Variant report

Variant	nsv1017593
Chromosome Location	chr5:17500814-17625621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1568)
CpG islands
(count:551)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1568 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:17517830-17517852	K562	blood:	n/a	n/a
2	ARID3A	chr5:17526839-17526866	K562	blood:	n/a	n/a
3	ATF1	chr5:17517811-17517870	K562	blood:	n/a	n/a
4	ATF3	chr5:17517759-17517894	K562	blood:	n/a	n/a
5	BACH1	chr5:17526845-17526876	K562	blood:	n/a	n/a
6	BATF	chr5:17527729-17528285	GM12878	blood:	n/a	n/a
7	BATF	chr5:17528689-17530680	GM12878	blood:	n/a	n/a
8	BATF	chr5:17588369-17588646	GM12878	blood:	n/a	n/a
9	BATF	chr5:17581436-17582365	GM12878	blood:	n/a	n/a
10	BATF	chr5:17586583-17586881	GM12878	blood:	n/a	n/a
11	BATF	chr5:17580902-17581080	GM12878	blood:	n/a	n/a
12	BATF	chr5:17524295-17524851	GM12878	blood:	n/a	n/a
13	BATF	chr5:17588661-17591031	GM12878	blood:	n/a	n/a
14	BATF	chr5:17595530-17597898	GM12878	blood:	n/a	n/a
15	BATF	chr5:17588377-17588634	GM12878	blood:	n/a	n/a
16	BATF	chr5:17581121-17581401	GM12878	blood:	n/a	n/a
17	BATF	chr5:17591814-17594470	GM12878	blood:	n/a	n/a
18	BATF	chr5:17586875-17587277	GM12878	blood:	n/a	n/a
19	BATF	chr5:17591806-17592083	GM12878	blood:	n/a	n/a
20	BATF	chr5:17528684-17530686	GM12878	blood:	n/a	n/a
21	BATF	chr5:17525250-17527716	GM12878	blood:	n/a	n/a
22	BATF	chr5:17586589-17586869	GM12878	blood:	n/a	n/a
23	BATF	chr5:17581115-17581413	GM12878	blood:	n/a	n/a
24	BATF	chr5:17595225-17595440	GM12878	blood:	n/a	n/a
25	BATF	chr5:17520861-17521352	GM12878	blood:	n/a	n/a
26	BATF	chr5:17599390-17599669	GM12878	blood:	n/a	n/a
27	BATF	chr5:17583178-17585829	GM12878	blood:	n/a	n/a
28	BATF	chr5:17525255-17528049	GM12878	blood:	n/a	n/a
29	BATF	chr5:17518387-17521181	GM12878	blood:	n/a	n/a
30	BATF	chr5:17592098-17594464	GM12878	blood:	n/a	n/a
31	BATF	chr5:17595471-17597904	GM12878	blood:	n/a	n/a
32	BATF	chr5:17595045-17595501	GM12878	blood:	n/a	n/a
33	BATF	chr5:17524307-17524569	GM12878	blood:	n/a	n/a
34	BATF	chr5:17599128-17599665	GM12878	blood:	n/a	n/a
35	BATF	chr5:17587321-17587686	GM12878	blood:	n/a	n/a
36	BATF	chr5:17588662-17591030	GM12878	blood:	n/a	n/a
37	BATF	chr5:17521821-17524301	GM12878	blood:	n/a	n/a
38	BATF	chr5:17518382-17520848	GM12878	blood:	n/a	n/a
39	BATF	chr5:17583462-17585828	GM12878	blood:	n/a	n/a
40	BATF	chr5:17586894-17587691	GM12878	blood:	n/a	n/a
41	BATF	chr5:17583170-17583447	GM12878	blood:	n/a	n/a
42	BATF	chr5:17581407-17582352	GM12878	blood:	n/a	n/a
43	BATF	chr5:17521816-17524282	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:17588064-17591040	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:17518314-17521339	GM12878	blood:	n/a	n/a
46	BCL11A	chr5:17586493-17587759	GM12878	blood:	n/a	n/a
47	BCL11A	chr5:17583006-17585826	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:17517639-17518002	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:17528616-17530680	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:17582996-17585838	GM12878	blood:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17580826-17580876	NHBE	bronchial:	n/a
2	chr5:17595441-17595491	CMK	blood:	n/a
3	chr5:17580826-17580876	NHBE	bronchial:	n/a
4	chr5:17595441-17595491	CMK	blood:	n/a
5	chr5:17595441-17595491	HNPCEpiC	eye:	n/a
6	chr5:17527430-17527480	Jurkat	blood:	n/a
7	chr5:17517201-17517251	HCT-116	colon:	n/a
8	chr5:17595441-17595491	GM12892	blood:	n/a
9	chr5:17527430-17527480	Hela-S3	cervix:	n/a
10	chr5:17517201-17517251	HepG2	liver:	n/a
11	chr5:17580826-17580876	PANC-1	pancreas:	n/a
12	chr5:17522582-17522632	LNCaP	prostate:	n/a
13	chr5:17527430-17527480	ECC-1	luminal epithelium:	n/a
14	chr5:17524561-17524611	AG09319	gingival:	n/a
15	chr5:17527430-17527480	A549	lung:	n/a
16	chr5:17522582-17522632	HRCEpiC	kidney:	n/a
17	chr5:17522582-17522632	CMK	blood:	n/a
18	chr5:17580826-17580876	HepG2	liver:	n/a
19	chr5:17517201-17517251	LNCaP	prostate:	n/a
20	chr5:17524561-17524611	PANC-1	pancreas:	n/a
21	chr5:17519013-17519063	HRPEpiC	eye:	n/a
22	chr5:17604867-17604917	HNPCEpiC	eye:	n/a
23	chr5:17522582-17522632	HCT-116	colon:	n/a
24	chr5:17527430-17527480	GM06990	blood:	n/a
25	chr5:17527430-17527480	AoSMC	blood vessel:	n/a
26	chr5:17524561-17524611	HEK293	kidney:	embryo
27	chr5:17517201-17517251	AG09309	skin:	n/a
28	chr5:17517201-17517251	NHDF-neo	bronchial:	n/a
