Variant report

Variant	nsv886014
Chromosome Location	chr6:65996855-66061173
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	ARID3A	chr6:66049641-66049730	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:66037858-66038164	HepG2	liver:	n/a	chr6:66037990-66038001
3	CEBPB	chr6:66037851-66038095	A549	lung:	n/a	chr6:66037990-66038001
4	CEBPB	chr6:66010691-66010956	K562	blood:	n/a	chr6:66010782-66010793
5	CEBPB	chr6:66010665-66010970	HepG2	liver:	n/a	chr6:66010782-66010793
6	CEBPB	chr6:66010679-66010939	K562	blood:	n/a	chr6:66010782-66010793
7	CEBPB	chr6:66037840-66038160	IMR90	lung:	n/a	chr6:66037990-66038001
8	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
9	CTCF	chr6:66012277-66012341	Lung_OC	lung:	n/a	n/a
10	CTCF	chr6:66034816-66034887	Lung_OC	lung:	n/a	n/a
11	CTCF	chr6:66046021-66046070	GM20000	blood:	n/a	n/a
12	CTCF	chr6:66046014-66046020	GM20000	blood:	n/a	n/a
13	CTCF	chr6:66037034-66037060	GM13976	blood:	n/a	n/a
14	CTCF	chr6:66060640-66060910	HepG2	liver:	n/a	n/a
15	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:66045931-66045981	ProgFib	skin:	n/a	n/a
17	E2F4	chr6:66050212-66050227	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr6:66010775-66010842	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr6:65999373-65999757	MCF10A-Er-Src	breast:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561
20	FOS	chr6:66036194-66036523	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr6:66036190-66036524	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:65999257-65999811	MCF10A-Er-Src	breast:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561
23	FOS	chr6:65999363-65999760	MCF10A-Er-Src	breast:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561
24	FOS	chr6:66036323-66036530	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr6:65999363-65999755	HUVEC	blood vessel:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561
26	FOS	chr6:66036190-66036525	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:65999370-65999758	MCF10A-Er-Src	breast:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561
28	FOS	chr6:66036191-66036538	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr6:66049552-66049843	T-47D	breast:	n/a	n/a
30	FOXA1	chr6:66049483-66049865	HepG2	liver:	n/a	n/a
31	FOXA1	chr6:66049429-66049831	HepG2	liver:	n/a	n/a
32	FOXA1	chr6:66049432-66049887	HepG2	liver:	n/a	n/a
33	GABPA	chr6:66011448-66011609	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr6:66011424-66011682	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr6:66011243-66011456	GM12878	blood:	n/a	n/a
36	GABPA	chr6:66011197-66011389	Hela-S3	cervix:	n/a	n/a
37	GATA2	chr6:66009188-66009446	HUVEC	blood vessel:	n/a	n/a
38	GATA3	chr6:66002890-66003049	SH-SY5Y	brain:	n/a	n/a
39	HEY1	chr6:66011201-66011592	HepG2	liver:	n/a	n/a
40	HEY1	chr6:66011218-66011588	K562	blood:	n/a	n/a
41	HEY1	chr6:66020914-66021092	HepG2	liver:	n/a	n/a
42	HEY1	chr6:66020920-66021086	K562	blood:	n/a	n/a
43	HEY1	chr6:66011291-66011512	HepG2	liver:	n/a	n/a
44	HEY1	chr6:66011204-66011645	K562	blood:	n/a	n/a
45	HEY1	chr6:66020950-66021056	HepG2	liver:	n/a	n/a
46	JUN	chr6:66046139-66046237	HepG2	liver:	n/a	chr6:66046169-66046182
47	JUN	chr6:65999386-65999735	HUVEC	blood vessel:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999553-65999561 chr6:65999552-65999561
48	JUND	chr6:65999408-65999703	HepG2	liver:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561
49	JUND	chr6:66011285-66011442	HepG2	liver:	n/a	n/a
50	JUND	chr6:65999345-65999746	Hela-S3	cervix:	n/a	chr6:65999554-65999561 chr6:65999553-65999562 chr6:65999551-65999562 chr6:65999553-65999561 chr6:65999552-65999561

