Variant report

Variant	nsv886016
Chromosome Location	chr6:66002389-66103595
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	CCNT2	chr6:66100608-66100682	K562	blood:	n/a	n/a
4	CEBPB	chr6:66064226-66064435	H1-hESC	embryonic stem cell:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
5	CEBPB	chr6:66066493-66066779	HepG2	liver:	n/a	chr6:66066621-66066632
6	CEBPB	chr6:66064211-66064491	A549	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
7	CEBPB	chr6:66037840-66038160	IMR90	lung:	n/a	chr6:66037990-66038001
8	CEBPB	chr6:66064192-66064538	HepG2	liver:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
9	CEBPB	chr6:66037858-66038164	HepG2	liver:	n/a	chr6:66037990-66038001
10	CEBPB	chr6:66064204-66064473	IMR90	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
11	CEBPB	chr6:66037851-66038095	A549	lung:	n/a	chr6:66037990-66038001
12	CEBPB	chr6:66064245-66064517	Hela-S3	cervix:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
13	CEBPB	chr6:66010679-66010939	K562	blood:	n/a	chr6:66010782-66010793
14	CEBPB	chr6:66010691-66010956	K562	blood:	n/a	chr6:66010782-66010793
15	CEBPB	chr6:66064262-66064425	K562	blood:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
16	CEBPB	chr6:66010665-66010970	HepG2	liver:	n/a	chr6:66010782-66010793
17	CEBPD	chr6:66076790-66077115	K562	blood:	n/a	n/a
18	CTCF	chr6:66046021-66046070	GM20000	blood:	n/a	n/a
19	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
20	CTCF	chr6:66037034-66037060	GM13976	blood:	n/a	n/a
21	CTCF	chr6:66046014-66046020	GM20000	blood:	n/a	n/a
22	CTCF	chr6:66034816-66034887	Lung_OC	lung:	n/a	n/a
23	CTCF	chr6:66060640-66060910	HepG2	liver:	n/a	n/a
24	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:66073240-66073390	AG09319	gingival:	n/a	n/a
26	CTCF	chr6:66012277-66012341	Lung_OC	lung:	n/a	n/a
27	CTCF	chr6:66045931-66045981	ProgFib	skin:	n/a	n/a
28	E2F4	chr6:66050212-66050227	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr6:66010775-66010842	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr6:66076511-66076861	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr6:66062459-66062747	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
32	FOS	chr6:66064328-66064453	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
33	FOS	chr6:66062409-66062725	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	chr6:66036194-66036523	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:66064258-66064458	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
37	FOS	chr6:66036190-66036525	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:66064253-66064452	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
39	FOS	chr6:66036191-66036538	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr6:66062410-66062703	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
41	FOS	chr6:66036323-66036530	HUVEC	blood vessel:	n/a	n/a
42	FOXA1	chr6:66049432-66049887	HepG2	liver:	n/a	n/a
43	FOXA1	chr6:66049429-66049831	HepG2	liver:	n/a	n/a
44	FOXA1	chr6:66049552-66049843	T-47D	breast:	n/a	n/a
45	FOXA1	chr6:66049483-66049865	HepG2	liver:	n/a	n/a
46	GABPA	chr6:66011424-66011682	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr6:66011448-66011609	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr6:66011197-66011389	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr6:66011243-66011456	GM12878	blood:	n/a	n/a
50	GATA2	chr6:66009188-66009446	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66010172-66010222	HEEpiC	esophagus:	n/a
2	chr6:66010172-66010222	GM12891	blood:	n/a
3	chr6:66011626-66011676	A549	lung:	n/a
4	chr6:66010172-66010222	HIPEpiC	eye:	n/a
5	chr6:66010172-66010222	HRPEpiC	eye:	n/a
6	chr6:66013901-66013951	HCPEpiC	choroid plexus:	n/a
7	chr6:66013901-66013951	AG09309	skin:	n/a
8	chr6:66013901-66013951	U87	brain:	n/a
9	chr6:66011626-66011676	HRCEpiC	kidney:	n/a
10	chr6:66011626-66011676	NT2-D1	testis:	n/a
11	chr6:66013901-66013951	H1-hESC	embryonic stem cell:	embryo
12	chr6:66011288-66011338	HEEpiC	esophagus:	n/a
13	chr6:66013901-66013951	PFSK-1	brain:	n/a
14	chr6:66013901-66013951	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:66011626-66011676	HRPEpiC	eye:	n/a
16	chr6:66013901-66013951	ProgFib	skin:	n/a
17	chr6:66013901-66013951	NH-A	brain:	n/a
18	chr6:66010172-66010222	SK-N-MC	brain:	n/a
19	chr6:66011288-66011338	SAEC	small airway:	n/a
20	chr6:66011288-66011338	AG04449	skin:	fetal
21	chr6:66011288-66011338	NHBE	bronchial:	n/a
22	chr6:66010172-66010222	H1-hESC	embryonic stem cell:	embryo
23	chr6:66011288-66011338	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:66010172-66010222	LNCaP	prostate:	n/a
25	chr6:66013901-66013951	NHBE	bronchial:	n/a
26	chr6:66011626-66011676	H1-hESC	embryonic stem cell:	embryo
27	chr6:66013901-66013951	Jurkat	blood:	n/a
28	chr6:66013901-66013951	HepG2	liver:	n/a
29	chr6:66011288-66011338	ECC-1	luminal epithelium:	n/a
30	chr6:66011288-66011338	SK-N-SH_RA	brain:	n/a
31	chr6:66011626-66011676	HAEpiC	amniotic membrane:	n/a
32	chr6:66010172-66010222	A549	lung:	n/a
33	chr6:66011288-66011338	Jurkat	blood:	n/a
34	chr6:66011288-66011338	K562	blood:	n/a
35	chr6:66010172-66010222	CMK	blood:	n/a
36	chr6:66010172-66010222	Hepatocyte	liver:	n/a
37	chr6:66010172-66010222	RPTEC	kidney:	n/a
38	chr6:66010172-66010222	ProgFib	skin:	n/a
39	chr6:66010172-66010222	GM12878	blood:	n/a
40	chr6:66013901-66013951	HMEC	breast:	n/a
41	chr6:66011626-66011676	NHBE	bronchial:	n/a
42	chr6:66011626-66011676	PFSK-1	brain:	n/a
43	chr6:66011626-66011676	ProgFib	skin:	n/a
44	chr6:66011288-66011338	GM19239	blood:	n/a
45	chr6:66011288-66011338	HepG2	liver:	n/a
46	chr6:66013901-66013951	HCM	heart:	n/a
47	chr6:66013901-66013951	BJ	skin:	n/a
48	chr6:66010172-66010222	IMR90	lung:	fetal
49	chr6:66010172-66010222	ovcar-3	ovarian:	n/a
50	chr6:66011626-66011676	IMR90	lung:	fetal

