Variant report

Variant	nsv968302
Chromosome Location	chr5:37466213-37487412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:37471796-37472190	K562	blood:	n/a	n/a
2	CBX3	chr5:37481023-37481289	K562	blood:	n/a	n/a
3	CBX3	chr5:37481486-37481876	K562	blood:	n/a	n/a
4	CBX3	chr5:37480974-37481326	K562	blood:	n/a	n/a
5	CEBPB	chr5:37474447-37474554	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:37481844-37481867	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:37480974-37481250	K562	blood:	n/a	n/a
8	CEBPB	chr5:37480989-37481283	K562	blood:	n/a	n/a
9	CEBPB	chr5:37481844-37481981	K562	blood:	n/a	chr5:37481876-37481887
10	CEBPD	chr5:37480945-37481331	K562	blood:	n/a	n/a
11	CTCF	chr5:37468604-37468672	LNCaP	prostate:	n/a	n/a
12	CTCF	chr5:37480910-37481430	K562	blood:	n/a	n/a
13	CTCF	chr5:37481065-37481291	K562	blood:	n/a	n/a
14	CTCF	chr5:37468277-37468303	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr5:37481057-37481370	K562	blood:	n/a	n/a
16	E2F4	chr5:37471715-37472041	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr5:37472908-37473152	HepG2	liver:	n/a	chr5:37473031-37473046
18	FOXA1	chr5:37472894-37473114	T-47D	breast:	n/a	chr5:37473031-37473046
19	JUN	chr5:37470121-37470238	K562	blood:	n/a	n/a
20	KAP1	chr5:37471558-37472594	K562	blood:	n/a	n/a
21	KAP1	chr5:37477103-37477582	K562	blood:	n/a	n/a
22	KAP1	chr5:37481535-37481878	K562	blood:	n/a	n/a
23	MAFF	chr5:37471992-37472224	HepG2	liver:	n/a	n/a
24	MAFF	chr5:37472896-37473177	HepG2	liver:	n/a	chr5:37473006-37473024
25	MAFK	chr5:37471936-37472274	HepG2	liver:	n/a	chr5:37472098-37472113
26	MAFK	chr5:37472839-37473166	HepG2	liver:	n/a	chr5:37473008-37473023
27	MAFK	chr5:37471988-37472199	IMR90	lung:	n/a	chr5:37472098-37472113
28	MAFK	chr5:37472859-37473166	HepG2	liver:	n/a	chr5:37473008-37473023
29	MAFK	chr5:37471964-37472220	HepG2	liver:	n/a	chr5:37472098-37472113
30	MYC	chr5:37480050-37480236	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr5:37473674-37473702	MCF-7	breast:	n/a	n/a
32	NR2F2	chr5:37481019-37481275	K562	blood:	n/a	n/a
33	NR2F2	chr5:37483190-37483582	K562	blood:	n/a	n/a
34	PAX5	chr5:37484415-37484645	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:37469608-37469611	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr5:37469736-37469747	K562	blood:	n/a	n/a
37	POLR2A	chr5:37476717-37476771	Gliobla	brain:	n/a	n/a
38	POLR2A	chr5:37484832-37485122	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:37469237-37469352	ProgFib	skin:	n/a	n/a
40	RFX5	chr5:37472334-37472541	K562	blood:	n/a	n/a
41	SETDB1	chr5:37471631-37472253	U2OS	brain:	n/a	n/a
42	STAT3	chr5:37477510-37477629	MCF10A-Er-Src	breast:	n/a	n/a
43	ZBTB7A	chr5:37481595-37481845	K562	blood:	n/a	n/a
44	ZBTB7A	chr5:37481619-37481769	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37484025-37484075	IMR90	lung:	fetal
2	chr5:37484025-37484075	T-47D	breast:	n/a
3	chr5:37484025-37484075	K562	blood:	n/a
4	chr5:37484025-37484075	Caco-2	colon:	n/a
5	chr5:37484025-37484075	HCPEpiC	choroid plexus:	n/a
6	chr5:37484025-37484075	Hepatocyte	liver:	n/a
7	chr5:37484025-37484075	GM19239	blood:	n/a
8	chr5:37484025-37484075	GM12892	blood:	n/a
9	chr5:37484025-37484075	H1-hESC	embryonic stem cell:	embryo
10	chr5:37484025-37484075	NHDF-neo	bronchial:	n/a
11	chr5:37484025-37484075	HRCEpiC	kidney:	n/a
12	chr5:37484025-37484075	HCM	heart:	n/a
13	chr5:37484025-37484075	RPTEC	kidney:	n/a
14	chr5:37484025-37484075	HepG2	liver:	n/a
15	chr5:37484025-37484075	HIPEpiC	eye:	n/a
16	chr5:37484025-37484075	GM06990	blood:	n/a
17	chr5:37484025-37484075	PANC-1	pancreas:	n/a
18	chr5:37484025-37484075	AG04450	lung:	fetal
19	chr5:37484025-37484075	AG09319	gingival:	n/a
20	chr5:37484025-37484075	HCF	heart:	n/a
21	chr5:37484025-37484075	Jurkat	blood:	n/a
22	chr5:37484025-37484075	MCF-7	breast:	n/a
23	chr5:37484025-37484075	GM12878	blood:	n/a
24	chr5:37484025-37484075	HAEpiC	amniotic membrane:	n/a
25	chr5:37484025-37484075	HL-60	blood:	n/a
26	chr5:37484025-37484075	CMK	blood:	n/a
27	chr5:37484025-37484075	ECC-1	luminal epithelium:	n/a
28	chr5:37484025-37484075	HMEC	breast:	n/a
29	chr5:37484025-37484075	AoSMC	blood vessel:	n/a
30	chr5:37484025-37484075	HRE	kidney:	n/a
31	chr5:37484025-37484075	GM12891	blood:	n/a
32	chr5:37484025-37484075	ProgFib	skin:	n/a
33	chr5:37484025-37484075	ovcar-3	ovarian:	n/a
34	chr5:37484025-37484075	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:37484025-37484075	NHBE	bronchial:	n/a
36	chr5:37484025-37484075	Hela-S3	cervix:	n/a
37	chr5:37484025-37484075	NB4	blood:	n/a
38	chr5:37484025-37484075	BE2_C	brain:	n/a
39	chr5:37484025-37484075	NH-A	brain:	n/a
40	chr5:37484025-37484075	HEEpiC	esophagus:	n/a
41	chr5:37484025-37484075	A549	lung:	n/a
42	chr5:37484025-37484075	HCT-116	colon:	n/a
43	chr5:37484025-37484075	SKMC	muscle:	n/a
44	chr5:37484025-37484075	PrEC	prostate:	n/a
45	chr5:37484025-37484075	HUVEC	blood vessel:	n/a
46	chr5:37484025-37484075	SAEC	small airway:	n/a
47	chr5:37484025-37484075	AG04449	skin:	fetal
48	chr5:37484025-37484075	AG09309	skin:	n/a
49	chr5:37484025-37484075	HNPCEpiC	eye:	n/a
50	chr5:37484025-37484075	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37477675..37480288-chr5:37486843..37489829,2	K562	blood:

