Variant report

Variant	nsv881794
Chromosome Location	chr5:69114646-69336461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2354)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2354 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:69125228-69125432	GM12878	blood:	n/a	n/a
2	BATF	chr5:69202749-69202904	GM12878	blood:	n/a	n/a
3	BATF	chr5:69145392-69145662	GM12878	blood:	n/a	n/a
4	BATF	chr5:69236505-69236709	GM12878	blood:	n/a	n/a
5	BATF	chr5:69167339-69167620	GM12878	blood:	n/a	chr5:69167542-69167551
6	BATF	chr5:69141383-69141696	GM12878	blood:	n/a	n/a
7	BATF	chr5:69204507-69204792	GM12878	blood:	n/a	n/a
8	BATF	chr5:69142126-69142529	GM12878	blood:	n/a	n/a
9	BATF	chr5:69124233-69124483	GM12878	blood:	n/a	chr5:69124241-69124250
10	BATF	chr5:69141422-69141726	GM12878	blood:	n/a	n/a
11	BATF	chr5:69119813-69120055	GM12878	blood:	n/a	n/a
12	BATF	chr5:69142777-69143204	GM12878	blood:	n/a	n/a
13	BATF	chr5:69153214-69153488	GM12878	blood:	n/a	n/a
14	BATF	chr5:69144491-69144702	GM12878	blood:	n/a	n/a
15	BATF	chr5:69204504-69204870	GM12878	blood:	n/a	n/a
16	BATF	chr5:69176283-69176488	GM12878	blood:	n/a	n/a
17	BATF	chr5:69149879-69150161	GM12878	blood:	n/a	n/a
18	BATF	chr5:69123217-69123446	GM12878	blood:	n/a	n/a
19	BATF	chr5:69182465-69183246	GM12878	blood:	n/a	n/a
20	BATF	chr5:69138821-69139194	GM12878	blood:	n/a	n/a
21	BATF	chr5:69168322-69168537	GM12878	blood:	n/a	n/a
22	BATF	chr5:69170710-69170923	GM12878	blood:	n/a	chr5:69170849-69170860
23	BATF	chr5:69167723-69168005	GM12878	blood:	n/a	n/a
24	BATF	chr5:69181518-69181721	GM12878	blood:	n/a	n/a
25	BATF	chr5:69153486-69154002	GM12878	blood:	n/a	n/a
26	BATF	chr5:69184957-69185301	GM12878	blood:	n/a	n/a
27	BATF	chr5:69143881-69144297	GM12878	blood:	n/a	n/a
28	BATF	chr5:69145333-69145776	GM12878	blood:	n/a	n/a
29	BATF	chr5:69135560-69135835	GM12878	blood:	n/a	chr5:69135678-69135689 chr5:69135679-69135689
30	BATF	chr5:69127793-69128030	GM12878	blood:	n/a	n/a
31	BATF	chr5:69182474-69183251	GM12878	blood:	n/a	n/a
32	BATF	chr5:69147263-69147764	GM12878	blood:	n/a	n/a
33	BATF	chr5:69139249-69139763	GM12878	blood:	n/a	n/a
34	BATF	chr5:69142802-69143075	GM12878	blood:	n/a	n/a
35	BATF	chr5:69253202-69253437	GM12878	blood:	n/a	n/a
36	BATF	chr5:69135541-69135831	GM12878	blood:	n/a	chr5:69135678-69135689 chr5:69135679-69135689
37	BATF	chr5:69183520-69183756	GM12878	blood:	n/a	n/a
38	BATF	chr5:69321084-69321348	GM12878	blood:	n/a	n/a
39	BATF	chr5:69139028-69139765	GM12878	blood:	n/a	n/a
40	BATF	chr5:69139860-69140443	GM12878	blood:	n/a	n/a
41	BATF	chr5:69151861-69152084	GM12878	blood:	n/a	n/a
42	BATF	chr5:69180881-69181308	GM12878	blood:	n/a	n/a
43	BATF	chr5:69143592-69143854	GM12878	blood:	n/a	n/a
