Variant report

Variant	nsv598638
Chromosome Location	chr5:70398523-70488200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:70456678-70456913	GM12878	blood:	n/a	n/a
2	BATF	chr5:70456649-70456978	GM12878	blood:	n/a	n/a
3	BATF	chr5:70473436-70473649	GM12878	blood:	n/a	n/a
4	BATF	chr5:70405611-70405957	GM12878	blood:	n/a	n/a
5	BATF	chr5:70473270-70473572	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:70456762-70456944	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:70466234-70466446	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:70456746-70456985	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:70467406-70467579	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70405618-70405863	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70466178-70466577	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:70435263-70435547	HepG2	liver:	n/a	n/a
13	BHLHE40	chr5:70476360-70476599	HepG2	liver:	n/a	n/a
14	BHLHE40	chr5:70473739-70473978	HepG2	liver:	n/a	n/a
15	BHLHE40	chr5:70467222-70467633	HepG2	liver:	n/a	n/a
16	CTCF	chr5:70424036-70424400	K562	blood:	n/a	n/a
17	CTCF	chr5:70424058-70424359	K562	blood:	n/a	n/a
18	CTCF	chr5:70428707-70429042	A549	lung:	n/a	n/a
19	CTCF	chr5:70406640-70406790	HepG2	liver:	n/a	n/a
20	CTCF	chr5:70424084-70424268	A549	lung:	n/a	n/a
21	CTCF	chr5:70424032-70424373	K562	blood:	n/a	n/a
22	CTCF	chr5:70446874-70446893	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr5:70464449-70464557	GM10248	blood:	n/a	n/a
24	CTCF	chr5:70424038-70424417	A549	lung:	n/a	n/a
25	CTCF	chr5:70475612-70475692	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr5:70404662-70404717	GM20000	blood:	n/a	n/a
27	EBF1	chr5:70467612-70467799	GM12878	blood:	n/a	n/a
28	EBF1	chr5:70469655-70469864	GM12878	blood:	n/a	n/a
29	EBF1	chr5:70465741-70466078	GM12878	blood:	n/a	n/a
30	EBF1	chr5:70456659-70457062	GM12878	blood:	n/a	n/a
31	EBF1	chr5:70456755-70457006	GM12878	blood:	n/a	n/a
32	EBF1	chr5:70478233-70478433	GM12878	blood:	n/a	n/a
33	EP300	chr5:70467180-70467642	GM12878	blood:	n/a	n/a
34	EP300	chr5:70456615-70456954	GM12878	blood:	n/a	n/a
35	EP300	chr5:70467364-70467595	GM12878	blood:	n/a	n/a
36	EP300	chr5:70424048-70424247	GM12878	blood:	n/a	n/a
37	EP300	chr5:70484632-70485067	GM12878	blood:	n/a	n/a
38	FOS	chr5:70432697-70432899	MCF10A-Er-Src	breast:	n/a	chr5:70432717-70432726 chr5:70432718-70432727
39	FOS	chr5:70432703-70432755	MCF10A-Er-Src	breast:	n/a	chr5:70432717-70432726 chr5:70432718-70432727
40	FOS	chr5:70432703-70432896	MCF10A-Er-Src	breast:	n/a	chr5:70432717-70432726 chr5:70432718-70432727
41	FOSL2	chr5:70472079-70472472	HepG2	liver:	n/a	n/a
42	FOSL2	chr5:70418295-70418702	HepG2	liver:	n/a	n/a
43	FOSL2	chr5:70423641-70424491	HepG2	liver:	n/a	n/a
44	FOSL2	chr5:70472649-70472903	HepG2	liver:	n/a	n/a
45	FOSL2	chr5:70423930-70424415	HepG2	liver:	n/a	n/a
46	FOSL2	chr5:70451846-70452180	HepG2	liver:	n/a	n/a
47	FOSL2	chr5:70424984-70425310	HepG2	liver:	n/a	n/a
48	FOSL2	chr5:70484772-70485110	HepG2	liver:	n/a	n/a
49	FOSL2	chr5:70422152-70422621	HepG2	liver:	n/a	chr5:70422413-70422421
50	FOSL2	chr5:70423623-70423865	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003
2	lnc-SMN1-3	chr5:70485544-70485865	NONHSAT102004
3	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003

Variant related genes	Relation type
ENSG00000251634	TF binding region
CDH12P4	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78443300	chr5:70398523-70398524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555874186	chr5:70398711-70398712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568094971	chr5:70398720-70398721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192822702	chr5:70398749-70398750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372532043	chr5:70398769-70398770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553921941	chr5:70398779-70398780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572233206	chr5:70398785-70398786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545685962	chr5:70398793-70398794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557979420	chr5:70398827-70398828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576248488	chr5:70398835-70398836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184813895	chr5:70398844-70398845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575860057	chr5:70398863-70398864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530057269	chr5:70398976-70398977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541885682	chr5:70399007-70399008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113088749	chr5:70399062-70399063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370040100	chr5:70399066-70399067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560221214	chr5:70399087-70399088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527837186	chr5:70399107-70399108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552490458	chr5:70399148-70399149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35905805	chr5:70399158-70399159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs531893340	chr5:70399165-70399166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550519188	chr5:70399166-70399167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35319048	chr5:70399167-70399168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs535454608	chr5:70399216-70399217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376691181	chr5:70399220-70399221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187831290	chr5:70399354-70399355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565777359	chr5:70399378-70399379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201161510	chr5:70399507-70399508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374867158	chr5:70399511-70399512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539560396	chr5:70399533-70399534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191390789	chr5:70399550-70399551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576215221	chr5:70399596-70399597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373111301	chr5:70399599-70399600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555255837	chr5:70399604-70399605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574451678	chr5:70399678-70399679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62372689	chr5:70399773-70399774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200636450	chr5:70399822-70399823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184644752	chr5:70399826-70399827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189189587	chr5:70399830-70399831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74932750	chr5:70399832-70399833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564498568	chr5:70399883-70399884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540675372	chr5:70399966-70399967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150192438	chr5:70399991-70399992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373720101	chr5:70399992-70399993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550458215	chr5:70399993-70399994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562373986	chr5:70400000-70400001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112440875	chr5:70400017-70400018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547408527	chr5:70400126-70400127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565703742	chr5:70400167-70400168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376850610	chr5:70400188-70400189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Spinal muscular atrophy	21762474	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
Breast cancer	21785460	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
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	22549408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Disease	19212409	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Recurrent pregnancy loss	19789632	CNVD
Schizophrenia	21346763	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	chr5:70393400-70400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:70397400-70408400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:70398800-70408400	Weak transcription	Ovary	ovary
4	chr5:70404800-70408200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:70404800-70408200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:70404800-70408200	Weak transcription	Fetal Stomach	stomach
7	chr5:70405600-70408000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:70405600-70408000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:70405600-70408000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:70405600-70408000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:70405600-70408000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:70405600-70408000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:70405600-70408000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:70484800-70485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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