Variant report

Variant	nsv880395
Chromosome Location	chr5:29372581-29466930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:29431656-29431817	K562	blood:	n/a	n/a
2	ATF1	chr5:29425063-29425178	K562	blood:	n/a	n/a
3	ATF1	chr5:29425986-29425989	K562	blood:	n/a	n/a
4	BACH1	chr5:29433080-29433172	K562	blood:	n/a	n/a
5	CEBPB	chr5:29386189-29386287	HepG2	liver:	n/a	chr5:29386206-29386217
6	CEBPB	chr5:29424882-29425230	A549	lung:	n/a	chr5:29425044-29425055
7	CEBPB	chr5:29387025-29387424	HepG2	liver:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
8	CEBPB	chr5:29414090-29414343	K562	blood:	n/a	n/a
9	CEBPB	chr5:29390980-29391087	K562	blood:	n/a	chr5:29391028-29391039
10	CEBPB	chr5:29391032-29391067	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr5:29390959-29391192	HepG2	liver:	n/a	chr5:29391028-29391039
12	CEBPB	chr5:29433358-29433700	HepG2	liver:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
13	CEBPB	chr5:29387081-29387400	Hela-S3	cervix:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
14	CEBPB	chr5:29413274-29413380	A549	lung:	n/a	chr5:29413367-29413380 chr5:29413367-29413378
15	CEBPB	chr5:29433374-29433733	IMR90	lung:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
16	CEBPB	chr5:29425611-29425821	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr5:29387050-29387411	IMR90	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
18	CEBPB	chr5:29433473-29433683	K562	blood:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
19	CEBPB	chr5:29465576-29465792	HepG2	liver:	n/a	chr5:29465710-29465721
20	CEBPB	chr5:29387041-29387392	A549	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
21	CEBPB	chr5:29377734-29377818	HepG2	liver:	n/a	chr5:29377787-29377800 chr5:29377787-29377800 chr5:29377787-29377798 chr5:29377787-29377798 chr5:29377788-29377799
22	CEBPB	chr5:29387091-29387291	H1-hESC	embryonic stem cell:	n/a	chr5:29387204-29387215
23	CEBPB	chr5:29459773-29459805	K562	blood:	n/a	n/a
24	CEBPB	chr5:29424874-29425236	HepG2	liver:	n/a	chr5:29425044-29425055
25	CHD2	chr5:29382929-29383024	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr5:29432942-29433044	K562	blood:	n/a	n/a
27	CTCF	chr5:29379647-29379652	GM13976	blood:	n/a	n/a
28	CTCF	chr5:29449131-29449185	GM13976	blood:	n/a	n/a
29	CTCF	chr5:29436124-29436217	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr5:29379653-29379708	GM13976	blood:	n/a	n/a
31	CTCF	chr5:29418998-29419090	GM13976	blood:	n/a	n/a
32	CTCF	chr5:29397806-29397832	GM20000	blood:	n/a	n/a
33	CTCF	chr5:29430100-29430250	AG10803	skin:	n/a	n/a
34	CTCF	chr5:29436800-29436950	GM06990	blood:	n/a	n/a
35	CTCF	chr5:29444410-29444477	GM10248	blood:	n/a	n/a
36	CTCF	chr5:29409126-29409166	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr5:29430620-29430770	AG10803	skin:	n/a	n/a
38	CTCF	chr5:29464636-29464740	Lung_OC	lung:	n/a	n/a
39	CTCF	chr5:29394960-29394991	GM10266	blood:	n/a	n/a
40	CTCF	chr5:29422074-29422156	GM13976	blood:	n/a	n/a
41	CTCF	chr5:29433060-29433210	AG10803	skin:	n/a	n/a
42	CTCF	chr5:29432240-29432390	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr5:29449645-29449703	ProgFib	skin:	n/a	n/a
44	CUX1	chr5:29433555-29433729	K562	blood:	n/a	n/a
45	CUX1	chr5:29426609-29426621	GM12878	blood:	n/a	n/a
46	E2F4	chr5:29418923-29419123	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr5:29374704-29374907	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr5:29429967-29430903	MCF10A-Er-Src	breast:	n/a	n/a
49	EBF1	chr5:29405141-29405158	GM12878	blood:	n/a	n/a
50	EP300	chr5:29457823-29457902	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:29374107..29376875-chr5:29377791..29380634,2	K562	blood:
2	chr5:29394432..29396496-chr5:29400311..29402057,2	MCF-7	breast:
3	chr5:29374107..29376875-chr5:29377791..29380634,2	K562	blood:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
2	lnc-DROSHA-7	chr5:29395961-29396088	XLOC_004765
3	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
4	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
5	lnc-DROSHA-7	chr5:29380373-29380432	XLOC_004765
6	lnc-DROSHA-12	chr5:29425675-29425803	l_2897_chr5:29390052-29431912_testes
7	lnc-DROSHA-12	chr5:29399178-29399246	l_2897_chr5:29390052-29431912_testes
8	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
9	lnc-DROSHA-12	chr5:29417717-29417826	l_2897_chr5:29390052-29431912_testes
10	lnc-DROSHA-7	chr5:29395961-29396083	NR_104628
11	lnc-DROSHA-12	chr5:29390053-29390256	l_2897_chr5:29390052-29431912_testes
12	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
13	lnc-DROSHA-7	chr5:29389918-29390046	NR_104628
14	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
15	lnc-DROSHA-7	chr5:29380403-29380432	XLOC_004765
16	lnc-DROSHA-12	chr5:29431718-29431912	l_2897_chr5:29390052-29431912_testes
17	lnc-DROSHA-7	chr5:29389918-29390047	XLOC_004765
18	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
19	lnc-DROSHA-7	chr5:29380196-29380432	NR_104628
20	lnc-DROSHA-7	chr5:29384427-29384499	NR_104628
21	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
22	lnc-DROSHA-7	chr5:29383211-29383410	XLOC_004765
23	lnc-DROSHA-7	chr5:29389918-29390046	XLOC_004765
24	lnc-DROSHA-12	chr5:29415951-29416189	l_2897_chr5:29390052-29431912_testes
25	lnc-DROSHA-12	chr5:29420161-29420256	l_2897_chr5:29390052-29431912_testes
26	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
27	lnc-DROSHA-12	chr5:29391719-29391826	l_2897_chr5:29390052-29431912_testes
28	lnc-DROSHA-7	chr5:29381960-29382069	NR_104628
29	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
30	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765

