Variant report

Variant	nsv882153
Chromosome Location	chr5:70376491-70498086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:463)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:70405611-70405957	GM12878	blood:	n/a	n/a
2	BATF	chr5:70473436-70473649	GM12878	blood:	n/a	n/a
3	BATF	chr5:70456678-70456913	GM12878	blood:	n/a	n/a
4	BATF	chr5:70473270-70473572	GM12878	blood:	n/a	n/a
5	BATF	chr5:70456649-70456978	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:70405618-70405863	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:70456762-70456944	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:70497555-70497741	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:70467406-70467579	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:70491903-70492088	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:70466178-70466577	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:70456746-70456985	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:70466234-70466446	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:70493340-70493531	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:70476360-70476599	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:70473739-70473978	HepG2	liver:	n/a	n/a
17	BHLHE40	chr5:70495349-70495582	HepG2	liver:	n/a	n/a
18	BHLHE40	chr5:70435263-70435547	HepG2	liver:	n/a	n/a
19	BHLHE40	chr5:70467222-70467633	HepG2	liver:	n/a	n/a
20	CEBPB	chr5:70393343-70393363	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:70385733-70385788	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr5:70446874-70446893	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr5:70428707-70429042	A549	lung:	n/a	n/a
24	CTCF	chr5:70385770-70385788	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:70404662-70404717	GM20000	blood:	n/a	n/a
26	CTCF	chr5:70406640-70406790	HepG2	liver:	n/a	n/a
27	CTCF	chr5:70385705-70385851	LNCaP	prostate:	n/a	n/a
28	CTCF	chr5:70385728-70385809	K562	blood:	n/a	n/a
29	CTCF	chr5:70424084-70424268	A549	lung:	n/a	n/a
30	CTCF	chr5:70424058-70424359	K562	blood:	n/a	n/a
31	CTCF	chr5:70377349-70377412	GM10266	blood:	n/a	n/a
32	CTCF	chr5:70424036-70424400	K562	blood:	n/a	n/a
33	CTCF	chr5:70380705-70380760	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr5:70388427-70388465	GM13976	blood:	n/a	n/a
35	CTCF	chr5:70464449-70464557	GM10248	blood:	n/a	n/a
36	CTCF	chr5:70383836-70383906	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr5:70395583-70395619	GM13976	blood:	n/a	n/a
38	CTCF	chr5:70424032-70424373	K562	blood:	n/a	n/a
39	CTCF	chr5:70475612-70475692	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr5:70385692-70385868	LNCaP	prostate:	n/a	n/a
41	CTCF	chr5:70424038-70424417	A549	lung:	n/a	n/a
42	EBF1	chr5:70456659-70457062	GM12878	blood:	n/a	n/a
43	EBF1	chr5:70491505-70491704	GM12878	blood:	n/a	n/a
44	EBF1	chr5:70469655-70469864	GM12878	blood:	n/a	n/a
45	EBF1	chr5:70467612-70467799	GM12878	blood:	n/a	n/a
46	EBF1	chr5:70456755-70457006	GM12878	blood:	n/a	n/a
47	EBF1	chr5:70478233-70478433	GM12878	blood:	n/a	n/a
48	EBF1	chr5:70465741-70466078	GM12878	blood:	n/a	n/a
49	EP300	chr5:70467364-70467595	GM12878	blood:	n/a	n/a
50	EP300	chr5:70491088-70491275	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H2-7	chr5:70493473-70493614	NONHSAT102003
2	lnc-GTF2H2-7	chr5:70492974-70493188	NONHSAT102005
3	lnc-GTF2H2-7	chr5:70493473-70493608	NONHSAT102005
4	lnc-GTF2H2-7	chr5:70438472-70438586	NONHSAT102003
5	lnc-GTF2H2-7	chr5:70435716-70435861	NONHSAT102003
6	lnc-SMN1-3	chr5:70485544-70485865	NONHSAT102004
7	lnc-SMN1-2	chr5:70378669-70379081	NONHSAT101998

No data

Variant related genes	Relation type
ENSG00000251634	TF binding region
ENSG00000238451	TF binding region
ENSG00000230847	TF binding region
CDH12P4	TF binding region
GUSBP9	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112838335	chr5:70378824-70378825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs571145621	chr5:70378969-70378970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs111546804	chr5:70382815-70382816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571714056	chr5:70390862-70390863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560670519	chr5:70390863-70390864	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374017344	chr5:70390992-70390993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2576913	chr5:70391033-70391034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371837997	chr5:70391189-70391190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527941338	chr5:70391198-70391199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538800856	chr5:70391201-70391202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536521084	chr5:70391512-70391513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554860672	chr5:70391562-70391563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191318083	chr5:70391589-70391590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181282271	chr5:70391601-70391602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564774729	chr5:70391613-70391614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185911915	chr5:70391684-70391685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544010821	chr5:70391693-70391694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375425576	chr5:70391704-70391705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188187133	chr5:70391738-70391739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs562679834	chr5:70391755-70391756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561114840	chr5:70391902-70391903	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548468824	chr5:70391914-70391915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs199530357	chr5:70391951-70391952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560467513	chr5:70392022-70392023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs528444650	chr5:70392250-70392251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs547010318	chr5:70392313-70392314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571589525	chr5:70392339-70392340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571026536	chr5:70392378-70392379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539103933	chr5:70392388-70392389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs550819951	chr5:70392422-70392423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2576914	chr5:70392423-70392424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs10067215	chr5:70392462-70392463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs536458838	chr5:70392512-70392513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535525384	chr5:70392667-70392668	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573198562	chr5:70392672-70392673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs183369498	chr5:70392676-70392677	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558509154	chr5:70392678-70392679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188014945	chr5:70392717-70392718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs375094620	chr5:70392780-70392781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199818797	chr5:70392972-70392973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544267470	chr5:70392979-70392980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562459075	chr5:70393007-70393008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574642350	chr5:70393175-70393176	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532536179	chr5:70393177-70393178	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs542046240	chr5:70393322-70393323	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs560433632	chr5:70393328-70393329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs527573010	chr5:70393333-70393334	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373928106	chr5:70393356-70393357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552218373	chr5:70393358-70393359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376690056	chr5:70393524-70393525	Enhancers Weak transcription	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
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
Pseudo-TORCH syndrome	20727516	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70392600-70395000	Weak transcription	Lung	lung
2	chr5:70392600-70395800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:70393400-70393800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:70393400-70393800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:70393400-70400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:70393600-70393800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:70393600-70394200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:70393600-70394200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:70397400-70408400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:70398800-70408400	Weak transcription	Ovary	ovary
11	chr5:70404800-70408200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:70404800-70408200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:70404800-70408200	Weak transcription	Fetal Stomach	stomach
14	chr5:70405600-70408000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:70405600-70408000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:70405600-70408000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:70405600-70408000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:70405600-70408000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:70405600-70408000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:70405600-70408000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:70484800-70485000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:70492000-70494200	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:70492000-70494200	Weak transcription	Fetal Thymus	thymus
24	chr5:70492200-70494600	Weak transcription	Dnd41	blood
25	chr5:70492400-70494800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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