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	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
4	chr6:66097248..66097748-chr7:48217360..48217884,2	MCF-7	breast:
5	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:
6	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
7	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	chr6:66012701-66012830	NONHSAT113370
3	lnc-LGSN-6	chr6:66005650-66006012	NONHSAT113369
4	lnc-LGSN-6	chr6:66010740-66010831	NONHSAT113370
5	lnc-LGSN-6	chr6:66012701-66012904	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
ENSG00000214558	TF binding region
EYS	TF binding region
ENSG00000214558	CpG island
EYS	CpG island

Extended variants
information (count: 381 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:381 , 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	rs183853882	chr6:66005652-66005653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs541043938	chr6:66005658-66005659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560504874	chr6:66005667-66005668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs565171576	chr6:66005716-66005717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs567365942	chr6:66005740-66005741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs374955689	chr6:66005741-66005742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs397797960	chr6:66005749-66005750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs398110200	chr6:66005750-66005751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs549456693	chr6:66005779-66005780	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs144430026	chr6:66005794-66005795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565864295	chr6:66005829-66005830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs17411795	chr6:66005857-66005858	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373197894	chr6:66005880-66005881	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs9342464	chr6:66005888-66005889	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148411571	chr6:66005907-66005908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs548565748	chr6:66005908-66005909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142450703	chr6:66005927-66005928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs537580485	chr6:66005955-66005956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs9345601	chr6:66005970-66005971	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145705429	chr6:66007612-66007613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138875998	chr6:66007631-66007632	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2055502	chr6:66007637-66007638	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374912519	chr6:66007665-66007666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537524712	chr6:66007697-66007698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77881456	chr6:66007706-66007707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75218523	chr6:66007708-66007709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561820922	chr6:66007748-66007749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191759807	chr6:66007759-66007760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1890494	chr6:66007775-66007776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567307983	chr6:66007779-66007780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564554274	chr6:66007818-66007819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183586881	chr6:66007829-66007830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115978038	chr6:66007831-66007832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547107225	chr6:66007844-66007845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58454706	chr6:66007887-66007888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551727992	chr6:66007919-66007920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112165486	chr6:66007954-66007955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147037224	chr6:66007959-66007960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13217099	chr6:66007991-66007992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116694741	chr6:66007998-66007999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538975725	chr6:66008066-66008067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558161287	chr6:66008084-66008085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188930989	chr6:66008097-66008098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138170206	chr6:66008177-66008178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552897635	chr6:66008178-66008179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572856246	chr6:66008188-66008189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115523424	chr6:66008200-66008201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575762163	chr6:66008201-66008202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375555646	chr6:66008206-66008207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555644801	chr6:66008214-66008215	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Retinitis pigmentosa	21519034	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 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
6	chr6:66076000-66077200	Enhancers	Fetal Stomach	stomach
7	chr6:66095800-66097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:66096600-66097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:66099200-66099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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