Variant report

Variant	nsv981155
Chromosome Location	chr6:66011313-66035737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:66033875-66033906	MCF-7	breast:	n/a	n/a
2	CTCF	chr6:66012277-66012341	Lung_OC	lung:	n/a	n/a
3	CTCF	chr6:66034816-66034887	Lung_OC	lung:	n/a	n/a
4	CTCF	chr6:66028325-66028381	GM13976	blood:	n/a	n/a
5	GABPA	chr6:66011197-66011389	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr6:66011448-66011609	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr6:66011424-66011682	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr6:66011243-66011456	GM12878	blood:	n/a	n/a
9	HEY1	chr6:66011204-66011645	K562	blood:	n/a	n/a
10	HEY1	chr6:66011218-66011588	K562	blood:	n/a	n/a
11	HEY1	chr6:66011201-66011592	HepG2	liver:	n/a	n/a
12	HEY1	chr6:66020920-66021086	K562	blood:	n/a	n/a
13	HEY1	chr6:66020914-66021092	HepG2	liver:	n/a	n/a
14	HEY1	chr6:66020950-66021056	HepG2	liver:	n/a	n/a
15	HEY1	chr6:66011291-66011512	HepG2	liver:	n/a	n/a
16	JUND	chr6:66011285-66011442	HepG2	liver:	n/a	n/a
17	MAFF	chr6:66023847-66024047	HepG2	liver:	n/a	n/a
18	MAFK	chr6:66023859-66024027	IMR90	lung:	n/a	n/a
19	MAFK	chr6:66023835-66024051	HepG2	liver:	n/a	n/a
20	MAFK	chr6:66023862-66024048	HepG2	liver:	n/a	n/a
21	MYC	chr6:66031066-66031207	K562	blood:	n/a	n/a
22	POLR2A	chr6:66011188-66011520	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:66033500-66033549	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:66011520-66011554	A549	lung:	n/a	n/a
25	POLR2A	chr6:66023599-66023710	ProgFib	skin:	n/a	n/a
26	POLR2A	chr6:66020958-66021048	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:66020946-66021060	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:66011244-66011493	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:66032708-66032755	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:66020944-66021062	GM12891	blood:	n/a	n/a
31	POLR2A	chr6:66020834-66021102	GM12891	blood:	n/a	n/a
32	POLR2A	chr6:66011211-66011596	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:66020950-66021063	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr6:66030322-66030351	Gliobla	brain:	n/a	n/a
35	POLR2A	chr6:66011285-66011474	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:66033715-66033746	ProgFib	skin:	n/a	n/a
37	POLR2A	chr6:66011488-66011512	A549	lung:	n/a	n/a
38	POLR2A	chr6:66011279-66011573	GM12891	blood:	n/a	n/a
39	POLR2A	chr6:66033467-66033471	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:66030680-66030795	A549	lung:	n/a	n/a
41	POLR2A	chr6:66022941-66023008	Gliobla	brain:	n/a	n/a
42	POLR2A	chr6:66033553-66033626	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:66011228-66011621	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:66011247-66011486	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:66011230-66011530	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:66011127-66011642	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr6:66022936-66023339	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:66020940-66021066	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:66011240-66011492	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:66011270-66011527	PFSK-1	brain:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66011626-66011676	HCPEpiC	choroid plexus:	n/a
2	chr6:66011626-66011676	HCPEpiC	choroid plexus:	n/a
3	chr6:66011626-66011676	SK-N-SH	brain:	n/a
4	chr6:66011626-66011676	SKMC	muscle:	n/a
5	chr6:66013901-66013951	HEK293	kidney:	embryo
6	chr6:66013901-66013951	HEEpiC	esophagus:	n/a
7	chr6:66013901-66013951	ovcar-3	ovarian:	n/a
8	chr6:66011626-66011676	PFSK-1	brain:	n/a
9	chr6:66013901-66013951	Jurkat	blood:	n/a
10	chr6:66011626-66011676	GM19239	blood:	n/a
11	chr6:66013901-66013951	AoSMC	blood vessel:	n/a
12	chr6:66011626-66011676	ProgFib	skin:	n/a
13	chr6:66013901-66013951	Hela-S3	cervix:	n/a
14	chr6:66011626-66011676	MCF10A-Er-Src	breast:	n/a
15	chr6:66013901-66013951	SK-N-SH	brain:	n/a
16	chr6:66011626-66011676	NHBE	bronchial:	n/a
17	chr6:66011288-66011338	ovcar-3	ovarian:	n/a
18	chr6:66011288-66011338	GM12892	blood:	n/a
19	chr6:66011626-66011676	GM12891	blood:	n/a
20	chr6:66011288-66011338	ProgFib	skin:	n/a
21	chr6:66013901-66013951	H1-hESC	embryonic stem cell:	embryo
22	chr6:66011626-66011676	HepG2	liver:	n/a
23	chr6:66011626-66011676	HL-60	blood:	n/a
24	chr6:66011288-66011338	HCF	heart:	n/a
25	chr6:66011288-66011338	HIPEpiC	eye:	n/a
26	chr6:66011288-66011338	SK-N-SH_RA	brain:	n/a
27	chr6:66011288-66011338	AG04449	skin:	fetal
28	chr6:66011626-66011676	AG04450	lung:	fetal
29	chr6:66011288-66011338	GM19239	blood:	n/a
30	chr6:66011288-66011338	HepG2	liver:	n/a
31	chr6:66011626-66011676	BE2_C	brain:	n/a
32	chr6:66013901-66013951	SK-N-MC	brain:	n/a
33	chr6:66011288-66011338	HCT-116	colon:	n/a
34	chr6:66011626-66011676	Jurkat	blood:	n/a
35	chr6:66011288-66011338	A549	lung:	n/a
36	chr6:66011626-66011676	U87	brain:	n/a
37	chr6:66011288-66011338	HCPEpiC	choroid plexus:	n/a
38	chr6:66013901-66013951	MCF-7	breast:	n/a
39	chr6:66011626-66011676	NH-A	brain:	n/a
40	chr6:66011288-66011338	PrEC	prostate:	n/a
41	chr6:66011288-66011338	HNPCEpiC	eye:	n/a
42	chr6:66011288-66011338	HUVEC	blood vessel:	n/a
43	chr6:66013901-66013951	HIPEpiC	eye:	n/a
44	chr6:66011626-66011676	SAEC	small airway:	n/a
45	chr6:66011288-66011338	CMK	blood:	n/a
46	chr6:66011288-66011338	HRPEpiC	eye:	n/a
47	chr6:66013901-66013951	BE2_C	brain:	n/a
48	chr6:66011288-66011338	BJ	skin:	n/a
49	chr6:66013901-66013951	LNCaP	prostate:	n/a
50	chr6:66011626-66011676	HIPEpiC	eye:	n/a

