Variant report

Variant	nsv603440
Chromosome Location	chr6:66137260-66214813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:66171007-66171493	K562	blood:	n/a	n/a
2	ATF1	chr6:66160376-66160599	K562	blood:	n/a	n/a
3	CBX3	chr6:66193565-66193851	K562	blood:	n/a	n/a
4	CCNT2	chr6:66139022-66139218	K562	blood:	n/a	n/a
5	CCNT2	chr6:66171045-66171349	K562	blood:	n/a	n/a
6	CEBPB	chr6:66156810-66157084	K562	blood:	n/a	n/a
7	CEBPB	chr6:66192989-66193263	HepG2	liver:	n/a	chr6:66193166-66193179 chr6:66193107-66193120 chr6:66193107-66193118
8	CEBPB	chr6:66143961-66144277	HepG2	liver:	n/a	n/a
9	CEBPB	chr6:66156754-66157125	HepG2	liver:	n/a	chr6:66157101-66157114
10	CEBPB	chr6:66138219-66138426	HepG2	liver:	n/a	chr6:66138267-66138278
11	CEBPB	chr6:66195051-66195251	IMR90	lung:	n/a	n/a
12	CEBPD	chr6:66171023-66171458	K562	blood:	n/a	n/a
13	CTCF	chr6:66157678-66157758	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr6:66201727-66201746	GM13977	blood:	n/a	n/a
15	CTCF	chr6:66157644-66157761	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:66157620-66157770	Caco-2	colon:	n/a	n/a
17	CTCF	chr6:66157640-66157790	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr6:66157600-66157750	BE2_C	brain:	n/a	n/a
19	CTCF	chr6:66157560-66157710	BE2_C	brain:	n/a	n/a
20	CTCF	chr6:66157626-66157803	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:66157500-66157650	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:66157771-66157802	LNCaP	prostate:	n/a	n/a
23	CTCF	chr6:66157620-66157770	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr6:66157563-66157836	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:66157720-66157870	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:66157717-66157767	LNCaP	prostate:	n/a	n/a
27	CTCF	chr6:66157685-66157759	LNCaP	prostate:	n/a	n/a
28	CUX1	chr6:66170915-66171409	K562	blood:	n/a	n/a
29	CUX1	chr6:66138046-66138073	GM12878	blood:	n/a	n/a
30	E2F4	chr6:66196398-66196435	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr6:66171008-66171473	K562	blood:	n/a	n/a
32	EP300	chr6:66151712-66151970	K562	blood:	n/a	chr6:66151772-66151779
33	EP300	chr6:66205017-66205334	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr6:66204811-66205276	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr6:66205564-66205867	SK-N-SH_RA	brain:	n/a	n/a
36	FOS	chr6:66171113-66171444	HUVEC	blood vessel:	n/a	chr6:66171237-66171248
37	FOS	chr6:66157529-66157688	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:66170472-66170571	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:66157443-66157925	HUVEC	blood vessel:	n/a	n/a
40	FOXA2	chr6:66210562-66210796	HepG2	liver:	n/a	chr6:66210677-66210689
41	GATA2	chr6:66158889-66159302	HUVEC	blood vessel:	n/a	chr6:66159128-66159138
42	GATA2	chr6:66171014-66171441	K562	blood:	n/a	n/a
43	GATA2	chr6:66157439-66157874	HUVEC	blood vessel:	n/a	n/a
44	GATA3	chr6:66164884-66165004	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr6:66203221-66203445	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr6:66207255-66207455	SH-SY5Y	brain:	n/a	chr6:66207431-66207452 chr6:66207433-66207449 chr6:66207436-66207445 chr6:66207438-66207448
47	GATA3	chr6:66205806-66205863	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr6:66205112-66205333	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr6:66149491-66149982	MCF-7	breast:	n/a	chr6:66149783-66149792
50	GATA3	chr6:66156138-66156735	MCF-7	breast:	n/a	chr6:66156466-66156477

