Variant report

Variant	nsv970133
Chromosome Location	chr6:63936480-63950132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:63946532-63946753	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:63946547-63946562	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:63946520-63946863	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr6:63946825-63946865	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:63946343-63946484	GM19239	blood:	n/a	n/a
6	CTCF	chr6:63937579-63937645	LNCaP	prostate:	n/a	n/a
7	CTCF	chr6:63940229-63940278	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr6:63946360-63946510	GM12871	blood:	n/a	n/a
9	CTCF	chr6:63938777-63938853	Fibrobl	skin:	n/a	n/a
10	EP300	chr6:63946504-63946731	GM12878	blood:	n/a	n/a
11	FAM48A	chr6:63946426-63946559	GM12878	blood:	n/a	n/a
12	IKZF1	chr6:63946451-63946719	GM12878	blood:	n/a	n/a
13	JUN	chr6:63936855-63937037	K562	blood:	n/a	n/a
14	KAP1	chr6:63938186-63938657	HEK293	kidney:	n/a	n/a
15	MAFK	chr6:63947588-63947740	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr6:63938260-63938265	MCF-7	breast:	n/a	n/a
17	PBX3	chr6:63941085-63941204	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:63938181-63938272	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:63947042-63947194	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:63946172-63946701	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr6:63939108-63939755	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:63946270-63946717	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr6:63938199-63938278	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:63940635-63941331	GM12878	blood:	n/a	n/a
25	POU2F2	chr6:63940631-63941302	GM12878	blood:	n/a	n/a
26	RAD21	chr6:63939941-63940060	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr6:63946309-63946640	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr6:63946300-63946582	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr6:63946210-63946667	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIX5	chr6:63940685-63941010	K562	blood:	n/a	n/a
31	SP1	chr6:63946418-63946880	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr6:63946316-63946858	H1-hESC	embryonic stem cell:	n/a	n/a
33	SPI1	chr6:63946407-63946842	HL-60	blood:	n/a	n/a
34	TCF12	chr6:63939454-63939642	GM12878	blood:	n/a	n/a
35	ZNF143	chr6:63946341-63946713	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF263	chr6:63938046-63938519	HEK293-T-REx	kidney:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:63940138-63940188	SK-N-SH	brain:	n/a
2	chr6:63947428-63947478	PANC-1	pancreas:	n/a
3	chr6:63947428-63947478	HCF	heart:	n/a
4	chr6:63940486-63940536	PFSK-1	brain:	n/a
5	chr6:63940138-63940188	MCF10A-Er-Src	breast:	n/a
6	chr6:63940138-63940188	AoSMC	blood vessel:	n/a
7	chr6:63940138-63940188	HAEpiC	amniotic membrane:	n/a
8	chr6:63940138-63940188	CMK	blood:	n/a
9	chr6:63947428-63947478	SKMC	muscle:	n/a
10	chr6:63947428-63947478	NH-A	brain:	n/a
11	chr6:63947428-63947478	H1-hESC	embryonic stem cell:	embryo
12	chr6:63940486-63940536	HCPEpiC	choroid plexus:	n/a
13	chr6:63947428-63947478	NT2-D1	testis:	n/a
14	chr6:63940486-63940536	H1-hESC	embryonic stem cell:	embryo
15	chr6:63947428-63947478	ovcar-3	ovarian:	n/a
16	chr6:63940486-63940536	NB4	blood:	n/a
17	chr6:63947428-63947478	Jurkat	blood:	n/a
18	chr6:63940138-63940188	NHBE	bronchial:	n/a
19	chr6:63940486-63940536	Jurkat	blood:	n/a
20	chr6:63947428-63947478	MCF-7	breast:	n/a
21	chr6:63940486-63940536	HPAEpiC	pulmonary alveolar:	n/a
22	chr6:63940486-63940536	HNPCEpiC	eye:	n/a
23	chr6:63940486-63940536	GM12891	blood:	n/a
24	chr6:63947428-63947478	LNCaP	prostate:	n/a
25	chr6:63940486-63940536	NHDF-neo	bronchial:	n/a
26	chr6:63940486-63940536	AG04449	skin:	fetal
27	chr6:63940138-63940188	HRCEpiC	kidney:	n/a
28	chr6:63940486-63940536	IMR90	lung:	fetal
29	chr6:63940138-63940188	Hela-S3	cervix:	n/a
30	chr6:63940486-63940536	HCM	heart:	n/a
31	chr6:63947428-63947478	RPTEC	kidney:	n/a
32	chr6:63947428-63947478	ProgFib	skin:	n/a
33	chr6:63947428-63947478	HL-60	blood:	n/a
34	chr6:63940486-63940536	HEK293	kidney:	embryo
35	chr6:63940138-63940188	Hepatocyte	liver:	n/a
36	chr6:63940486-63940536	T-47D	breast:	n/a
37	chr6:63947428-63947478	Hepatocyte	liver:	n/a
38	chr6:63947428-63947478	HRE	kidney:	n/a
39	chr6:63947428-63947478	BE2_C	brain:	n/a
40	chr6:63940486-63940536	HCT-116	colon:	n/a
41	chr6:63940138-63940188	NH-A	brain:	n/a
42	chr6:63940486-63940536	PANC-1	pancreas:	n/a
43	chr6:63940138-63940188	BE2_C	brain:	n/a
44	chr6:63940486-63940536	SKMC	muscle:	n/a
45	chr6:63940486-63940536	HUVEC	blood vessel:	n/a
46	chr6:63940486-63940536	Hepatocyte	liver:	n/a
47	chr6:63947428-63947478	HRCEpiC	kidney:	n/a
48	chr6:63947428-63947478	SAEC	small airway:	n/a
49	chr6:63947428-63947478	AoSMC	blood vessel:	n/a
50	chr6:63940486-63940536	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:63948917..63949801-chr6:64200742..64201532,2	MCF-7	breast:
2	chr6:63935123..63936664-chr6:63993478..63995873,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP1C-1	chr6:63937390-63937648	NONHSAT113340

