Variant report

Variant	nsv821452
Chromosome Location	chr5:1857919-1858734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr5:1858013-1858190	GM12878	blood:	n/a	n/a
2	CBX3	chr5:1857894-1858251	K562	blood:	n/a	n/a
3	CBX3	chr5:1857836-1858350	K562	blood:	n/a	n/a
4	GABPA	chr5:1857859-1858548	Hela-S3	cervix:	n/a	n/a
5	HEY1	chr5:1857976-1858389	K562	blood:	n/a	n/a
6	IRF4	chr5:1857920-1858435	GM12878	blood:	n/a	n/a
7	NR2F2	chr5:1857793-1858687	K562	blood:	n/a	n/a
8	NR2F2	chr5:1857771-1858688	K562	blood:	n/a	n/a
9	NR3C1	chr5:1857860-1858449	A549	lung:	n/a	n/a
10	NR3C1	chr5:1857924-1858543	A549	lung:	n/a	n/a
11	NR3C1	chr5:1857846-1858660	A549	lung:	n/a	n/a
12	PAX5	chr5:1857839-1858607	GM12878	blood:	n/a	n/a
13	PAX5	chr5:1857882-1858450	GM12878	blood:	n/a	n/a
14	POU2F2	chr5:1857785-1858559	GM12878	blood:	n/a	n/a
15	REST	chr5:1857890-1858569	PANC-1	pancreas:	n/a	n/a
16	RXRA	chr5:1857770-1858584	HepG2	liver:	n/a	n/a
17	SIX5	chr5:1857859-1858274	K562	blood:	n/a	n/a
18	SPI1	chr5:1857900-1858405	GM12878	blood:	n/a	n/a
19	TCF3	chr5:1857845-1858543	GM12878	blood:	n/a	n/a
20	USF1	chr5:1858150-1858382	HepG2	liver:	n/a	n/a
21	ZBTB33	chr5:1857982-1858516	GM12878	blood:	n/a	n/a
22	ZBTB33	chr5:1857869-1858588	K562	blood:	n/a	n/a
23	ZBTB33	chr5:1857963-1858255	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1858105-1858155	GM12892	blood:	n/a
2	chr5:1858105-1858155	Jurkat	blood:	n/a
3	chr5:1858360-1858410	ProgFib	skin:	n/a
4	chr5:1858105-1858155	IMR90	lung:	fetal
5	chr5:1858105-1858155	HEK293	kidney:	embryo
6	chr5:1858360-1858410	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:1858105-1858155	HCM	heart:	n/a
8	chr5:1858105-1858155	HPAEpiC	pulmonary alveolar:	n/a
9	chr5:1858105-1858155	PrEC	prostate:	n/a
10	chr5:1858105-1858155	NH-A	brain:	n/a
11	chr5:1858360-1858410	LNCaP	prostate:	n/a
12	chr5:1858360-1858410	AoSMC	blood vessel:	n/a
13	chr5:1858360-1858410	K562	blood:	n/a
14	chr5:1858105-1858155	AG04449	skin:	fetal
15	chr5:1858360-1858410	HEK293	kidney:	embryo
16	chr5:1858360-1858410	HL-60	blood:	n/a
17	chr5:1858360-1858410	AG04450	lung:	fetal
18	chr5:1858360-1858410	HRCEpiC	kidney:	n/a
19	chr5:1858360-1858410	MCF-7	breast:	n/a
20	chr5:1858105-1858155	MCF-7	breast:	n/a
21	chr5:1858360-1858410	Hela-S3	cervix:	n/a
22	chr5:1858360-1858410	PANC-1	pancreas:	n/a
23	chr5:1858105-1858155	NT2-D1	testis:	n/a
24	chr5:1858360-1858410	Caco-2	colon:	n/a
25	chr5:1858105-1858155	HUVEC	blood vessel:	n/a
26	chr5:1858105-1858155	HMEC	breast:	n/a
27	chr5:1858360-1858410	HIPEpiC	eye:	n/a
28	chr5:1858360-1858410	HCM	heart:	n/a
29	chr5:1858105-1858155	HL-60	blood:	n/a
30	chr5:1858105-1858155	ECC-1	luminal epithelium:	n/a
31	chr5:1858360-1858410	BE2_C	brain:	n/a
32	chr5:1858360-1858410	HRPEpiC	eye:	n/a
33	chr5:1858360-1858410	GM12892	blood:	n/a
34	chr5:1858360-1858410	HRE	kidney:	n/a
35	chr5:1858105-1858155	SK-N-SH_RA	brain:	n/a
36	chr5:1858360-1858410	GM12878	blood:	n/a
37	chr5:1858105-1858155	Caco-2	colon:	n/a
38	chr5:1858360-1858410	MCF10A-Er-Src	breast:	n/a
39	chr5:1858105-1858155	NHDF-neo	bronchial:	n/a
40	chr5:1858105-1858155	HEEpiC	esophagus:	n/a
41	chr5:1858105-1858155	A549	lung:	n/a
42	chr5:1858360-1858410	NB4	blood:	n/a
43	chr5:1858105-1858155	BJ	skin:	n/a
44	chr5:1858105-1858155	HRE	kidney:	n/a
45	chr5:1858105-1858155	ovcar-3	ovarian:	n/a
46	chr5:1858360-1858410	PrEC	prostate:	n/a
47	chr5:1858105-1858155	K562	blood:	n/a
48	chr5:1858360-1858410	AG09319	gingival:	n/a
49	chr5:1858360-1858410	SK-N-SH_RA	brain:	n/a
50	chr5:1858360-1858410	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:1857778..1859771-chr5:1862935..1865251,2	K562	blood:
2	chr5:1800070..1802925-chr5:1857990..1860962,2	MCF-7	breast:
3	chr5:1858296..1860407-chr5:1867907..1869801,2	K562	blood:
4	chr5:1854699..1857021-chr5:1857076..1860064,2	MCF-7	breast:
5	chr5:1847969..1849762-chr5:1857075..1859017,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-10	chr5:1858523-1860004	NONHSAT100074

