Variant report

Variant	nsv886031
Chromosome Location	chr6:66177078-66237309
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	CBX3	chr6:66193565-66193851	K562	blood:	n/a	n/a
2	CEBPB	chr6:66192989-66193263	HepG2	liver:	n/a	chr6:66193166-66193179 chr6:66193107-66193120 chr6:66193107-66193118
3	CEBPB	chr6:66230294-66230581	IMR90	lung:	n/a	n/a
4	CEBPB	chr6:66230260-66230571	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:66195051-66195251	IMR90	lung:	n/a	n/a
6	CTCF	chr6:66201727-66201746	GM13977	blood:	n/a	n/a
7	CTCF	chr6:66218761-66218798	GM20000	blood:	n/a	n/a
8	E2F4	chr6:66229242-66229246	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr6:66196398-66196435	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr6:66204811-66205276	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr6:66205564-66205867	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr6:66205017-66205334	SK-N-SH_RA	brain:	n/a	n/a
13	FOS	chr6:66237062-66237345	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:66237047-66237386	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA2	chr6:66210562-66210796	HepG2	liver:	n/a	chr6:66210677-66210689
16	GATA3	chr6:66203221-66203445	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr6:66205112-66205333	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr6:66205806-66205863	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr6:66231396-66231622	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr6:66229955-66230118	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr6:66207255-66207455	SH-SY5Y	brain:	n/a	chr6:66207431-66207452 chr6:66207433-66207449 chr6:66207436-66207445 chr6:66207438-66207448
22	IRF1	chr6:66179730-66179740	K562	blood:	n/a	n/a
23	JUN	chr6:66219546-66219698	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUN	chr6:66181402-66181602	HepG2	liver:	n/a	chr6:66181502-66181515 chr6:66181460-66181473
25	JUND	chr6:66221472-66221675	HepG2	liver:	n/a	chr6:66221573-66221584
26	JUND	chr6:66206414-66206686	HepG2	liver:	n/a	chr6:66206564-66206574 chr6:66206564-66206574 chr6:66206563-66206574 chr6:66206565-66206574
27	JUND	chr6:66237083-66237347	HepG2	liver:	n/a	chr6:66237221-66237232 chr6:66237187-66237198
28	JUND	chr6:66181320-66181648	HepG2	liver:	n/a	n/a
29	KAP1	chr6:66227547-66227792	K562	blood:	n/a	n/a
30	KAP1	chr6:66215603-66216298	U2OS	brain:	n/a	n/a
31	KAP1	chr6:66215530-66216360	HEK293	kidney:	n/a	n/a
32	MAFF	chr6:66179909-66180182	HepG2	liver:	n/a	n/a
33	MAFF	chr6:66179991-66180128	K562	blood:	n/a	n/a
34	MAFF	chr6:66184456-66184776	HepG2	liver:	n/a	chr6:66184613-66184631
35	MAFK	chr6:66179923-66180198	HepG2	liver:	n/a	chr6:66180057-66180068 chr6:66180057-66180068 chr6:66180060-66180077 chr6:66179966-66179982 chr6:66180057-66180073 chr6:66179965-66179979 chr6:66180056-66180070
36	MAFK	chr6:66184455-66184758	HepG2	liver:	n/a	chr6:66184615-66184630
37	MAFK	chr6:66200160-66200218	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFK	chr6:66179895-66180215	HepG2	liver:	n/a	chr6:66180057-66180068 chr6:66180057-66180068 chr6:66180060-66180077 chr6:66179966-66179982 chr6:66180057-66180073 chr6:66179965-66179979 chr6:66180056-66180070
39	MAFK	chr6:66181386-66181540	HepG2	liver:	n/a	n/a
40	MAFK	chr6:66180520-66180586	HepG2	liver:	n/a	n/a
41	MAFK	chr6:66231660-66231860	HepG2	liver:	n/a	chr6:66231724-66231739
42	MAFK	chr6:66184556-66184764	HepG2	liver:	n/a	chr6:66184615-66184630
43	MAFK	chr6:66231710-66231762	HepG2	liver:	n/a	chr6:66231724-66231739
44	MAFK	chr6:66179901-66180191	IMR90	lung:	n/a	chr6:66180057-66180068 chr6:66180057-66180068 chr6:66180060-66180077 chr6:66179966-66179982 chr6:66180057-66180073 chr6:66179965-66179979 chr6:66180056-66180070
45	MAZ	chr6:66202662-66202670	HepG2	liver:	n/a	n/a
46	MXI1	chr6:66206254-66206263	GM12878	blood:	n/a	n/a
47	MYC	chr6:66215516-66215823	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr6:66199950-66200109	MCF10A-Er-Src	breast:	n/a	n/a
49	NR3C1	chr6:66215624-66215903	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr6:66193752-66193868	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66205227-66205277	HRPEpiC	eye:	n/a
2	chr6:66207286-66207336	RPTEC	kidney:	n/a
3	chr6:66205227-66205277	Caco-2	colon:	n/a
4	chr6:66205227-66205277	H1-hESC	embryonic stem cell:	embryo
5	chr6:66207286-66207336	Caco-2	colon:	n/a
6	chr6:66207286-66207336	LNCaP	prostate:	n/a
7	chr6:66205227-66205277	GM12892	blood:	n/a
8	chr6:66207286-66207336	AG10803	skin:	n/a
9	chr6:66205227-66205277	GM12878	blood:	n/a
10	chr6:66205227-66205277	HepG2	liver:	n/a
11	chr6:66207286-66207336	GM12891	blood:	n/a
12	chr6:66205227-66205277	NB4	blood:	n/a
13	chr6:66207286-66207336	HL-60	blood:	n/a
14	chr6:66205227-66205277	HRE	kidney:	n/a
15	chr6:66205227-66205277	AG04450	lung:	fetal
16	chr6:66205227-66205277	Hela-S3	cervix:	n/a
17	chr6:66205227-66205277	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:66207286-66207336	MCF-7	breast:	n/a
19	chr6:66205227-66205277	Jurkat	blood:	n/a
20	chr6:66207286-66207336	NHBE	bronchial:	n/a
21	chr6:66205227-66205277	SAEC	small airway:	n/a
22	chr6:66207286-66207336	HRE	kidney:	n/a
23	chr6:66207286-66207336	GM12878	blood:	n/a
24	chr6:66205227-66205277	HCT-116	colon:	n/a
25	chr6:66207286-66207336	HCPEpiC	choroid plexus:	n/a
26	chr6:66205227-66205277	AG09319	gingival:	n/a
27	chr6:66205227-66205277	HCM	heart:	n/a
28	chr6:66207286-66207336	AG04450	lung:	fetal
29	chr6:66207286-66207336	SKMC	muscle:	n/a
30	chr6:66205227-66205277	PANC-1	pancreas:	n/a
31	chr6:66207286-66207336	HPAEpiC	pulmonary alveolar:	n/a
32	chr6:66207286-66207336	HNPCEpiC	eye:	n/a
33	chr6:66205227-66205277	K562	blood:	n/a
34	chr6:66207286-66207336	A549	lung:	n/a
35	chr6:66207286-66207336	SAEC	small airway:	n/a
36	chr6:66205227-66205277	ovcar-3	ovarian:	n/a
37	chr6:66205227-66205277	ECC-1	luminal epithelium:	n/a
38	chr6:66207286-66207336	AoSMC	blood vessel:	n/a
39	chr6:66207286-66207336	Hepatocyte	liver:	n/a
40	chr6:66205227-66205277	SKMC	muscle:	n/a
41	chr6:66205227-66205277	SK-N-SH	brain:	n/a
42	chr6:66205227-66205277	HIPEpiC	eye:	n/a
43	chr6:66205227-66205277	HAEpiC	amniotic membrane:	n/a
44	chr6:66205227-66205277	HEEpiC	esophagus:	n/a
45	chr6:66205227-66205277	AG09309	skin:	n/a
46	chr6:66205227-66205277	SK-N-SH_RA	brain:	n/a
47	chr6:66205227-66205277	HL-60	blood:	n/a
48	chr6:66207286-66207336	NB4	blood:	n/a
49	chr6:66207286-66207336	PrEC	prostate:	n/a
50	chr6:66207286-66207336	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:66205424..66207848-chr6:66208785..66211406,2	K562	blood:
2	chr6:66228230..66230523-chr6:66231359..66233821,2	MCF-7	breast:
3	chr6:66228230..66230523-chr6:66231359..66233821,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-7	chr6:66204556-66205500	NONHSAT113373
2	lnc-LGSN-7	chr6:66205752-66205886	NONHSAT113373
3	lnc-LGSN-7	chr6:66199254-66200600	NONHSAT113373
4	lnc-PHF3-3	chr6:66191208-66191429	ENSG00000230672.1
5	lnc-PHF3-3	chr6:66191784-66191981	ENSG00000230672.1

