Variant report

Variant	nsv886574
Chromosome Location	chr6:120314863-120409492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:482)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:120326309-120327725	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:120352931-120353297	HepG2	liver:	n/a	n/a
3	BRCA1	chr6:120326609-120327051	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr6:120326508-120326990	HepG2	liver:	n/a	n/a
5	CCNT2	chr6:120317687-120317800	K562	blood:	n/a	n/a
6	CEBPB	chr6:120348662-120348764	A549	lung:	n/a	n/a
7	CEBPB	chr6:120348612-120348869	HepG2	liver:	n/a	n/a
8	CEBPB	chr6:120374222-120374417	HepG2	liver:	n/a	chr6:120374335-120374346
9	CEBPB	chr6:120352944-120353373	HepG2	liver:	n/a	chr6:120353094-120353105
10	CEBPB	chr6:120326393-120327061	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:120331249-120331601	A549	lung:	n/a	chr6:120331429-120331440
12	CEBPB	chr6:120331298-120331555	K562	blood:	n/a	chr6:120331429-120331440
13	CEBPB	chr6:120379598-120379893	HepG2	liver:	n/a	chr6:120379752-120379763
14	CEBPB	chr6:120331244-120331934	HepG2	liver:	n/a	chr6:120331429-120331440
15	CEBPB	chr6:120331256-120331615	ECC-1	luminal epithelium:	n/a	chr6:120331429-120331440
16	CEBPB	chr6:120353107-120353301	HepG2	liver:	n/a	n/a
17	CEBPB	chr6:120323715-120324021	HepG2	liver:	n/a	n/a
18	CEBPB	chr6:120331246-120331597	Hela-S3	cervix:	n/a	chr6:120331429-120331440
19	CEBPB	chr6:120326498-120326653	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:120352932-120353789	HepG2	liver:	n/a	chr6:120353094-120353105
21	CEBPB	chr6:120331248-120331667	IMR90	lung:	n/a	chr6:120331429-120331440
22	CHD2	chr6:120377177-120377576	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr6:120326616-120326992	K562	blood:	n/a	n/a
24	CHD2	chr6:120326379-120327095	HepG2	liver:	n/a	n/a
25	CHD2	chr6:120326444-120327043	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr6:120398680-120398830	AG04449	skin:	n/a	n/a
27	CTCF	chr6:120377380-120377530	HMEC	breast:	n/a	n/a
28	CTCF	chr6:120377360-120377510	GM12874	blood:	n/a	n/a
29	CTCF	chr6:120409480-120409630	HepG2	liver:	n/a	n/a
30	CTCF	chr6:120377398-120377494	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr6:120377311-120377574	K562	blood:	n/a	n/a
32	CTCF	chr6:120398500-120398650	A549	lung:	n/a	n/a
33	CTCF	chr6:120377370-120377509	ProgFib	skin:	n/a	n/a
34	CTCF	chr6:120377313-120377581	GM13977	blood:	n/a	n/a
35	CTCF	chr6:120377340-120377490	A549	lung:	n/a	n/a
36	CTCF	chr6:120377320-120377470	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr6:120377269-120377551	GM12892	blood:	n/a	n/a
38	CTCF	chr6:120377160-120377310	WI-38	lung:	n/a	n/a
39	CTCF	chr6:120377340-120377490	GM12865	blood:	n/a	n/a
40	CTCF	chr6:120377320-120377470	AG09309	skin:	n/a	n/a
41	CTCF	chr6:120398700-120398850	HPF	lung:	n/a	n/a
42	CTCF	chr6:120377320-120377470	HAc	cerebellar:	n/a	n/a
43	CTCF	chr6:120398700-120398850	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr6:120377340-120377490	GM12866	blood:	n/a	n/a
45	CTCF	chr6:120377329-120377572	LNCaP	prostate:	n/a	n/a
46	CTCF	chr6:120377320-120377470	AG04449	skin:	n/a	n/a
47	CTCF	chr6:120377225-120377643	GM12878	blood:	n/a	n/a
48	CTCF	chr6:120398680-120398830	HepG2	liver:	n/a	n/a
49	CTCF	chr6:120316592-120316630	Fibrobl	skin:	n/a	n/a
50	CTCF	chr6:120377340-120377490	AG04449	skin:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
2	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:
3	chr6:120300992..120301525-chr6:120398530..120399259,2	MCF-7	breast:
4	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
5	chr6:119669573..119671735-chr6:120334179..120335706,2	MCF-7	breast:
6	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
7	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
8	chr6:120063102..120064201-chr6:120398484..120399225,3	MCF-7	breast:
9	chr6:120063304..120064010-chr6:120397825..120398847,3	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3144-3p	chr6:120336372-120336393	MIMAT0015015
hsa-miR-3144-5p	chr6:120336337-120336358	MIMAT0015014