No data

Variant related genes	Relation type
ENSG00000250417	TF binding region
ENSG00000250417	CpG island
ENSG00000250417	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000145494	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553186898	chr5:1857952-1857953	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35924054	chr5:1857977-1857978	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs62338089	chr5:1857990-1857991	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs62338090	chr5:1857998-1857999	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs1684955	chr5:1858011-1858012	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs36058475	chr5:1858028-1858029	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62338091	chr5:1858041-1858042	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs62338092	chr5:1858049-1858050	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143471262	chr5:1858061-1858062	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs56080952	chr5:1858062-1858063	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs56319148	chr5:1858066-1858067	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113045083	chr5:1858079-1858080	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs34357512	chr5:1858092-1858093	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs78177955	chr5:1858100-1858101	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs113385373	chr5:1858111-1858112	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112230078	chr5:1858112-1858113	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372916058	chr5:1858113-1858114	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111679583	chr5:1858122-1858123	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs377112684	chr5:1858137-1858138	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs448534	chr5:1858143-1858144	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs395490	chr5:1858163-1858164	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs395426	chr5:1858164-1858165	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375348890	chr5:1858188-1858189	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs112444627	chr5:1858202-1858203	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs542227584	chr5:1858214-1858215	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs561193596	chr5:1858215-1858216	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113154821	chr5:1858232-1858233	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs71595075	chr5:1858245-1858246	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537304034	chr5:1858253-1858254	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs200605334	chr5:1858283-1858284	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs375993559	chr5:1858296-1858297	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs367732568	chr5:1858304-1858305	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs74834697	chr5:1858316-1858317	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113335340	chr5:1858317-1858318	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs111580682	chr5:1858355-1858356	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs71595078	chr5:1858368-1858369	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs75036678	chr5:1858385-1858386	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs113870110	chr5:1858398-1858399	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs79080741	chr5:1858406-1858407	Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs79371457	chr5:1858418-1858419	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112830970	chr5:1858419-1858420	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543706019	chr5:1858439-1858440	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs36001414	chr5:1858449-1858450	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs565098111	chr5:1858454-1858455	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532161992	chr5:1858462-1858463	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs35173565	chr5:1858469-1858470	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs372056	chr5:1858470-1858471	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs386861	chr5:1858494-1858495	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs79062686	chr5:1858508-1858509	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559175563	chr5:1858521-1858522	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1854000-1872800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:1856000-1862600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:1856000-1875400	Weak transcription	Right Atrium	heart
4	chr5:1856600-1858000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:1858000-1859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:1858600-1858800	Enhancers	Right Ventricle	heart

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