29	chr5:17524561-17524611	AG04450	lung:	fetal
30	chr5:17524561-17524611	LNCaP	prostate:	n/a
31	chr5:17522582-17522632	NB4	blood:	n/a
32	chr5:17522582-17522632	AG04450	lung:	fetal
33	chr5:17604867-17604917	GM06990	blood:	n/a
34	chr5:17580826-17580876	Hepatocyte	liver:	n/a
35	chr5:17527430-17527480	SK-N-MC	brain:	n/a
36	chr5:17524561-17524611	MCF-7	breast:	n/a
37	chr5:17595441-17595491	HRE	kidney:	n/a
38	chr5:17595441-17595491	HAEpiC	amniotic membrane:	n/a
39	chr5:17522582-17522632	NT2-D1	testis:	n/a
40	chr5:17519013-17519063	HCM	heart:	n/a
41	chr5:17528991-17529041	HEEpiC	esophagus:	n/a
42	chr5:17517201-17517251	HCF	heart:	n/a
43	chr5:17527430-17527480	AG09319	gingival:	n/a
44	chr5:17524561-17524611	BJ	skin:	n/a
45	chr5:17527430-17527480	HRE	kidney:	n/a
46	chr5:17604867-17604917	AG09319	gingival:	n/a
47	chr5:17580826-17580876	A549	lung:	n/a
48	chr5:17527430-17527480	HCPEpiC	choroid plexus:	n/a
49	chr5:17595441-17595491	GM06990	blood:	n/a
50	chr5:17604867-17604917	HepG2	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO10-12	chr5:17587399-17587632	NONHSAT100653

No data

Variant related genes	Relation type
ENSG00000249427	TF binding region
ENSG00000249282	TF binding region
ENSG00000248861	TF binding region
ENSG00000250558	TF binding region
ENSG00000248205	TF binding region
ENSG00000250807	TF binding region
ENSG00000250667	TF binding region
ENSG00000250296	TF binding region
ENSG00000250055	TF binding region
ENSG00000248422	TF binding region
ENSG00000249339	TF binding region
ENSG00000271296	TF binding region
ENSG00000250351	TF binding region
ENSG00000249329	TF binding region
ENSG00000249357	TF binding region
ENSG00000249156	TF binding region
ENSG00000250088	TF binding region
ENSG00000249620	TF binding region
ENSG00000249427	CpG island
ENSG00000249282	CpG island
ENSG00000248861	CpG island
ENSG00000250558	CpG island
ENSG00000248205	CpG island
ENSG00000250807	CpG island
ENSG00000250667	CpG island
ENSG00000250296	CpG island
ENSG00000250055	CpG island
ENSG00000248422	CpG island
ENSG00000249339	CpG island
ENSG00000271296	CpG island
ENSG00000250351	CpG island
ENSG00000249329	CpG island
ENSG00000249357	CpG island
ENSG00000249156	CpG island
ENSG00000250088	CpG island
ENSG00000249620	CpG island

Extended variants
information (count: 1019 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62348802	chr5:17500819-17500820	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577485914	chr5:17500834-17500835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574030789	chr5:17500835-17500836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191523851	chr5:17500840-17500841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527438289	chr5:17500855-17500856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547636574	chr5:17500858-17500859	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564339749	chr5:17500859-17500860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371420273	chr5:17500877-17500878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200824634	chr5:17500879-17500880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77806880	chr5:17500893-17500894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74370075	chr5:17500894-17500895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs77711076	chr5:17500898-17500899	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116819364	chr5:17500905-17500906	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549885264	chr5:17500926-17500927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs150775112	chr5:17500945-17500946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73056893	chr5:17500968-17500969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114881485	chr5:17500983-17500984	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115824621	chr5:17500995-17500996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs549415654	chr5:17500997-17500998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75813303	chr5:17502216-17502217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79915306	chr5:17502218-17502219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184777369	chr5:17502222-17502223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541174162	chr5:17502224-17502225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189191642	chr5:17502230-17502231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs33935394	