No data

Variant related genes	Relation type
SPTLC1P3	TF binding region
ENSG00000218520	TF binding region
SPTLC1P3	CpG island
ENSG00000218520	CpG island

Extended variants
information (count: 325 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570882657	chr6:63936966-63936967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs144475035	chr6:63936994-63936995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534797079	chr6:63937020-63937021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187213027	chr6:63937392-63937393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs116164642	chr6:63937393-63937394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs190443964	chr6:63937394-63937395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs557245853	chr6:63937401-63937402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs181608353	chr6:63937417-63937418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs539408574	chr6:63937421-63937422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs115446198	chr6:63937433-63937434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs6940141	chr6:63937434-63937435	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185732099	chr6:63937435-63937436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs9343866	chr6:63937537-63937538	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367855722	chr6:63937569-63937570	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs574711553	chr6:63937602-63937603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542085425	chr6:63937610-63937611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs563991574	chr6:63937617-63937618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs142588528	chr6:63937633-63937634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs201633303	chr6:63940019-63940020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs3857526	chr6:63940026-63940027	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371868045	chr6:63940058-63940059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144991763	chr6:63940146-63940147	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs568298034	chr6:63940151-63940152	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs189124054	chr6:63940153-63940154	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs62412643	chr6:63940154-63940155	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575254881	chr6:63940170-63940171	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs558695082	chr6:63940234-63940235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181537409	chr6:63940245-63940246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543873390	chr6:63940263-63940264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186389351	chr6:63940264-63940265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530372916	chr6:63940277-63940278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568777781	chr6:63940486-63940487	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs374877675	chr6:63940518-63940519	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs553293322	chr6:63940631-63940632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111296947	chr6:63940633-63940634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575035331	chr6:63940640-63940641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6929350	chr6:63940641-63940642	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570052995	chr6:63940672-63940673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563671306	chr6:63940690-63940691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530906286	chr6:63940693-63940694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546253930	chr6:63940745-63940746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375879474	chr6:63940754-63940755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs370059238	chr6:63940761-63940762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs13212822	chr6:63940784-63940785	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186209738	chr6:63940791-63940792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs13198129	chr6:63940808-63940809	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13211975	chr6:63940813-63940814	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529154508	chr6:63940814-63940815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550625012	chr6:63940827-63940828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs553594339	chr6:63940837-63940838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63943000-63946800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:63945200-63945400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
3	chr6:63945400-63946400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:63946200-63946400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:63946200-63946400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:63946200-63946600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:63946200-63946800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:63946200-63947200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:63946200-63947200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:63946200-63947400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:63946200-63947400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:63946200-63947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:63946400-63946800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr6:63946400-63946800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:63946400-63946800	Enhancers	Fetal Lung	lung
16	chr6:63946400-63947200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:63946400-63947400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:63946400-63947400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:63946600-63947200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:63946800-63947400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:63947200-63947400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr6:63947200-63947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:63947200-63949600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:63947600-63947800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr6:63949600-63951000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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