Variant report

Variant	nsv818336
Chromosome Location	chr5:28779357-28815962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:342)
CpG islands
(count:490)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:28810841-28811178	K562	blood:	n/a	n/a
2	BHLHE40	chr5:28808920-28809724	K562	blood:	n/a	n/a
3	BHLHE40	chr5:28814502-28814623	K562	blood:	n/a	n/a
4	BHLHE40	chr5:28810355-28810693	K562	blood:	n/a	chr5:28810481-28810497 chr5:28810394-28810410
5	BRCA1	chr5:28815213-28815234	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr5:28809015-28809399	K562	blood:	n/a	n/a
7	CCNT2	chr5:28810313-28810825	K562	blood:	n/a	chr5:28810357-28810366
8	CCNT2	chr5:28809192-28810112	K562	blood:	n/a	n/a
9	CEBPB	chr5:28809192-28809322	K562	blood:	n/a	n/a
10	CHD2	chr5:28809029-28809592	K562	blood:	n/a	n/a
11	CHD2	chr5:28810617-28810817	K562	blood:	n/a	n/a
12	CHD2	chr5:28810281-28810330	K562	blood:	n/a	n/a
13	CTCF	chr5:28810920-28811070	HepG2	liver:	n/a	chr5:28811027-28811040
14	CTCF	chr5:28810400-28810550	HVMF	connective:	n/a	n/a
15	CTCF	chr5:28811000-28811150	HCPEpiC	choroid plexus:	n/a	chr5:28811027-28811040
16	CTCF	chr5:28779342-28779577	Gliobla	brain:	n/a	n/a
17	CTCF	chr5:28810960-28811110	RPTEC	kidney:	n/a	chr5:28811027-28811040
18	CTCF	chr5:28779360-28779510	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr5:28810886-28811292	MCF-7	breast:	n/a	chr5:28811027-28811040
20	CTCF	chr5:28779380-28779530	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr5:28779400-28779550	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr5:28779361-28779569	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:28779286-28779612	GM12878	blood:	n/a	n/a
24	CTCF	chr5:28779420-28779570	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:28810977-28811086	LNCaP	prostate:	n/a	chr5:28811027-28811040
26	CTCF	chr5:28779340-28779490	K562	blood:	n/a	n/a
27	CTCF	chr5:28810960-28811110	HVMF	connective:	n/a	chr5:28811027-28811040
28	CTCF	chr5:28810936-28811182	MCF-7	breast:	n/a	chr5:28811027-28811040
29	CTCF	chr5:28810960-28811110	HBMEC	blood vessel:	n/a	chr5:28811027-28811040
30	CTCF	chr5:28779400-28779550	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr5:28811011-28811099	LNCaP	prostate:	n/a	chr5:28811027-28811040
32	CTCF	chr5:28779420-28779570	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr5:28810940-28811090	A549	lung:	n/a	chr5:28811027-28811040
34	CTCF	chr5:28810960-28811115	MCF-7	breast:	n/a	chr5:28811027-28811040
35	CTCF	chr5:28811040-28811190	HVMF	connective:	n/a	n/a
36	CTCF	chr5:28779345-28779588	LNCaP	prostate:	n/a	n/a
37	CTCF	chr5:28779320-28779470	HAc	cerebellar:	n/a	n/a
38	CTCF	chr5:28809845-28809945	K562	blood:	n/a	n/a
39	CTCF	chr5:28779420-28779570	GM12874	blood:	n/a	n/a
40	CTCF	chr5:28810940-28811090	HEK293	kidney:	n/a	chr5:28811027-28811040
41	CTCF	chr5:28779380-28779530	NHEK	skin:	n/a	n/a
42	CTCF	chr5:28779400-28779550	RPTEC	kidney:	n/a	n/a
43	CTCF	chr5:28779400-28779550	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr5:28779286-28779555	A549	lung:	n/a	n/a
45	CTCF	chr5:28779294-28779625	K562	blood:	n/a	n/a
46	CTCF	chr5:28810970-28811101	HepG2	liver:	n/a	chr5:28811027-28811040
47	CTCF	chr5:28779320-28779470	RPTEC	kidney:	n/a	n/a
48	CTCF	chr5:28810920-28811070	HA-sp	spinal cord:	n/a	chr5:28811027-28811040
49	CTCF	chr5:28779400-28779550	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr5:28779390-28779559	A549	lung:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:28810402-28810452	AG10803	skin:	n/a