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66205227-66205277	IMR90	lung:	fetal
2	chr6:66207286-66207336	SKMC	muscle:	n/a
3	chr6:66207286-66207336	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:66205227-66205277	HL-60	blood:	n/a
5	chr6:66207286-66207336	NH-A	brain:	n/a
6	chr6:66205227-66205277	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:66205227-66205277	K562	blood:	n/a
8	chr6:66207286-66207336	SAEC	small airway:	n/a
9	chr6:66205227-66205277	GM12892	blood:	n/a
10	chr6:66205227-66205277	RPTEC	kidney:	n/a
11	chr6:66205227-66205277	HIPEpiC	eye:	n/a
12	chr6:66205227-66205277	HEEpiC	esophagus:	n/a
13	chr6:66207286-66207336	HUVEC	blood vessel:	n/a
14	chr6:66207286-66207336	AoSMC	blood vessel:	n/a
15	chr6:66207286-66207336	AG10803	skin:	n/a
16	chr6:66205227-66205277	NH-A	brain:	n/a
17	chr6:66207286-66207336	ECC-1	luminal epithelium:	n/a
18	chr6:66205227-66205277	Caco-2	colon:	n/a
19	chr6:66207286-66207336	HEEpiC	esophagus:	n/a
20	chr6:66205227-66205277	AG09319	gingival:	n/a
21	chr6:66207286-66207336	H1-hESC	embryonic stem cell:	embryo
22	chr6:66205227-66205277	Jurkat	blood:	n/a
23	chr6:66207286-66207336	GM12892	blood:	n/a
24	chr6:66207286-66207336	RPTEC	kidney:	n/a
25	chr6:66205227-66205277	AoSMC	blood vessel:	n/a
26	chr6:66205227-66205277	PrEC	prostate:	n/a
27	chr6:66207286-66207336	SK-N-MC	brain:	n/a
28	chr6:66207286-66207336	IMR90	lung:	fetal
29	chr6:66207286-66207336	HCM	heart:	n/a
30	chr6:66207286-66207336	SK-N-SH_RA	brain:	n/a
31	chr6:66205227-66205277	CMK	blood:	n/a
32	chr6:66207286-66207336	GM19239	blood:	n/a
33	chr6:66207286-66207336	K562	blood:	n/a
34	chr6:66205227-66205277	HepG2	liver:	n/a
35	chr6:66205227-66205277	BE2_C	brain:	n/a
36	chr6:66205227-66205277	HRCEpiC	kidney:	n/a
37	chr6:66205227-66205277	HUVEC	blood vessel:	n/a
38	chr6:66207286-66207336	PANC-1	pancreas:	n/a
39	chr6:66207286-66207336	MCF-7	breast:	n/a
40	chr6:66207286-66207336	T-47D	breast:	n/a
41	chr6:66205227-66205277	PANC-1	pancreas:	n/a
42	chr6:66205227-66205277	SK-N-MC	brain:	n/a
43	chr6:66205227-66205277	GM06990	blood:	n/a
44	chr6:66207286-66207336	PFSK-1	brain:	n/a
45	chr6:66205227-66205277	LNCaP	prostate:	n/a
46	chr6:66207286-66207336	Caco-2	colon:	n/a
47	chr6:66207286-66207336	CMK	blood:	n/a
48	chr6:66207286-66207336	ProgFib	skin:	n/a
49	chr6:66207286-66207336	Hepatocyte	liver:	n/a
50	chr6:66205227-66205277	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:66205424..66207848-chr6:66208785..66211406,2	K562	blood:
2	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:
3	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-7	chr6:66205752-66205886	NONHSAT113373
2	lnc-PHF3-3	chr6:66191208-66191429	ENSG00000230672.1
3	lnc-PHF3-3	chr6:66191784-66191981	ENSG00000230672.1
4	lnc-LGSN-7	chr6:66199254-66200600	NONHSAT113373
5	lnc-LGSN-7	chr6:66204556-66205500	NONHSAT113373