No data

(count:2 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 47 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544155546	chr6:66011322-66011323	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs563991876	chr6:66011340-66011341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs577428484	chr6:66011376-66011377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148781717	chr6:66011416-66011417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564677880	chr6:66011452-66011453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527393114	chr6:66011453-66011454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547088043	chr6:66011498-66011499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560778968	chr6:66011513-66011514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529826604	chr6:66011531-66011532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549534237	chr6:66011539-66011540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569955204	chr6:66011542-66011543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187998922	chr6:66011565-66011566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs189776363	chr6:66011597-66011598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182623891	chr6:66011619-66011620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200394444	chr6:66011660-66011661	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs139311129	chr6:66011683-66011684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs188139964	chr6:66011689-66011690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555077089	chr6:66011702-66011703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs71521194	chr6:66012027-66012028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546138462	chr6:66012028-66012029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564933635	chr6:66012129-66012130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571687661	chr6:66012131-66012132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs3864288	chr6:66012134-66012135	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201544811	chr6:66012165-66012166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185117479	chr6:66012168-66012169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532479457	chr6:66012316-66012317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs552187362	chr6:66012332-66012333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs553375748	chr6:66012712-66012713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs573167545	chr6:66012806-66012807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs540647717	chr6:66012818-66012819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs554100267	chr6:66012820-66012821	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs574207430	chr6:66012915-66012916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs556763617	chr6:66013901-66013902	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs138546306	chr6:66013942-66013943	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs143051215	chr6:66013945-66013946	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs570878541	chr6:66014236-66014237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533418874	chr6:66014245-66014246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs28602178	chr6:66028604-66028605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28578179	chr6:66028605-66028606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557155193	chr6:66028650-66028651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28845468	chr6:66028653-66028654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193254018	chr6:66028723-66028724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549955768	chr6:66028728-66028729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182111542	chr6:66028745-66028746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568285903	chr6:66028751-66028752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577253219	chr6:66028760-66028761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546119278	chr6:66028777-66028778	Enhancers	n/a	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66028600-66028800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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