No data

Variant related genes	Relation type
WDR70	TF binding region
WDR70	CpG island
ENSG00000082068	chromatin interactions

Extended variants
information (count: 907 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543578055	chr5:37466320-37466321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12186820	chr5:37466338-37466339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200729410	chr5:37466383-37466384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529481879	chr5:37466422-37466423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547577721	chr5:37466496-37466497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559668395	chr5:37466574-37466575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185879043	chr5:37466579-37466580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201060784	chr5:37466604-37466605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367576787	chr5:37466676-37466677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570368022	chr5:37466680-37466681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537819346	chr5:37466681-37466682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538722152	chr5:37466706-37466707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189667894	chr5:37466724-37466725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551530630	chr5:37466725-37466726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6880207	chr5:37466753-37466754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77002720	chr5:37466776-37466777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78763217	chr5:37466779-37466780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535686230	chr5:37466794-37466795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554003786	chr5:37466795-37466796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76386576	chr5:37466810-37466811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79956631	chr5:37466814-37466815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77911063	chr5:37466819-37466820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75967979	chr5:37466852-37466853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572221023	chr5:37466861-37466862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539358087	chr5:37466922-37466923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565688168	chr5:37466944-37466945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558006058	chr5:37466977-37466978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576388740	chr5:37467026-37467027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182336028	chr5:37467052-37467053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6881301	chr5:37467074-37467075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554484272	chr5:37467116-37467117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146326015	chr5:37467125-37467126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541081360	chr5:37467151-37467152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139648731	chr5:37467158-37467159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533315000	chr5:37467226-37467227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545399845	chr5:37467227-37467228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59162747	chr5:37467228-37467229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187754536	chr5:37467245-37467246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183696604	chr5:37467260-37467261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549740210	chr5:37467269-37467270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556505492	chr5:37467283-37467284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146048127	chr5:37467322-37467323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377361318	chr5:37467328-37467329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528999740	chr5:37467365-37467366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192387042	chr5:37467392-37467393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368972046	chr5:37467394-37467395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62361480	chr5:37467418-37467419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62361481	chr5:37467437-37467438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372170627	chr5:37467469-37467470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565895925	chr5:37467491-37467492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37410600-37471000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:37420800-37480200	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:37421600-37478400	Weak transcription	Aorta	Aorta
4	chr5:37425400-37480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:37425800-37471000	Weak transcription	Fetal Lung	lung
6	chr5:37426000-37479800	Weak transcription	HSMM	muscle
7	chr5:37431800-37471000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:37435600-37480000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:37445200-37467600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:37445200-37471000	Weak transcription	Left Ventricle	heart
11	chr5:37445200-37479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:37445200-37480200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:37445200-37480200	Weak transcription	Ovary	ovary
14	chr5:37445200-37480200	Weak transcription	Thymus	Thymus
15	chr5:37445400-37471000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:37445400-37480200	Weak transcription	Hela-S3	cervix
17	chr5:37445600-37471000	Weak transcription	Fetal Thymus	thymus
18	chr5:37445600-37480000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:37451800-37477000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:37452000-37470800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:37452000-37471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:37452000-37471000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:37452800-37470600	Weak transcription	Liver	Liver
24	chr5:37452800-37470800	Weak transcription	Primary T cells from cord blood	blood
25	chr5:37452800-37471000	Weak transcription	Fetal Stomach	stomach
26	chr5:37453200-37470600	Weak transcription	Dnd41	blood
27	chr5:37453200-37470800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:37454200-37470600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:37455000-37471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:37455200-37468800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:37458000-37480200	Weak transcription	Right Ventricle	heart
32	chr5:37463400-37470600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:37463600-37470800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:37463800-37469000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:37463800-37489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:37464200-37470800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:37464200-37477600	Weak transcription	HSMMtube	muscle
38	chr5:37465200-37470800	Weak transcription	GM12878-XiMat	blood
39	chr5:37465600-37471000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:37465600-37471000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:37466000-37494400	Weak transcription	Osteobl	bone
42	chr5:37468800-37469800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:37469000-37469200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:37469200-37480200	Weak transcription	Placenta	Placenta
45	chr5:37469400-37470800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:37469600-37480200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:37469600-37481200	Weak transcription	Gastric	stomach
48	chr5:37469800-37470800	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:37469800-37471200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:37470200-37472400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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