chr5:17502233-17502234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6895222	chr5:17502240-17502241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72740599	chr5:17502248-17502249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76470883	chr5:17502262-17502263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543255696	chr5:17502273-17502274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569587669	chr5:17502274-17502275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529188993	chr5:17502283-17502284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542989745	chr5:17502287-17502288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368433097	chr5:17502290-17502291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73056895	chr5:17502315-17502316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559348162	chr5:17502340-17502341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs66837607	chr5:17502343-17502344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375194402	chr5:17502344-17502345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78112686	chr5:17502349-17502350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533653986	chr5:17502361-17502362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528558952	chr5:17502369-17502370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72740601	chr5:17502391-17502392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72742604	chr5:17502393-17502394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147178143	chr5:17502405-17502406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72494121	chr5:17502429-17502430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs68058329	chr5:17502434-17502435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550911916	chr5:17502436-17502437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2457735	chr5:17502472-17502473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs67008745	chr5:17502483-17502484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563433318	chr5:17502500-17502501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73056900	chr5:17502536-17502537	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17500600-17501000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:17500600-17501000	Active TSS	NHDF-Ad	bronchial
3	chr5:17502200-17503000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:17509000-17509400	Enhancers	Fetal Brain Male	brain
5	chr5:17512000-17512200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:17512200-17512400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:17512200-17512400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17512400-17512600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:17512600-17517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:17512600-17519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:17513600-17514600	Enhancers	A549	lung
12	chr5:17517400-17517600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:17517600-17518000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:17517600-17518000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:17517800-17518000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr5:17517800-17518000	Flanking Bivalent TSS/Enh	Lung	lung
17	chr5:17517800-17518000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
18	chr5:17517800-17518000	Bivalent/Poised TSS	Small Intestine	intestine
19	chr5:17517800-17518000	Bivalent/Poised TSS	Hela-S3	cervix
20	chr5:17526600-17527000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr5:17526600-17527000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:17526600-17527000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:17526600-17527000	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr5:17526800-17527000	Bivalent Enhancer	Small Intestine	intestine
25	chr5:17593600-17598800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:17604200-17604600	Enhancers	Lung	lung
27	chr5:17604200-17604600	Enhancers	Hela-S3	cervix
28	chr5:17607400-17607600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:17616600-17616800	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr5:17619200-17620600	Enhancers	Hela-S3	cervix
31	chr5:17620600-17621000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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