No data

Variant related genes	Relation type
ENSG00000265187	TF binding region
EYS	TF binding region
ENSG00000265187	CpG island
EYS	CpG island
ENSG00000188107	chromatin interactions

Extended variants
information (count: 593 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553577117	chr6:66155820-66155821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187482552	chr6:66155854-66155855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192916680	chr6:66155856-66155857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562280195	chr6:66155918-66155919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13206280	chr6:66155920-66155921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531113286	chr6:66155932-66155933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185487343	chr6:66155969-66155970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4295459	chr6:66155976-66155977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569698368	chr6:66156040-66156041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532254266	chr6:66156045-66156046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552154617	chr6:66156128-66156129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565677221	chr6:66156164-66156165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115393616	chr6:66156179-66156180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190473137	chr6:66156210-66156211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116316240	chr6:66156213-66156214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568289855	chr6:66156226-66156227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145609114	chr6:66156229-66156230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147747308	chr6:66156230-66156231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115756809	chr6:66156252-66156253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192585962	chr6:66156349-66156350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545891785	chr6:66156415-66156416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553094616	chr6:66156442-66156443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370995492	chr6:66156475-66156476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572887431	chr6:66156502-66156503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148760566	chr6:66156504-66156505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531035740	chr6:66156523-66156524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183575215	chr6:66156546-66156547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544750356	chr6:66156645-66156646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116670356	chr6:66156664-66156665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188259011	chr6:66156678-66156679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150019227	chr6:66156712-66156713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67497424	chr6:66156713-66156714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200875252	chr6:66156715-66156716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372878519	chr6:66156716-66156717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9363360	chr6:66156724-66156725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552292607	chr6:66156744-66156745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145137632	chr6:66156754-66156755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71743128	chr6:66156755-66156756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145134290	chr6:66156757-66156758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374288303	chr6:66156770-66156771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528068451	chr6:66156775-66156776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12215670	chr6:66156792-66156793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181170718	chr6:66156804-66156805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142416844	chr6:66156812-66156813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557272399	chr6:66156843-66156844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12196989	chr6:66156877-66156878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12196990	chr6:66156878-66156879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs553029021	chr6:66156880-66156881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573023628	chr6:66156896-66156897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9345629	chr6:66156901-66156902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66155800-66156400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:66156400-66158600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:66157000-66160800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:66157400-66158200	Enhancers	Brain Cingulate Gyrus	brain
5	chr6:66157400-66160600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:66157600-66158200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:66157600-66158400	Enhancers	Brain Substantia Nigra	brain
8	chr6:66157600-66160600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:66157600-66160600	Enhancers	Brain Hippocampus Middle	brain
10	chr6:66157800-66160400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:66157800-66160600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:66158000-66160800	Enhancers	Fetal Brain Male	brain
13	chr6:66158200-66158400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:66158200-66160400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr6:66158400-66158600	Weak transcription	Brain Substantia Nigra	brain
16	chr6:66158600-66159000	Active TSS	Brain Substantia Nigra	brain
17	chr6:66158600-66160000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:66158800-66159200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:66158800-66159200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:66158800-66159200	Enhancers	Brain Germinal Matrix	brain
21	chr6:66159200-66160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:66159200-66160200	Weak transcription	Brain Germinal Matrix	brain
23	chr6:66159600-66159800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:66160200-66160400	Enhancers	Brain Germinal Matrix	brain
25	chr6:66160200-66160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:66160200-66160800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:66160400-66160800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:66160600-66160800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:66170400-66171400	Enhancers	K562	blood
30	chr6:66171000-66171400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:66171000-66171600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:66171000-66171600	Enhancers	Fetal Heart	heart
33	chr6:66175000-66175400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr6:66210400-66211000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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