44	BATF	chr5:69140484-69141085	GM12878	blood:	n/a	n/a
45	BATF	chr5:69116231-69116416	GM12878	blood:	n/a	n/a
46	BATF	chr5:69144312-69144717	GM12878	blood:	n/a	n/a
47	BATF	chr5:69189691-69189906	GM12878	blood:	n/a	n/a
48	BATF	chr5:69139874-69140159	GM12878	blood:	n/a	n/a
49	BATF	chr5:69253137-69253466	GM12878	blood:	n/a	n/a
50	BATF	chr5:69173823-69174059	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:69325031-69325081	RPTEC	kidney:	n/a
2	chr5:69325031-69325081	Jurkat	blood:	n/a
3	chr5:69325031-69325081	BJ	skin:	n/a
4	chr5:69325031-69325081	SKMC	muscle:	n/a
5	chr5:69325031-69325081	HCM	heart:	n/a
6	chr5:69325031-69325081	HUVEC	blood vessel:	n/a
7	chr5:69325031-69325081	GM12878	blood:	n/a
8	chr5:69325031-69325081	HCPEpiC	choroid plexus:	n/a
9	chr5:69325031-69325081	AG04449	skin:	fetal
10	chr5:69325031-69325081	SK-N-MC	brain:	n/a
11	chr5:69325031-69325081	GM12892	blood:	n/a
12	chr5:69325031-69325081	PrEC	prostate:	n/a
13	chr5:69325031-69325081	AG04450	lung:	fetal
14	chr5:69325031-69325081	HepG2	liver:	n/a
15	chr5:69325031-69325081	HRE	kidney:	n/a
16	chr5:69325031-69325081	LNCaP	prostate:	n/a
17	chr5:69325031-69325081	BE2_C	brain:	n/a
18	chr5:69325031-69325081	HIPEpiC	eye:	n/a
19	chr5:69325031-69325081	PANC-1	pancreas:	n/a
20	chr5:69325031-69325081	Caco-2	colon:	n/a
21	chr5:69325031-69325081	AG10803	skin:	n/a
22	chr5:69325031-69325081	PFSK-1	brain:	n/a
23	chr5:69325031-69325081	SK-N-SH	brain:	n/a
24	chr5:69325031-69325081	NT2-D1	testis:	n/a
25	chr5:69325031-69325081	ProgFib	skin:	n/a
26	chr5:69325031-69325081	MCF-7	breast:	n/a
27	chr5:69325031-69325081	HRPEpiC	eye:	n/a
28	chr5:69325031-69325081	T-47D	breast:	n/a
29	chr5:69325031-69325081	HMEC	breast:	n/a
30	chr5:69325031-69325081	IMR90	lung:	fetal
31	chr5:69325031-69325081	NH-A	brain:	n/a
32	chr5:69325031-69325081	ovcar-3	ovarian:	n/a
33	chr5:69325031-69325081	GM19239	blood:	n/a
34	chr5:69325031-69325081	HAEpiC	amniotic membrane:	n/a
35	chr5:69325031-69325081	HCT-116	colon:	n/a
36	chr5:69325031-69325081	HL-60	blood:	n/a
37	chr5:69325031-69325081	HRCEpiC	kidney:	n/a
38	chr5:69325031-69325081	HCF	heart:	n/a
39	chr5:69325031-69325081	MCF10A-Er-Src	breast:	n/a
40	chr5:69325031-69325081	SK-N-SH_RA	brain:	n/a
41	chr5:69325031-69325081	U87	brain:	n/a
42	chr5:69325031-69325081	HEEpiC	esophagus:	n/a
43	chr5:69325031-69325081	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:69325031-69325081	ECC-1	luminal epithelium:	n/a
45	chr5:69325031-69325081	GM06990	blood:	n/a
46	chr5:69325031-69325081	SAEC	small airway:	n/a
47	chr5:69325031-69325081	HNPCEpiC	eye:	n/a
48	chr5:69325031-69325081	AG09319	gingival:	n/a
49	chr5:69325031-69325081	NHBE	bronchial:	n/a
50	chr5:69325031-69325081	H1-hESC	embryonic stem cell:	embryo

