Variant report

Variant	nsv886018
Chromosome Location	chr6:66009103-66091351
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	chr6:66064245-66064517	Hela-S3	cervix:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
4	CEBPB	chr6:66010691-66010956	K562	blood:	n/a	chr6:66010782-66010793
5	CEBPB	chr6:66037851-66038095	A549	lung:	n/a	chr6:66037990-66038001
6	CEBPB	chr6:66010679-66010939	K562	blood:	n/a	chr6:66010782-66010793
7	CEBPB	chr6:66037858-66038164	HepG2	liver:	n/a	chr6:66037990-66038001
8	CEBPB	chr6:66064204-66064473	IMR90	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
9	CEBPB	chr6:66010665-66010970	HepG2	liver:	n/a	chr6:66010782-66010793
10	CEBPB	chr6:66064211-66064491	A549	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
11	CEBPB	chr6:66064262-66064425	K562	blood:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
12	CEBPB	chr6:66037840-66038160	IMR90	lung:	n/a	chr6:66037990-66038001
13	CEBPB	chr6:66064192-66064538	HepG2	liver:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
14	CEBPB	chr6:66064226-66064435	H1-hESC	embryonic stem cell:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
15	CEBPB	chr6:66066493-66066779	HepG2	liver:	n/a	chr6:66066621-66066632
16	CEBPD	chr6:66076790-66077115	K562	blood:	n/a	n/a
17	CTCF	chr6:66034816-66034887	Lung_OC	lung:	n/a	n/a
18	CTCF	chr6:66073240-66073390	AG09319	gingival:	n/a	n/a
19	CTCF	chr6:66045931-66045981	ProgFib	skin:	n/a	n/a
20	CTCF	chr6:66046021-66046070	GM20000	blood:	n/a	n/a
21	CTCF	chr6:66060640-66060910	HepG2	liver:	n/a	n/a
22	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:66046014-66046020	GM20000	blood:	n/a	n/a
24	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
25	CTCF	chr6:66012277-66012341	Lung_OC	lung:	n/a	n/a
26	CTCF	chr6:66037034-66037060	GM13976	blood:	n/a	n/a
27	E2F4	chr6:66076511-66076861	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr6:66010775-66010842	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr6:66050212-66050227	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:66062410-66062703	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
31	FOS	chr6:66064253-66064452	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
32	FOS	chr6:66062459-66062747	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
33	FOS	chr6:66036190-66036524	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:66036190-66036525	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:66062409-66062725	MCF10A-Er-Src	breast:	n/a	chr6:66062561-66062570 chr6:66062561-66062568
36	FOS	chr6:66064328-66064453	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
37	FOS	chr6:66064258-66064458	MCF10A-Er-Src	breast:	n/a	chr6:66064387-66064398
38	FOS	chr6:66036323-66036530	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr6:66036194-66036523	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr6:66036191-66036538	MCF10A-Er-Src	breast:	n/a	n/a
41	FOXA1	chr6:66049552-66049843	T-47D	breast:	n/a	n/a
42	FOXA1	chr6:66049429-66049831	HepG2	liver:	n/a	n/a
43	FOXA1	chr6:66049432-66049887	HepG2	liver:	n/a	n/a
44	FOXA1	chr6:66049483-66049865	HepG2	liver:	n/a	n/a
45	GABPA	chr6:66011243-66011456	GM12878	blood:	n/a	n/a
46	GABPA	chr6:66011424-66011682	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr6:66011197-66011389	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr6:66011448-66011609	Hela-S3	cervix:	n/a	n/a
49	GATA2	chr6:66009188-66009446	HUVEC	blood vessel:	n/a	n/a
50	GATA3	chr6:66076763-66077218	SH-SY5Y	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66011626-66011676	HepG2	liver:	n/a
2	chr6:66011626-66011676	HepG2	liver:	n/a
3	chr6:66013901-66013951	Jurkat	blood:	n/a
4	chr6:66011626-66011676	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:66011626-66011676	NHBE	bronchial:	n/a
6	chr6:66011626-66011676	HCF	heart:	n/a
7	chr6:66011626-66011676	HNPCEpiC	eye:	n/a
8	chr6:66010172-66010222	GM12878	blood:	n/a
9	chr6:66013901-66013951	K562	blood:	n/a
10	chr6:66013901-66013951	PFSK-1	brain:	n/a
11	chr6:66013901-66013951	SK-N-MC	brain:	n/a
12	chr6:66011626-66011676	HMEC	breast:	n/a
13	chr6:66010172-66010222	PFSK-1	brain:	n/a
14	chr6:66011288-66011338	GM12892	blood:	n/a
15	chr6:66013901-66013951	A549	lung:	n/a
16	chr6:66010172-66010222	HUVEC	blood vessel:	n/a
17	chr6:66010172-66010222	AG04450	lung:	fetal
18	chr6:66013901-66013951	HL-60	blood:	n/a
19	chr6:66013901-66013951	RPTEC	kidney:	n/a
20	chr6:66011288-66011338	RPTEC	kidney:	n/a
21	chr6:66011626-66011676	HEK293	kidney:	embryo
22	chr6:66010172-66010222	HAEpiC	amniotic membrane:	n/a
23	chr6:66011626-66011676	GM06990	blood:	n/a
24	chr6:66011288-66011338	SK-N-MC	brain:	n/a
25	chr6:66011288-66011338	Hepatocyte	liver:	n/a
26	chr6:66011626-66011676	AG10803	skin:	n/a
27	chr6:66011626-66011676	HRCEpiC	kidney:	n/a
28	chr6:66011288-66011338	HRPEpiC	eye:	n/a
29	chr6:66011626-66011676	SK-N-MC	brain:	n/a
30	chr6:66011288-66011338	H1-hESC	embryonic stem cell:	embryo
31	chr6:66010172-66010222	Hepatocyte	liver:	n/a
32	chr6:66013901-66013951	AG09309	skin:	n/a
33	chr6:66010172-66010222	SK-N-MC	brain:	n/a
34	chr6:66013901-66013951	HRPEpiC	eye:	n/a
35	chr6:66011288-66011338	K562	blood:	n/a
36	chr6:66011626-66011676	BE2_C	brain:	n/a
37	chr6:66010172-66010222	HMEC	breast:	n/a
38	chr6:66013901-66013951	HRCEpiC	kidney:	n/a
39	chr6:66010172-66010222	BE2_C	brain:	n/a
40	chr6:66011288-66011338	PrEC	prostate:	n/a
41	chr6:66013901-66013951	GM19239	blood:	n/a
42	chr6:66010172-66010222	AG09319	gingival:	n/a
43	chr6:66010172-66010222	SAEC	small airway:	n/a
44	chr6:66011288-66011338	HIPEpiC	eye:	n/a
45	chr6:66010172-66010222	Hela-S3	cervix:	n/a
46	chr6:66010172-66010222	U87	brain:	n/a
47	chr6:66011626-66011676	LNCaP	prostate:	n/a
48	chr6:66011626-66011676	PFSK-1	brain:	n/a
49	chr6:66013901-66013951	GM06990	blood:	n/a
50	chr6:66010172-66010222	MCF10A-Er-Src	breast:	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	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:
4	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
5	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
6	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-6	chr6:66012701-66012904	NONHSAT113369
2	lnc-LGSN-6	chr6:66012701-66012830	NONHSAT113370
3	lnc-LGSN-6	chr6:66010740-66010831	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
ENSG00000214558	TF binding region
EYS	TF binding region
ENSG00000214558	CpG island
EYS	CpG island

