Variant report

Variant	nsv603433
Chromosome Location	chr6:66006820-66072542
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	BACH1	chr6:66066175-66066268	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:66064211-66064491	A549	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
4	CEBPB	chr6:66064226-66064435	H1-hESC	embryonic stem cell:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
5	CEBPB	chr6:66064245-66064517	Hela-S3	cervix:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
6	CEBPB	chr6:66010691-66010956	K562	blood:	n/a	chr6:66010782-66010793
7	CEBPB	chr6:66064192-66064538	HepG2	liver:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
8	CEBPB	chr6:66037851-66038095	A549	lung:	n/a	chr6:66037990-66038001
9	CEBPB	chr6:66010679-66010939	K562	blood:	n/a	chr6:66010782-66010793
10	CEBPB	chr6:66037840-66038160	IMR90	lung:	n/a	chr6:66037990-66038001
11	CEBPB	chr6:66064262-66064425	K562	blood:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
12	CEBPB	chr6:66037858-66038164	HepG2	liver:	n/a	chr6:66037990-66038001
13	CEBPB	chr6:66010665-66010970	HepG2	liver:	n/a	chr6:66010782-66010793
14	CEBPB	chr6:66064204-66064473	IMR90	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
15	CEBPB	chr6:66066493-66066779	HepG2	liver:	n/a	chr6:66066621-66066632
16	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:66037034-66037060	GM13976	blood:	n/a	n/a
18	CTCF	chr6:66034816-66034887	Lung_OC	lung:	n/a	n/a
19	CTCF	chr6:66046021-66046070	GM20000	blood:	n/a	n/a
20	CTCF	chr6:66046014-66046020	GM20000	blood:	n/a	n/a
21	CTCF	chr6:66060640-66060910	HepG2	liver:	n/a	n/a
22	CTCF	chr6:66045931-66045981	ProgFib	skin:	n/a	n/a
23	CTCF	chr6:66012277-66012341	Lung_OC	lung:	n/a	n/a
24	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
25	E2F4	chr6:66050212-66050227	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr6:66010775-66010842	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:66036323-66036530	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr6:66062409-66062725	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
29	FOS	chr6:66064253-66064452	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
30	FOS	chr6:66064258-66064458	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
31	FOS	chr6:66064328-66064453	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
32	FOS	chr6:66036194-66036523	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:66062459-66062747	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
34	FOS	chr6:66036190-66036524	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:66062410-66062703	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
36	FOS	chr6:66036191-66036538	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:66036190-66036525	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA1	chr6:66049432-66049887	HepG2	liver:	n/a	n/a
39	FOXA1	chr6:66049552-66049843	T-47D	breast:	n/a	n/a
40	FOXA1	chr6:66049429-66049831	HepG2	liver:	n/a	n/a
41	FOXA1	chr6:66049483-66049865	HepG2	liver:	n/a	n/a
42	GABPA	chr6:66011448-66011609	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr6:66011197-66011389	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr6:66011243-66011456	GM12878	blood:	n/a	n/a
45	GABPA	chr6:66011424-66011682	Hela-S3	cervix:	n/a	n/a
46	GATA2	chr6:66009188-66009446	HUVEC	blood vessel:	n/a	n/a
47	HEY1	chr6:66020950-66021056	HepG2	liver:	n/a	n/a
48	HEY1	chr6:66011218-66011588	K562	blood:	n/a	n/a
49	HEY1	chr6:66011201-66011592	HepG2	liver:	n/a	n/a
50	HEY1	chr6:66011291-66011512	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66011288-66011338	NHBE	bronchial:	n/a
2	chr6:66011288-66011338	NHBE	bronchial:	n/a
3	chr6:66011626-66011676	HMEC	breast:	n/a
4	chr6:66011626-66011676	MCF10A-Er-Src	breast:	n/a
5	chr6:66011288-66011338	RPTEC	kidney:	n/a
6	chr6:66013901-66013951	GM19239	blood:	n/a
7	chr6:66013901-66013951	H1-hESC	embryonic stem cell:	embryo
8	chr6:66011626-66011676	IMR90	lung:	fetal
9	chr6:66013901-66013951	AG04450	lung:	fetal
10	chr6:66011626-66011676	Hepatocyte	liver:	n/a
11	chr6:66011288-66011338	GM12878	blood:	n/a
12	chr6:66011288-66011338	Jurkat	blood:	n/a
13	chr6:66011626-66011676	HepG2	liver:	n/a
14	chr6:66011288-66011338	HCT-116	colon:	n/a
15	chr6:66011288-66011338	GM12892	blood:	n/a
16	chr6:66010172-66010222	ovcar-3	ovarian:	n/a
17	chr6:66013901-66013951	T-47D	breast:	n/a
18	chr6:66010172-66010222	GM06990	blood:	n/a
19	chr6:66011626-66011676	U87	brain:	n/a
20	chr6:66011626-66011676	GM19239	blood:	n/a
21	chr6:66013901-66013951	NB4	blood:	n/a
22	chr6:66013901-66013951	U87	brain:	n/a
23	chr6:66011626-66011676	PFSK-1	brain:	n/a
24	chr6:66010172-66010222	GM12892	blood:	n/a
25	chr6:66010172-66010222	HEEpiC	esophagus:	n/a
26	chr6:66010172-66010222	HNPCEpiC	eye:	n/a
27	chr6:66010172-66010222	ECC-1	luminal epithelium:	n/a
28	chr6:66011626-66011676	LNCaP	prostate:	n/a
29	chr6:66013901-66013951	PrEC	prostate:	n/a
30	chr6:66013901-66013951	MCF-7	breast:	n/a
31	chr6:66011626-66011676	AG09319	gingival:	n/a
32	chr6:66011626-66011676	Jurkat	blood:	n/a
33	chr6:66011288-66011338	AG04450	lung:	fetal
34	chr6:66010172-66010222	HRE	kidney:	n/a
35	chr6:66010172-66010222	BE2_C	brain:	n/a
36	chr6:66011288-66011338	PANC-1	pancreas:	n/a
37	chr6:66011288-66011338	ovcar-3	ovarian:	n/a
38	chr6:66013901-66013951	GM12892	blood:	n/a
39	chr6:66011626-66011676	HCM	heart:	n/a
40	chr6:66011288-66011338	HEEpiC	esophagus:	n/a
41	chr6:66011288-66011338	SK-N-SH	brain:	n/a
42	chr6:66010172-66010222	SKMC	muscle:	n/a
43	chr6:66013901-66013951	HCM	heart:	n/a
44	chr6:66010172-66010222	NH-A	brain:	n/a
45	chr6:66013901-66013951	A549	lung:	n/a
46	chr6:66010172-66010222	MCF10A-Er-Src	breast:	n/a
47	chr6:66011626-66011676	NH-A	brain:	n/a
48	chr6:66011626-66011676	NB4	blood:	n/a
49	chr6:66010172-66010222	Hela-S3	cervix:	n/a
50	chr6:66010172-66010222	ProgFib	skin:	n/a