Variant related genes	Relation type
ENSG00000265187	TF binding region
EYS	TF binding region
ENSG00000265187	CpG island
EYS	CpG island
ENSG00000188107	chromatin interactions

Extended variants
information (count: 353 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35842906	chr6:66177395-66177396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs35482845	chr6:66177397-66177398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs5876966	chr6:66177398-66177399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs369919873	chr6:66177415-66177416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562620584	chr6:66177421-66177422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs16896687	chr6:66179901-66179902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548428994	chr6:66179914-66179915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563785507	chr6:66179963-66179964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537074547	chr6:66180013-66180014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs192901829	chr6:66180074-66180075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs184936629	chr6:66180159-66180160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139026673	chr6:66180180-66180181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs16896691	chr6:66180604-66180605	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374278727	chr6:66180615-66180616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545735671	chr6:66180644-66180645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189410305	chr6:66180690-66180691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528299628	chr6:66180694-66180695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370216536	chr6:66180702-66180703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114570126	chr6:66180707-66180708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182007826	chr6:66180745-66180746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550695859	chr6:66180787-66180788	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs67861748	chr6:66180830-66180831	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181133868	chr6:66181323-66181324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs376596345	chr6:66181376-66181377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs371347910	chr6:66181379-66181380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs115141008	chr6:66181410-66181411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561963215	chr6:66181427-66181428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369896518	chr6:66181433-66181434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs73741595	chr6:66181459-66181460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530475870	chr6:66181463-66181464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs72876242	chr6:66181476-66181477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370679317	chr6:66181486-66181487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374196816	chr6:66181607-66181608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550172061	chr6:66181633-66181634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538978892	chr6:66191213-66191214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs138238363	chr6:66191230-66191231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs58253604	chr6:66191234-66191235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200262556	chr6:66191235-66191236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs534008673	chr6:66191249-66191250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs56166832	chr6:66191267-66191268	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540287444	chr6:66191309-66191310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs577297311	chr6:66191329-66191330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs190405387	chr6:66191335-66191336	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs371131409	chr6:66191377-66191378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs58710475	chr6:66191382-66191383	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542642911	chr6:66191391-66191392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs555191174	chr6:66191801-66191802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs573771556	chr6:66191819-66191820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs542779814	chr6:66191828-66191829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs556174054	chr6:66191837-66191838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66210400-66211000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:66234200-66234600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:66234600-66235000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:66235000-66235800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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