Extended variants
information (count: 217 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs201855058	chr6:66009103-66009104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562625054	chr6:66009142-66009143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368749338	chr6:66009179-66009180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531656818	chr6:66009180-66009181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567469344	chr6:66009212-66009213	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575652109	chr6:66009247-66009248	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184802234	chr6:66009300-66009301	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551703158	chr6:66009302-66009303	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189726301	chr6:66009303-66009304	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs113766825	chr6:66009304-66009305	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371637453	chr6:66009306-66009307	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548069310	chr6:66009337-66009338	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566504453	chr6:66009372-66009373	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115704558	chr6:66009383-66009384	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560833591	chr6:66010173-66010174	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs191247105	chr6:66010219-66010220	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs552905887	chr6:66010693-66010694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544117004	chr6:66010747-66010748	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs190880271	chr6:66010755-66010756	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs80057634	chr6:66010786-66010787	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs529649485	chr6:66010790-66010791	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs571332592	chr6:66010826-66010827	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs545272857	chr6:66010877-66010878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs527366211	chr6:66010910-66010911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563462517	chr6:66010937-66010938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547190152	chr6:66010965-66010966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183342788	chr6:66011099-66011100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs569447015	chr6:66011147-66011148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539042510	chr6:66011155-66011156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs60158763	chr6:66011158-66011159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572506072	chr6:66011171-66011172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535082113	chr6:66011183-66011184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs555244734	chr6:66011290-66011291	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs575082713	chr6:66011298-66011299	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs544155546	chr6:66011322-66011323	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs563991876	chr6:66011340-66011341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs577428484	chr6:66011376-66011377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs148781717	chr6:66011416-66011417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs564677880	chr6:66011452-66011453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs527393114	chr6:66011453-66011454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547088043	chr6:66011498-66011499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs560778968	chr6:66011513-66011514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs529826604	chr6:66011531-66011532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549534237	chr6:66011539-66011540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569955204	chr6:66011542-66011543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187998922	chr6:66011565-66011566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs189776363	chr6:66011597-66011598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs182623891	chr6:66011619-66011620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200394444	chr6:66011660-66011661	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs139311129	chr6:66011683-66011684	Inactive region	TF binding region	1 gene(s)	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:6 , 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

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