No data

Variant related genes	Relation type
MIR3144	TF binding region
ENSG00000111885	chromatin interactions
ATM	Mature miRNA region

Extended variants
information (count: 299 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:299 , 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	rs571015180	chr6:120322678-120322679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539658770	chr6:120322692-120322693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367831263	chr6:120322739-120322740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546764076	chr6:120322773-120322774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146083114	chr6:120322829-120322830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117763257	chr6:120322830-120322831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140084734	chr6:120322838-120322839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143731783	chr6:120322869-120322870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577855448	chr6:120326303-120326304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540329741	chr6:120326364-120326365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564285429	chr6:120326371-120326372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560149750	chr6:120326412-120326413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139546710	chr6:120326442-120326443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184304371	chr6:120326444-120326445	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs62424148	chr6:120326465-120326466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542576024	chr6:120326530-120326531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562662675	chr6:120326550-120326551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149719594	chr6:120326601-120326602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540512412	chr6:120326692-120326693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551197335	chr6:120326770-120326771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571105390	chr6:120326794-120326795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527435986	chr6:120326800-120326801	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547584747	chr6:120326860-120326861	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs117536001	chr6:120326881-120326882	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536269812	chr6:120326882-120326883	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556496865	chr6:120326888-120326889	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570287091	chr6:120326889-120326890	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189603273	chr6:120326890-120326891	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559243479	chr6:120326926-120326927	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76794025	chr6:120327042-120327043	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541600271	chr6:120327071-120327072	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs553600718	chr6:120327083-120327084	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192823419	chr6:120327093-120327094	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549320112	chr6:120327169-120327170	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs146454125	chr6:120327170-120327171	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550909463	chr6:120327177-120327178	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145604303	chr6:120327233-120327234	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562489590	chr6:120327253-120327254	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12207153	chr6:120327256-120327257	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201747494	chr6:120327300-120327301	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149008317	chr6:120327303-120327304	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184505339	chr6:120327304-120327305	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564794551	chr6:120327309-120327310	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs72954771	chr6:120327318-120327319	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568630358	chr6:120327378-120327379	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547540242	chr6:120327390-120327391	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567056734	chr6:120327400-120327401	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561253173	chr6:120327428-120327429	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148907639	chr6:120327468-120327469	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs61218639	chr6:120327476-120327477	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120322600-120323000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:120326200-120326800	Active TSS	HepG2	liver
3	chr6:120326400-120326800	Active TSS	Ovary	ovary
4	chr6:120326400-120326800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:120326400-120327200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:120326400-120327200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:120326400-120327200	Active TSS	Hela-S3	cervix
8	chr6:120326400-120327200	Active TSS	K562	blood
9	chr6:120326400-120327800	Active TSS	A549	lung
10	chr6:120326600-120327200	Active TSS	Placenta	Placenta
11	chr6:120326600-120327400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:120326800-120327200	Bivalent/Poised TSS	HepG2	liver
13	chr6:120327200-120327400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:120327200-120327800	Active TSS	HepG2	liver
15	chr6:120327800-120328200	Flanking Active TSS	HepG2	liver
16	chr6:120328200-120328800	Active TSS	HepG2	liver
17	chr6:120328800-120329200	Enhancers	HepG2	liver
18	chr6:120352800-120353400	Enhancers	HepG2	liver
19	chr6:120376200-120377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:120377000-120377200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:120377200-120377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:120404600-120405000	Enhancers	Primary B cells from cord blood	blood

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