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

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

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: 228 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145705429	chr6:66007612-66007613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138875998	chr6:66007631-66007632	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2055502	chr6:66007637-66007638	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374912519	chr6:66007665-66007666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537524712	chr6:66007697-66007698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77881456	chr6:66007706-66007707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75218523	chr6:66007708-66007709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561820922	chr6:66007748-66007749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191759807	chr6:66007759-66007760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1890494	chr6:66007775-66007776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567307983	chr6:66007779-66007780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564554274	chr6:66007818-66007819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183586881	chr6:66007829-66007830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115978038	chr6:66007831-66007832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547107225	chr6:66007844-66007845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58454706	chr6:66007887-66007888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551727992	chr6:66007919-66007920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112165486	chr6:66007954-66007955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147037224	chr6:66007959-66007960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13217099	chr6:66007991-66007992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116694741	chr6:66007998-66007999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538975725	chr6:66008066-66008067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558161287	chr6:66008084-66008085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188930989	chr6:66008097-66008098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138170206	chr6:66008177-66008178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552897635	chr6:66008178-66008179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572856246	chr6:66008188-66008189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115523424	chr6:66008200-66008201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575762163	chr6:66008201-66008202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375555646	chr6:66008206-66008207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555644801	chr6:66008214-66008215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9363341	chr6:66008233-66008234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115551364	chr6:66008253-66008254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564209830	chr6:66008276-66008277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1466908	chr6:66008335-66008336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573674490	chr6:66008356-66008357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540290684	chr6:66008363-66008364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560449131	chr6:66008364-66008365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192588137	chr6:66008365-66008366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145918489	chr6:66008412-66008413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35149364	chr6:66008443-66008444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148253478	chr6:66008451-66008452	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530499142	chr6:66008468-66008469	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs182104760	chr6:66008490-66008491	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs141194361	chr6:66008494-66008495	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377321271	chr6:66008496-66008497	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186828721	chr6:66008563-66008564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546289336	chr6:66008608-66008609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566468834	chr6:66008677-66008678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35977747	chr6:66008756-66008757	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66007600-66009400	Enhancers	HUVEC	blood vessel
2	chr6:66028600-66028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:66045000-66045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:66061400-66062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:66061600-66061800	Enhancers	Fetal Lung	lung

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