Variant report

Variant	nsv886573
Chromosome Location	chr6:120284480-120409492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1069)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:120352931-120353297	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:120326309-120327725	HepG2	liver:	n/a	n/a
3	BACH1	chr6:120287569-120287825	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:120287620-120287623	K562	blood:	n/a	n/a
5	BRCA1	chr6:120326508-120326990	HepG2	liver:	n/a	n/a
6	BRCA1	chr6:120326609-120327051	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr6:120287637-120287924	K562	blood:	n/a	n/a
8	CBX3	chr6:120287660-120287935	K562	blood:	n/a	n/a
9	CCNT2	chr6:120317687-120317800	K562	blood:	n/a	n/a
10	CEBPB	chr6:120331248-120331667	IMR90	lung:	n/a	chr6:120331429-120331440
11	CEBPB	chr6:120308341-120308562	HepG2	liver:	n/a	chr6:120308496-120308507
12	CEBPB	chr6:120302199-120302448	K562	blood:	n/a	chr6:120302344-120302355
13	CEBPB	chr6:120287695-120287926	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:120331298-120331555	K562	blood:	n/a	chr6:120331429-120331440
15	CEBPB	chr6:120331256-120331615	ECC-1	luminal epithelium:	n/a	chr6:120331429-120331440
16	CEBPB	chr6:120374222-120374417	HepG2	liver:	n/a	chr6:120374335-120374346
17	CEBPB	chr6:120297953-120298283	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr6:120302222-120302500	HepG2	liver:	n/a	chr6:120302344-120302355
19	CEBPB	chr6:120379598-120379893	HepG2	liver:	n/a	chr6:120379752-120379763
20	CEBPB	chr6:120298002-120298268	HepG2	liver:	n/a	n/a
21	CEBPB	chr6:120352932-120353789	HepG2	liver:	n/a	chr6:120353094-120353105
22	CEBPB	chr6:120331244-120331934	HepG2	liver:	n/a	chr6:120331429-120331440
23	CEBPB	chr6:120331246-120331597	Hela-S3	cervix:	n/a	chr6:120331429-120331440
24	CEBPB	chr6:120326498-120326653	HepG2	liver:	n/a	n/a
25	CEBPB	chr6:120323715-120324021	HepG2	liver:	n/a	n/a
26	CEBPB	chr6:120331249-120331601	A549	lung:	n/a	chr6:120331429-120331440
27	CEBPB	chr6:120348612-120348869	HepG2	liver:	n/a	n/a
28	CEBPB	chr6:120326393-120327061	HepG2	liver:	n/a	n/a
29	CEBPB	chr6:120348662-120348764	A549	lung:	n/a	n/a
30	CEBPB	chr6:120352944-120353373	HepG2	liver:	n/a	chr6:120353094-120353105
31	CEBPB	chr6:120353107-120353301	HepG2	liver:	n/a	n/a
32	CHD2	chr6:120326379-120327095	HepG2	liver:	n/a	n/a
33	CHD2	chr6:120326616-120326992	K562	blood:	n/a	n/a
34	CHD2	chr6:120326444-120327043	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr6:120377177-120377576	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr6:120299539-120299731	LNCaP	prostate:	n/a	chr6:120299621-120299639
37	CTCF	chr6:120377360-120377510	AG09319	gingival:	n/a	n/a
38	CTCF	chr6:120299600-120299750	NHDF-neo	bronchial:	n/a	chr6:120299621-120299639
39	CTCF	chr6:120398743-120398857	GM12891	blood:	n/a	n/a
40	CTCF	chr6:120287780-120287930	GM12875	blood:	n/a	n/a
41	CTCF	chr6:120398740-120398890	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr6:120287764-120287922	GM20000	blood:	n/a	n/a
43	CTCF	chr6:120301200-120301350	NHEK	skin:	n/a	chr6:120301211-120301227 chr6:120301210-120301228 chr6:120301212-120301233
44	CTCF	chr6:120287656-120287911	HepG2	liver:	n/a	n/a
45	CTCF	chr6:120377338-120377579	GM13976	blood:	n/a	n/a
46	CTCF	chr6:120299539-120299692	HepG2	liver:	n/a	chr6:120299621-120299639
47	CTCF	chr6:120377320-120377470	Caco-2	colon:	n/a	n/a
48	CTCF	chr6:120287747-120287926	HepG2	liver:	n/a	n/a
49	CTCF	chr6:120308233-120308351	GM19240	blood:	n/a	n/a
50	CTCF	chr6:120287747-120287932	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:120063102..120064201-chr6:120398484..120399225,3	MCF-7	breast:
2	chr6:120300752..120301282-chr6:120699843..120700377,2	MCF-7	breast:
3	chr6:119767806..119768327-chr6:120289096..120289698,2	MCF-7	breast:
4	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
5	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
6	chr6:120398336..120399006-chr6:120699718..120700358,2	MCF-7	breast:
7	chr6:120063099..120063972-chr6:120299027..120300018,3	MCF-7	breast:
8	chr6:120298189..120300241-chr6:120305416..120307526,2	MCF-7	breast:
9	chr6:119669559..119673383-chr6:120295131..120298974,3	MCF-7	breast:
10	chr6:119669573..119671735-chr6:120334179..120335706,2	MCF-7	breast:
11	chr6:120122144..120122728-chr6:120288699..120289710,3	MCF-7	breast:
12	chr6:120385733..120388673-chr6:120392055..120394693,3	K562	blood:
13	chr6:120300992..120301525-chr6:120398530..120399259,2	MCF-7	breast:
14	chr6:120119688..120120496-chr6:120288863..120289595,2	MCF-7	breast:
15	chr6:120282161..120283990-chr6:120300493..120302186,2	K562	blood:
16	chr6:120385474..120388281-chr6:120392055..120395872,3	K562	blood:
17	chr6:119671889..119672806-chr6:120299171..120300057,2	MCF-7	breast:
18	chr6:120122117..120122728-chr6:120288699..120289670,3	MCF-7	breast:
19	chr17:57920951..57922678-chr6:120307350..120309940,2	MCF-7	breast:
20	chr6:120300992..120301525-chr6:120398530..120399259,2	MCF-7	breast:
21	chr6:120298189..120300241-chr6:120305416..120307526,2	MCF-7	breast:
22	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: 766 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs726178	chr6:120284480-120284481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139194382	chr6:120284556-120284557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372358522	chr6:120284560-120284561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566240830	chr6:120284563-120284564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528738046	chr6:120284608-120284609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548809592	chr6:120284629-120284630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568636040	chr6:120284647-120284648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536374634	chr6:120284654-120284655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138707362	chr6:120284682-120284683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183057357	chr6:120284696-120284697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538245396	chr6:120284700-120284701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537194986	chr6:120284721-120284722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374943270	chr6:120284744-120284745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551670116	chr6:120284769-120284770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141245667	