Variant report

Variant	nsv463147
Chromosome Location	chr6:69185660-69242020
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	BACH1	chr6:69239233-69239251	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:69204892-69204954	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:69196503-69196515	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:69189397-69189527	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:69208000-69208150	HPF	lung:	n/a	n/a
6	CTCF	chr6:69207960-69208110	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr6:69238464-69238493	GM10248	blood:	n/a	n/a
8	CTCF	chr6:69218961-69219006	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr6:69236325-69236344	Lung_OC	lung:	n/a	n/a
10	CTCF	chr6:69207920-69208070	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr6:69207980-69208130	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr6:69236148-69236207	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr6:69236149-69236216	GM13976	blood:	n/a	n/a
14	E2F4	chr6:69240556-69240560	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr6:69207918-69208241	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr6:69193197-69193664	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr6:69189090-69189154	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr6:69212746-69212833	K562	blood:	n/a	n/a
19	EP300	chr6:69226144-69226192	K562	blood:	n/a	n/a
20	EP300	chr6:69200312-69200673	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr6:69200269-69200697	SK-N-SH_RA	brain:	n/a	n/a
22	FAM48A	chr6:69197635-69197730	GM12878	blood:	n/a	n/a
23	FOS	chr6:69207851-69208163	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:69216773-69217099	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:69207886-69208150	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr6:69216802-69217041	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:69216815-69217325	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr6:69216797-69217087	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:69207851-69208183	MCF10A-Er-Src	breast:	n/a	n/a
30	FOXA1	chr6:69222292-69222719	T-47D	breast:	n/a	chr6:69222503-69222515 chr6:69222580-69222592
31	GATA3	chr6:69203859-69203940	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr6:69200172-69200680	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr6:69241753-69241950	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr6:69240808-69241137	SH-SY5Y	brain:	n/a	chr6:69240984-69240991 chr6:69240977-69240998 chr6:69240984-69240991 chr6:69240984-69240991
35	GATA3	chr6:69213103-69213381	T-47D	breast:	n/a	n/a
36	GATA3	chr6:69222252-69222630	T-47D	breast:	n/a	n/a
37	GATA3	chr6:69209463-69209816	SH-SY5Y	brain:	n/a	chr6:69209646-69209653
38	GATA3	chr6:69222494-69222812	T-47D	breast:	n/a	n/a
39	JUN	chr6:69230952-69231070	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr6:69226739-69227019	HepG2	liver:	n/a	n/a
41	KAP1	chr6:69217864-69218136	K562	blood:	n/a	n/a
42	KAP1	chr6:69207986-69208045	K562	blood:	n/a	n/a
43	KAP1	chr6:69225718-69225899	K562	blood:	n/a	n/a
44	KAP1	chr6:69212691-69212852	K562	blood:	n/a	n/a
45	MAFF	chr6:69193526-69193684	HepG2	liver:	n/a	chr6:69193631-69193649
46	MAFF	chr6:69217897-69218028	HepG2	liver:	n/a	n/a
47	MAFK	chr6:69198892-69199032	HepG2	liver:	n/a	chr6:69198973-69198984 chr6:69198973-69198984
48	MAFK	chr6:69217967-69218139	HepG2	liver:	n/a	n/a
49	MAFK	chr6:69186565-69186819	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAFK	chr6:69193498-69193734	HepG2	liver:	n/a	chr6:69193636-69193647 chr6:69193637-69193648 chr6:69193632-69193648 chr6:69193637-69193648 chr6:69193635-69193649

No.	Distal block	Cell Line	Cell type
1	chr6:69191363..69194136-chr6:69196139..69198220,2	K562	blood:
2	chr17:41382033..41383660-chr6:69231475..69232975,2	K562	blood:
3	chr6:69188166..69190733-chr6:69192752..69194576,2	K562	blood:
4	chr17:41380326..41381992-chr6:69231475..69232995,3	MCF-7	breast:
5	chr6:69191363..69194136-chr6:69196139..69198220,2	K562	blood:
6	chr17:41380252..41382150-chr6:69231475..69232995,3	MCF-7	breast:
7	chr6:69182580..69184340-chr6:69184575..69186290,2	K562	blood:
8	chr6:69187451..69191074-chr6:69191437..69194576,4	K562	blood:
9	chr6:69187451..69191074-chr6:69191437..69194576,4	K562	blood:
10	chr17:41463798..41466662-chr6:69229976..69232995,3	K562	blood:
11	chr6:69053703..69054300-chr6:69207678..69208508,2	MCF-7	breast:
12	chr6:69188166..69190733-chr6:69192752..69194576,2	K562	blood:

Variant related genes	Relation type
ENSG00000266675	TF binding region
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 423 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4708157	chr6:69185660-69185661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369129748	chr6:69185663-69185664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542771216	chr6:69185691-69185692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577760884	chr6:69185737-69185738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373310263	chr6:69185755-69185756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557028744	chr6:69185757-69185758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12191223	chr6:69185758-69185759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1565489	chr6:69185767-69185768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370398640	chr6:69185804-69185805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1565490	chr6:69185861-69185862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11964194	chr6:69185867-69185868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146716364	chr6:69185910-69185911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13197248	chr6:69185960-69185961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561347825	chr6:69185996-69185997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529757983	chr6:69186013-69186014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549446808	chr6:69186036-69186037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540569149	chr6:69186053-69186054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371322386	chr6:69186124-69186125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184997162	chr6:69186141-69186142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551794748	chr6:69186142-69186143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565924443	chr6:69186155-69186156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534616053	chr6:69186257-69186258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188619207	chr6:69186300-69186301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116474267	chr6:69186303-69186304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181137833	chr6:69186315-69186316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186177848	chr6:69186343-69186344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576649466	chr6:69186357-69186358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538992399	chr6:69186363-69186364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558911284	chr6:69186366-69186367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558992604	chr6:69186368-69186369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199998425	chr6:69186375-69186376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190449001	chr6:69186403-69186404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532376864	chr6:69186410-69186411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182425568	chr6:69186483-69186484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs352545	chr6:69186491-69186492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144887315	chr6:69186503-69186504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111476013	chr6:69186516-69186517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149044993	chr6:69186522-69186523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563023406	chr6:69186563-69186564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77341070	chr6:69186603-69186604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187147151	chr6:69186744-69186745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551709432	chr6:69186812-69186813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78001281	chr6:69186813-69186814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528123391	chr6:69186821-69186822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191206271	chr6:69186988-69186989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62417108	chr6:69186991-69186992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142102167	chr6:69186995-69186996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs66754606	chr6:69187026-69187027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375182375	chr6:69187028-69187029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568388066	chr6:69187040-69187041	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69184200-69185800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:69185600-69187400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:69185800-69186400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:69185800-69186800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:69185800-69187600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:69186000-69187600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:69186200-69187600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:69186200-69187800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:69186400-69187600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:69186800-69187600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:69187400-69188800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:69187600-69188800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:69188800-69189200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:69188800-69189600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:69192600-69193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:69193200-69194200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:69194200-69194400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:69208000-69208400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:69235800-69236200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:69236000-69236600	Enhancers	HUES48 Cell Line	embryonic stem cell

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