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAF9-7	chr5:69194137-69194892	NONHSAT101941
2	lnc-SMN2-1	chr5:69321390-69321558	NONHSAT101949
3	lnc-SERF1B-1	chr5:69292979-69293139	ENSG00000250763.1
4	lnc-SERF1B-1	chr5:69282778-69285949	ENSG00000250763.1
5	lnc-SMN2-1	chr5:69322234-69322342	NONHSAT101949
6	lnc-SMN2-1	chr5:69321821-69321880	NONHSAT101949
7	lnc-SERF1B-1	chr5:69216553-69216694	NONHSAT101945
8	lnc-SERF1B-1	chr5:69292979-69293569	ENSG00000250763.1
9	lnc-SERF1B-1	chr5:69274291-69274436	NONHSAT101945
10	lnc-SERF1B-1	chr5:69274357-69274884	ENSG00000250763.1
11	lnc-SERF1B-4	chr5:69249157-69249922	NONHSAT101946
12	lnc-SERF1B-1	chr5:69271565-69271679	NONHSAT101945

No data

Variant related genes	Relation type
ENSG00000198237	TF binding region
SERF1B	TF binding region
CDH12P2	TF binding region
ENSG00000251158	TF binding region
ENSG00000198237	CpG island
SERF1B	CpG island
CDH12P2	CpG island
ENSG00000251158	CpG island

Extended variants
information (count: 153 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62374340	chr5:69167037-69167038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191438063	chr5:69167614-69167615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371312058	chr5:69168686-69168687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551176410	chr5:69168727-69168728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374567045	chr5:69168728-69168729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375022454	chr5:69168889-69168890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569775838	chr5:69168921-69168922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377368592	chr5:69168922-69168923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs369127419	chr5:69168964-69168965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs11489165	chr5:69194610-69194611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs201778143	chr5:69199589-69199590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374279165	chr5:69200260-69200261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368199946	chr5:69200426-69200427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112765880	chr5:69200796-69200797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112423603	chr5:69201585-69201586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370769774	chr5:69202292-69202293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375689213	chr5:69202330-69202331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367618672	chr5:69202561-69202562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551308368	chr5:69202593-69202594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368591660	chr5:69203239-69203240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371369818	chr5:69203688-69203689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62374345	chr5:69203768-69203769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374685352	chr5:69203812-69203813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368043700	chr5:69203889-69203890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62374346	chr5:69203903-69203904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537020605	chr5:69204286-69204287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28409639	chr5:69206078-69206079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563156921	chr5:69206546-69206547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530258271	chr5:69206547-69206548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199599183	chr5:69206558-69206559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200509451	chr5:69206564-69206565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62374347	chr5:69206565-69206566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79855891	chr5:69206569-69206570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80196545	chr5:69206573-69206574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375925859	chr5:69206624-69206625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62374348	chr5:69207947-69207948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566891347	chr5:69209198-69209199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111876451	chr5:69209537-69209538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368996521	chr5:69209562-69209563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142445162	chr5:69209576-69209577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373090490	chr5:69209739-69209740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376806514	chr5:69209796-69209797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200196223	chr5:69209830-69209831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369795330	chr5:69210014-69210015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62374349	chr5:69210362-69210363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs891826	chr5:69210586-69210587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs833569	chr5:69210743-69210744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201136499	chr5:69212288-69212289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs62374350	chr5:69212720-69212721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76415406	chr5:69215959-69215960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	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
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:69202000-69211400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:69208600-69211000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:69208600-69211000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:69208600-69211000	Weak transcription	Thymus	Thymus
5	chr5:69209800-69210000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:69209800-69210000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:69323200-69324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:69323200-69324800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:69323200-69325400	Weak transcription	Brain Anterior Caudate	brain
10	chr5:69323600-69345000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:69323800-69326200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:69323800-69326600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:69324000-69326400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:69324800-69325000	Active TSS	Placenta	Placenta
15	chr5:69324800-69325200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:69324800-69325200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:69325000-69325200	Flanking Active TSS	Placenta	Placenta
18	chr5:69325200-69327800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:69325200-69344800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:69325400-69325800	Strong transcription	Brain Anterior Caudate	brain
21	chr5:69325800-69344800	Weak transcription	Brain Anterior Caudate	brain

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