334000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:70332200-70333000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:70332600-70333800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:70332800-70333200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:70333800-70341000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:70334000-70335200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:70335200-70335400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:70335200-70335600	Enhancers	Placenta	Placenta
39	chr6:70335400-70335600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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