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66013901-66013951	HMEC	breast:	n/a
2	chr6:66011288-66011338	AG10803	skin:	n/a
3	chr6:66013901-66013951	HMEC	breast:	n/a
4	chr6:66011288-66011338	AG10803	skin:	n/a
5	chr6:66011626-66011676	NHBE	bronchial:	n/a
6	chr6:66013901-66013951	HCPEpiC	choroid plexus:	n/a
7	chr6:66010172-66010222	NT2-D1	testis:	n/a
8	chr6:66013901-66013951	PrEC	prostate:	n/a
9	chr6:66011626-66011676	HUVEC	blood vessel:	n/a
10	chr6:66011626-66011676	BE2_C	brain:	n/a
11	chr6:66011288-66011338	HCPEpiC	choroid plexus:	n/a
12	chr6:66011288-66011338	HL-60	blood:	n/a
13	chr6:66010172-66010222	HMEC	breast:	n/a
14	chr6:66011626-66011676	GM12878	blood:	n/a
15	chr6:66011626-66011676	CMK	blood:	n/a
16	chr6:66011626-66011676	HCT-116	colon:	n/a
17	chr6:66010172-66010222	MCF-7	breast:	n/a
18	chr6:66011288-66011338	GM12878	blood:	n/a
19	chr6:66011626-66011676	HEK293	kidney:	embryo
20	chr6:66011626-66011676	HRPEpiC	eye:	n/a
21	chr6:66013901-66013951	SK-N-SH_RA	brain:	n/a
22	chr6:66013901-66013951	HRPEpiC	eye:	n/a
23	chr6:66011288-66011338	PANC-1	pancreas:	n/a
24	chr6:66011288-66011338	AoSMC	blood vessel:	n/a
25	chr6:66011288-66011338	HEK293	kidney:	embryo
26	chr6:66010172-66010222	AG10803	skin:	n/a
27	chr6:66011288-66011338	NT2-D1	testis:	n/a
28	chr6:66011626-66011676	NHDF-neo	bronchial:	n/a
29	chr6:66013901-66013951	HIPEpiC	eye:	n/a
30	chr6:66013901-66013951	AG09319	gingival:	n/a
31	chr6:66010172-66010222	HRCEpiC	kidney:	n/a
32	chr6:66011288-66011338	AG04450	lung:	fetal
33	chr6:66013901-66013951	GM06990	blood:	n/a
34	chr6:66010172-66010222	ovcar-3	ovarian:	n/a
35	chr6:66010172-66010222	GM06990	blood:	n/a
36	chr6:66013901-66013951	NT2-D1	testis:	n/a
37	chr6:66013901-66013951	SK-N-MC	brain:	n/a
38	chr6:66011626-66011676	AG04450	lung:	fetal
39	chr6:66013901-66013951	K562	blood:	n/a
40	chr6:66010172-66010222	NH-A	brain:	n/a
41	chr6:66010172-66010222	CMK	blood:	n/a
42	chr6:66013901-66013951	GM12878	blood:	n/a
43	chr6:66011626-66011676	HepG2	liver:	n/a
44	chr6:66011626-66011676	HRE	kidney:	n/a
45	chr6:66011288-66011338	HMEC	breast:	n/a
46	chr6:66010172-66010222	MCF10A-Er-Src	breast:	n/a
47	chr6:66013901-66013951	CMK	blood:	n/a
48	chr6:66011626-66011676	NB4	blood:	n/a
49	chr6:66010172-66010222	RPTEC	kidney:	n/a
50	chr6:66011626-66011676	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:
2	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-6	chr6:66005718-66006012	NONHSAT113370
2	lnc-LGSN-6	chr6:66012701-66012904	NONHSAT113369
3	lnc-LGSN-6	chr6:66010740-66010831	NONHSAT113370
4	lnc-LGSN-6	chr6:66012701-66012830	NONHSAT113370
5	lnc-LGSN-6	chr6:66005650-66006012	NONHSAT113369

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EYS	hsa-miR-124-3p	chr6:66040931-66040951

Variant related genes	Relation type
EYS	TF binding region
ENSG00000214558	TF binding region
EYS	CpG island
ENSG00000214558	CpG island

Extended variants
information (count: 251 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:251 , 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	rs542206927	chr6:65999082-65999083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542673175	chr6:65999102-65999103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183259478	chr6:65999140-65999141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529691402	chr6:65999156-65999157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543030113	chr6:65999163-65999164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562917000	chr6:65999192-65999193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532081235	chr6:65999244-65999245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201381617	chr6:65999262-65999263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551814884	chr6:65999280-65999281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377751183	chr6:65999328-65999329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34727934	chr6:65999349-65999350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371495783	chr6:65999372-65999373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16885967	chr6:65999394-65999395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548214030	chr6:65999406-65999407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187108067	chr6:65999407-65999408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536911597	chr6:65999437-65999438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557397783	chr6:65999441-65999442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9360121	chr6:65999511-65999512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539981388	chr6:65999543-65999544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553502122	chr6:65999576-65999577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573387714	chr6:65999604-65999605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542394402	chr6:65999637-65999638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547858909	chr6:65999685-65999686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6455035	chr6:65999709-65999710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575916336	chr6:65999719-65999720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544457016	chr6:65999729-65999730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562953877	chr6:65999762-65999763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576420582	chr6:65999766-65999767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7752877	chr6:65999792-65999793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192026690	chr6:65999809-65999810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528307466	chr6:65999874-65999875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548377650	chr6:65999884-65999885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151147041	chr6:65999886-65999887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76226268	chr6:65999889-65999890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77128368	chr6:65999902-65999903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553590696	chr6:65999903-65999904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570907970	chr6:65999946-65999947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77234945	chr6:65999967-65999968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72884819	chr6:65999992-65999993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184381713	chr6:65999994-65999995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369735034	chr6:65999999-66000000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16896496	chr6:66000112-66000113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529609969	chr6:66000132-66000133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575708805	chr6:66000184-66000185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183853882	chr6:66005652-66005653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs541043938	chr6:66005658-66005659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560504874	chr6:66005667-66005668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs565171576	chr6:66005716-66005717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs567365942	chr6:66005740-66005741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs374955689	chr6:66005741-66005742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65999000-66000200	Enhancers	HUVEC	blood vessel
2	chr6:66007600-66009400	Enhancers	HUVEC	blood vessel
3	chr6:66028600-66028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:66045000-66045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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