Variant report

Variant	nsv886033
Chromosome Location	chr6:66420678-66506140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:488)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:66490606-66490975	HepG2	liver:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
2	CEBPB	chr6:66490610-66490962	A549	lung:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
3	CEBPB	chr6:66439123-66439443	HepG2	liver:	n/a	chr6:66439271-66439280 chr6:66439269-66439282 chr6:66439269-66439280
4	CEBPB	chr6:66490602-66490966	IMR90	lung:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
5	CEBPB	chr6:66490661-66490950	H1-hESC	embryonic stem cell:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
6	CEBPB	chr6:66490682-66491041	A549	lung:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
7	CEBPB	chr6:66490621-66490964	K562	blood:	n/a	chr6:66490776-66490789 chr6:66490777-66490788
8	CHD2	chr6:66486288-66486596	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:66486346-66486570	Medullo	brain:	n/a	n/a
10	CTCF	chr6:66504566-66504833	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:66486337-66486570	T-47D	breast:	n/a	n/a
12	CTCF	chr6:66486339-66486561	HepG2	liver:	n/a	n/a
13	CTCF	chr6:66486419-66486547	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:66486419-66486467	GM12878	blood:	n/a	n/a
15	CTCF	chr6:66486360-66486510	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr6:66486297-66486582	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:66486393-66486533	LNCaP	prostate:	n/a	n/a
18	CTCF	chr6:66486400-66486550	BE2_C	brain:	n/a	n/a
19	CTCF	chr6:66486360-66486510	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr6:66486366-66486522	HepG2	liver:	n/a	n/a
21	CTCF	chr6:66486360-66486510	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:66456383-66456463	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:66486360-66486510	HAc	cerebellar:	n/a	n/a
24	CTCF	chr6:66454700-66454850	GM12869	blood:	n/a	n/a
25	CTCF	chr6:66486350-66486499	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr6:66486402-66486558	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:66486436-66486484	Fibrobl	skin:	n/a	n/a
28	CTCF	chr6:66486296-66486581	GM12878	blood:	n/a	n/a
29	CTCF	chr6:66504659-66504785	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:66486146-66486675	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:66486395-66486464	LNCaP	prostate:	n/a	n/a
32	CTCF	chr6:66486381-66486520	ProgFib	skin:	n/a	n/a
33	CTCF	chr6:66458285-66458323	GM10248	blood:	n/a	n/a
34	CTCF	chr6:66486401-66486525	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:66486340-66486490	Caco-2	colon:	n/a	n/a
36	CTCF	chr6:66486420-66486570	NHEK	skin:	n/a	n/a
37	CTCF	chr6:66504620-66504770	A549	lung:	n/a	n/a
38	CTCF	chr6:66482150-66482169	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:66456316-66456385	Fibrobl	skin:	n/a	n/a
40	CTCF	chr6:66486340-66486490	HPF	lung:	n/a	n/a
41	CTCF	chr6:66504424-66504900	MCF-7	breast:	n/a	n/a
42	CTCF	chr6:66504639-66504784	Fibrobl	skin:	n/a	n/a
43	CTCF	chr6:66486380-66486503	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr6:66486236-66486624	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:66504556-66504877	GM12878	blood:	n/a	n/a
46	CTCF	chr6:66486324-66486562	MCF-7	breast:	n/a	n/a
47	CTCF	chr6:66486361-66486536	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr6:66486325-66486500	HepG2	liver:	n/a	n/a
49	CTCF	chr6:66456360-66456448	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:66504577-66504789	Hela-S3	cervix:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:66498734-66498784	HCPEpiC	choroid plexus:	n/a
2	chr6:66497885-66497935	SK-N-SH_RA	brain:	n/a
3	chr6:66497746-66497796	GM12892	blood:	n/a
4	chr6:66498032-66498082	PrEC	prostate:	n/a
5	chr6:66498032-66498082	AG04450	lung:	fetal
6	chr6:66496346-66496396	SK-N-SH_RA	brain:	n/a
7	chr6:66498734-66498784	HNPCEpiC	eye:	n/a
8	chr6:66498734-66498784	AG09319	gingival:	n/a
9	chr6:66498032-66498082	IMR90	lung:	fetal
10	chr6:66497746-66497796	HAEpiC	amniotic membrane:	n/a
11	chr6:66497586-66497636	HMEC	breast:	n/a
12	chr6:66496346-66496396	ProgFib	skin:	n/a
13	chr6:66498734-66498784	HAEpiC	amniotic membrane:	n/a
14	chr6:66493769-66493819	RPTEC	kidney:	n/a
15	chr6:66498032-66498082	GM12878	blood:	n/a
16	chr6:66497746-66497796	A549	lung:	n/a
17	chr6:66497746-66497796	MCF10A-Er-Src	breast:	n/a
18	chr6:66493769-66493819	ProgFib	skin:	n/a
19	chr6:66496346-66496396	NHDF-neo	bronchial:	n/a
20	chr6:66497586-66497636	HCM	heart:	n/a
21	chr6:66496346-66496396	GM06990	blood:	n/a
22	chr6:66497586-66497636	MCF10A-Er-Src	breast:	n/a
23	chr6:66497586-66497636	HCT-116	colon:	n/a
24	chr6:66497586-66497636	NH-A	brain:	n/a
25	chr6:66497746-66497796	ovcar-3	ovarian:	n/a
26	chr6:66498032-66498082	AG09309	skin:	n/a
27	chr6:66496346-66496396	AoSMC	blood vessel:	n/a
28	chr6:66498032-66498082	PFSK-1	brain:	n/a
29	chr6:66493769-66493819	MCF10A-Er-Src	breast:	n/a
30	chr6:66498032-66498082	SAEC	small airway:	n/a
31	chr6:66497746-66497796	SKMC	muscle:	n/a
32	chr6:66496955-66497005	RPTEC	kidney:	n/a
33	chr6:66497586-66497636	HEEpiC	esophagus:	n/a
34	chr6:66498734-66498784	MCF-7	breast:	n/a
35	chr6:66497746-66497796	NHBE	bronchial:	n/a
36	chr6:66498032-66498082	HEK293	kidney:	embryo
37	chr6:66493769-66493819	HUVEC	blood vessel:	n/a
38	chr6:66497746-66497796	AG10803	skin:	n/a
39	chr6:66493769-66493819	AG04450	lung:	fetal
40	chr6:66496955-66497005	AG09319	gingival:	n/a
41	chr6:66498734-66498784	H1-hESC	embryonic stem cell:	embryo
42	chr6:66496955-66497005	HRE	kidney:	n/a
43	chr6:66493769-66493819	GM12878	blood:	n/a
44	chr6:66497746-66497796	HCPEpiC	choroid plexus:	n/a
45	chr6:66498032-66498082	RPTEC	kidney:	n/a
46	chr6:66497586-66497636	BE2_C	brain:	n/a
47	chr6:66498734-66498784	PrEC	prostate:	n/a
48	chr6:66498032-66498082	ovcar-3	ovarian:	n/a
49	chr6:66493769-66493819	NB4	blood:	n/a
50	chr6:66498032-66498082	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:66470336..66472055-chr6:66477425..66479118,2	MCF-7	breast:
2	chr6:66470336..66472055-chr6:66477425..66479118,2	MCF-7	breast:

No data

Variant related genes	Relation type
EYS	TF binding region
SLC25A51P1	TF binding region
EYS	CpG island
SLC25A51P1	CpG island

Extended variants
information (count: 526 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9345674	chr6:66421442-66421443	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549647049	chr6:66421449-66421450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547398465	chr6:66421462-66421463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569577714	chr6:66421468-66421469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538565796	chr6:66421510-66421511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs151146686	chr6:66421533-66421534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565850786	chr6:66421550-66421551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571481636	chr6:66421600-66421601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs116444053	chr6:66421602-66421603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191532344	chr6:66421611-66421612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs74803950	chr6:66421628-66421629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184105737	chr6:66421650-66421651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549927071	chr6:66421669-66421670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373152674	chr6:66421723-66421724	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534800017	chr6:66421739-66421740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555095030	chr6:66421786-66421787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574720298	chr6:66421788-66421789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77497446	chr6:66421797-66421798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9342496	chr6:66421814-66421815	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115908553	chr6:66421850-66421851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs546527867	chr6:66421877-66421878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs373656820	chr6:66438630-66438631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2814148	chr6:66438654-66438655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2812760	chr6:66438679-66438680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9354281	chr6:66438702-66438703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184159172	chr6:66438746-66438747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2812761	chr6:66438807-66438808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9354282	chr6:66438850-66438851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2814147	chr6:66438853-66438854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532661713	chr6:66438866-66438867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531408887	chr6:66438901-66438902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552595910	chr6:66438918-66438919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112997388	chr6:66438922-66438923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150733665	chr6:66438941-66438942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535315325	chr6:66438944-66438945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34395482	chr6:66438969-66438970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554999911	chr6:66438988-66438989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568752827	chr6:66439008-66439009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537221602	chr6:66439009-66439010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113462693	chr6:66439020-66439021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187945143	chr6:66439033-66439034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139042918	chr6:66439044-66439045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149470781	chr6:66439076-66439077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561681558	chr6:66439085-66439086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191530333	chr6:66439133-66439134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143868734	chr6:66439164-66439165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574678310	chr6:66439187-66439188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528870973	chr6:66439206-66439207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148409253	chr6:66439213-66439214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200725525	chr6:66439220-66439221	Enhancers	n/a	n/a	Overlapped CNVs	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66438600-66439000	Enhancers	Fetal Intestine Large	intestine
2	chr6:66438600-66439400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:66438800-66439200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:66456200-66456600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:66470200-66470600	Enhancers	A549	lung
6	chr6:66470200-66471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:66470200-66473000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:66475000-66475200	Bivalent Enhancer	Fetal Heart	heart
9	chr6:66475200-66477800	Enhancers	Fetal Heart	heart
10	chr6:66476400-66476600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:66479000-66479200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:66481600-66482200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:66481600-66482200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:66481800-66482000	Enhancers	Gastric	stomach
15	chr6:66481800-66482200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:66482000-66482400	ZNF genes & repeats	Gastric	stomach
17	chr6:66483800-66484600	Enhancers	Fetal Heart	heart
18	chr6:66486200-66486400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:66486200-66486800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:66486200-66486800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:66496800-66497000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:66497200-66497600	Enhancers	Placenta	Placenta
23	chr6:66497600-66498000	Active TSS	Placenta	Placenta
24	chr6:66500000-66501200	Enhancers	Fetal Stomach	stomach
25	chr6:66500400-66501000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

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