chr6:120284775-120284776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571536252	chr6:120284778-120284779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572252299	chr6:120284858-120284859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187352084	chr6:120284874-120284875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554368081	chr6:120284880-120284881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146964561	chr6:120284900-120284901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138269724	chr6:120284944-120284945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563434653	chr6:120284979-120284980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9401193	chr6:120284989-120284990	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs567580705	chr6:120285024-120285025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567464059	chr6:120285092-120285093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544804688	chr6:120285158-120285159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559659461	chr6:120285160-120285161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528798485	chr6:120285175-120285176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548872545	chr6:120285194-120285195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17557428	chr6:120285216-120285217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531109933	chr6:120285262-120285263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572045393	chr6:120285272-120285273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550167874	chr6:120285280-120285281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375445034	chr6:120285281-120285282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549941268	chr6:120285297-120285298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569646755	chr6:120285307-120285308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538677925	chr6:120285346-120285347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551893047	chr6:120285449-120285450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149624772	chr6:120285476-120285477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370081096	chr6:120285493-120285494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115239441	chr6:120285559-120285560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554431169	chr6:120285666-120285667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs982773	chr6:120285711-120285712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192678274	chr6:120285723-120285724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557072481	chr6:120285735-120285736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118049043	chr6:120285832-120285833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13196027	chr6:120285855-120285856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13212166	chr6:120285856-120285857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559509437	chr6:120285866-120285867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150461609	chr6:120285871-120285872	Weak transcription	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120279000-120288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:120282800-120288400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:120287200-120287400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:120287200-120288400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:120287400-120287800	Enhancers	K562	blood
6	chr6:120287400-120291400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:120288400-120289600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:120291000-120291800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:120295400-120295800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:120295400-120295800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:120295400-120296200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:120296600-120297000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:120297600-120298600	Enhancers	Colon Smooth Muscle	Colon
14	chr6:120298400-120298800	Enhancers	Stomach Mucosa	stomach
15	chr6:120299000-120299400	Enhancers	Stomach Mucosa	stomach
16	chr6:120299200-120299600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:120299600-120300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:120300000-120300600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:120300400-120300800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:120306800-120307400	Enhancers	HMEC	breast
21	chr6:120306800-120307600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:120306800-120307800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:120307000-120307800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:120307800-120308200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:120308200-120308400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:120322600-120323000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:120326200-120326800	Active TSS	HepG2	liver
28	chr6:120326400-120326800	Active TSS	Ovary	ovary
29	chr6:120326400-120326800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:120326400-120327200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:120326400-120327200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr6:120326400-120327200	Active TSS	Hela-S3	cervix
33	chr6:120326400-120327200	Active TSS	K562	blood
34	chr6:120326400-120327800	Active TSS	A549	lung
35	chr6:120326600-120327200	Active TSS	Placenta	Placenta
36	chr6:120326600-120327400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:120326800-120327200	Bivalent/Poised TSS	HepG2	liver
38	chr6:120327200-120327400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:120327200-120327800	Active TSS	HepG2	liver
40	chr6:120327800-120328200	Flanking Active TSS	HepG2	liver
41	chr6:120328200-120328800	Active TSS	HepG2	liver
42	chr6:120328800-120329200	Enhancers	HepG2	liver
43	chr6:120352800-120353400	Enhancers	HepG2	liver
44	chr6:120376200-120377000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:120377000-120377200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:120377200-120377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:120404600-120405000	Enhancers	Primary B cells from cord blood	blood

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