2	chr5:28810148-28810198	BJ	skin:	n/a
3	chr5:28810402-28810452	AG10803	skin:	n/a
4	chr5:28810148-28810198	BJ	skin:	n/a
5	chr5:28810645-28810695	SAEC	small airway:	n/a
6	chr5:28809037-28809087	AoSMC	blood vessel:	n/a
7	chr5:28809997-28810047	GM12892	blood:	n/a
8	chr5:28810645-28810695	MCF-7	breast:	n/a
9	chr5:28810645-28810695	RPTEC	kidney:	n/a
10	chr5:28809997-28810047	NH-A	brain:	n/a
11	chr5:28809037-28809087	SK-N-SH	brain:	n/a
12	chr5:28799238-28799288	NB4	blood:	n/a
13	chr5:28809121-28809171	HL-60	blood:	n/a
14	chr5:28810402-28810452	HCPEpiC	choroid plexus:	n/a
15	chr5:28809121-28809171	PFSK-1	brain:	n/a
16	chr5:28809037-28809087	HRPEpiC	eye:	n/a
17	chr5:28809037-28809087	NH-A	brain:	n/a
18	chr5:28809037-28809087	HNPCEpiC	eye:	n/a
19	chr5:28810402-28810452	HNPCEpiC	eye:	n/a
20	chr5:28809037-28809087	HPAEpiC	pulmonary alveolar:	n/a
21	chr5:28809121-28809171	BE2_C	brain:	n/a
22	chr5:28810148-28810198	AG04449	skin:	fetal
23	chr5:28810645-28810695	A549	lung:	n/a
24	chr5:28809997-28810047	A549	lung:	n/a
25	chr5:28809121-28809171	RPTEC	kidney:	n/a
26	chr5:28809622-28809672	HPAEpiC	pulmonary alveolar:	n/a
27	chr5:28810402-28810452	AG04450	lung:	fetal
28	chr5:28810645-28810695	SKMC	muscle:	n/a
29	chr5:28810402-28810452	LNCaP	prostate:	n/a
30	chr5:28810148-28810198	HEK293	kidney:	embryo
31	chr5:28799238-28799288	Caco-2	colon:	n/a
32	chr5:28809622-28809672	GM12878	blood:	n/a
33	chr5:28809037-28809087	NT2-D1	testis:	n/a
34	chr5:28809121-28809171	GM12891	blood:	n/a
35	chr5:28810402-28810452	AG09319	gingival:	n/a
36	chr5:28809622-28809672	HL-60	blood:	n/a
37	chr5:28809622-28809672	NH-A	brain:	n/a
38	chr5:28810402-28810452	HIPEpiC	eye:	n/a
39	chr5:28809121-28809171	HRE	kidney:	n/a
40	chr5:28810148-28810198	NHBE	bronchial:	n/a
41	chr5:28810148-28810198	HRPEpiC	eye:	n/a
42	chr5:28809997-28810047	NB4	blood:	n/a
43	chr5:28810148-28810198	MCF10A-Er-Src	breast:	n/a
44	chr5:28809037-28809087	NB4	blood:	n/a
45	chr5:28810148-28810198	CMK	blood:	n/a
46	chr5:28810645-28810695	PFSK-1	brain:	n/a
47	chr5:28799238-28799288	HMEC	breast:	n/a
48	chr5:28810645-28810695	NT2-D1	testis:	n/a
49	chr5:28799238-28799288	SK-N-MC	brain:	n/a
50	chr5:28809121-28809171	HUVEC	blood vessel:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:28808032..28811102-chr5:28813971..28817710,5	K562	blood:
2	chr5:28805922..28808420-chr5:28809202..28811186,4	K562	blood:
3	chr5:28779022..28779987-chr5:28896759..28897898,5	MCF-7	breast:
4	chr5:28805163..28807259-chr5:28812094..28813798,2	K562	blood:
5	chr5:28777228..28779572-chr5:28784624..28787544,2	K562	blood:
6	chr5:28786798..28789363-chr5:28791647..28793398,2	K562	blood:
7	chr5:28805163..28807259-chr5:28812094..28813798,2	K562	blood:
8	chr5:28765020..28766870-chr5:28809812..28812642,2	K562	blood:
9	chr5:28806282..28808048-chr5:28853726..28856182,2	K562	blood:
10	chr1:121484566..121485406-chr5:28783478..28783978,2	MCF-7	breast:
11	chr5:28743630..28746249-chr5:28809920..28812616,2	K562	blood:
12	chr5:28809387..28811298-chr5:29193650..29195834,2	K562	blood:
13	chr5:28777228..28779572-chr5:28784624..28787544,2	K562	blood:
14	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:
15	chr5:28786798..28789363-chr5:28791647..28793398,2	K562	blood:
16	chr5:28771345..28773063-chr5:28782403..28784396,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-16	chr5:28808645-28809362	NONHSAT100821
2	lnc-CDH9-6	chr5:28809063-28809356	ENSG00000250453
3	lnc-CDH9-6	chr5:28782785-28782942	ENSG00000250453

No data

Variant related genes	Relation type
ENSG00000250453	TF binding region
ENSG00000270495	TF binding region
ENSG00000250453	CpG island
ENSG00000270495	CpG island
ENSG00000270495	chromatin interactions
ENSG00000250453	chromatin interactions

Extended variants
information (count: 497 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551425097	chr5:28781804-28781805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2548009	chr5:28781906-28781907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188209011	chr5:28781914-28781915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181826628	chr5:28781915-28781916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561456107	chr5:28781929-28781930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530186631	chr5:28781970-28781971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143840293	chr5:28782007-28782008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184790366	chr5:28782091-28782092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570242679	chr5:28782107-28782108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112681038	chr5:28782111-28782112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531271024	chr5:28782122-28782123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552267438	chr5:28782141-28782142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570831104	chr5:28782166-28782167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147245266	chr5:28782220-28782221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553466901	chr5:28782236-28782237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377233301	chr5:28782237-28782238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568573444	chr5:28782239-28782240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535290814	chr5:28782249-28782250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557162241	chr5:28782316-28782317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534237763	chr5:28782320-28782321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575425688	chr5:28782483-28782484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554075655	chr5:28782556-28782557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567596549	chr5:28782561-28782562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148808699	chr5:28782587-28782588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572462509	chr5:28782595-28782596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556332144	chr5:28782620-28782621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561444265	chr5:28782626-28782627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188915403	chr5:28782645-28782646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368210641	chr5:28782658-28782659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182142485	chr5:28782695-28782696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186793410	chr5:28782697-28782698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191233794	chr5:28782774-28782775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539079332	chr5:28782785-28782786	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs142449675	chr5:28782793-28782794	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs558705011	chr5:28782801-28782802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs150885840	chr5:28782846-28782847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs35488028	chr5:28782903-28782904	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528450584	chr5:28782925-28782926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs541422173	chr5:28782930-28782931	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs547065017	chr5:28782953-28782954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77072656	chr5:28782990-28782991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16898129	chr5:28783015-28783016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552187278	chr5:28783073-28783074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550815911	chr5:28783084-28783085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181349350	chr5:28783105-28783106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539263733	chr5:28783181-28783182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111625365	chr5:28783247-28783248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34989840	chr5:28783266-28783267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572848730	chr5:28783367-28783368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533534889	chr5:28783416-28783417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28781800-28784200	Weak transcription	K562	blood
2	chr5:28789200-28790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:28789600-28790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:28806200-28813200	Active TSS	K562	blood
5	chr5:28807200-28807800	Enhancers	Hela-S3	cervix
6	chr5:28808400-28808600	Enhancers	Placenta	Placenta
7	chr5:28808400-28809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:28808600-28810800	ZNF genes & repeats	Placenta	Placenta
9	chr5:28809000-28810600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:28809200-28809400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:28809400-28809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:28809800-28810400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:28810800-28811400	Active TSS	Placenta	Placenta
14	chr5:28813200-28816600	Weak transcription	K562	blood

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