No data

Variant related genes	Relation type
ENSG00000248391	TF binding region
ENSG00000248391	chromatin interactions
AGPAT3	miRNA target sites
SERPINB2	miRNA target sites
SGMS1	miRNA target sites
FMNL2	miRNA target sites
AHCTF1	miRNA target sites
AGXT2L1	miRNA target sites
AGL	miRNA target sites
AGK	miRNA target sites

Extended variants
information (count: 903 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:903 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536439176	chr5:29380228-29380229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs554516598	chr5:29380266-29380267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs368815131	chr5:29380287-29380288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537214527	chr5:29380295-29380296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576068287	chr5:29380325-29380326	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs78282122	chr5:29380331-29380332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182202391	chr5:29380336-29380337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs114039470	chr5:29380349-29380350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187393684	chr5:29380390-29380391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs146335616	chr5:29381967-29381968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs533916898	chr5:29382021-29382022	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs139610887	chr5:29382024-29382025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs368477194	chr5:29382027-29382028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs193225140	chr5:29382029-29382030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs73071762	chr5:29382670-29382671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6865500	chr5:29382710-29382711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79337277	chr5:29382736-29382737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538885504	chr5:29382758-29382759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558830926	chr5:29382855-29382856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151318986	chr5:29382882-29382883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13358273	chr5:29382883-29382884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553578639	chr5:29382915-29382916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6869484	chr5:29382922-29382923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190080108	chr5:29382924-29382925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563638244	chr5:29382944-29382945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566845235	chr5:29382954-29382955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575730318	chr5:29382971-29382972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546070331	chr5:29382983-29382984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555743571	chr5:29382999-29383000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528434661	chr5:29383006-29383007	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368524193	chr5:29383078-29383079	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535817189	chr5:29383101-29383102	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554903961	chr5:29383121-29383122	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371916012	chr5:29383178-29383179	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528949862	chr5:29383189-29383190	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550676299	chr5:29383203-29383204	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568470975	chr5:29383232-29383233	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs539056290	chr5:29383233-29383234	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs551002754	chr5:29383241-29383242	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570807469	chr5:29383242-29383243	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs35211855	chr5:29383270-29383271	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs75213178	chr5:29383326-29383327	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs181217053	chr5:29383327-29383328	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs140552686	chr5:29383357-29383358	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs527281419	chr5:29384441-29384442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs546934825	chr5:29384462-29384463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs79790000	chr5:29384463-29384464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs112074322	chr5:29384483-29384484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs57203071	chr5:29389926-29389927	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115315813	chr5:29389929-29389930	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29382600-29383200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:29382600-29383200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:29383000-29383400	Active TSS	HepG2	liver
4	chr5:29408200-29408400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:29408400-29410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:29410800-29411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:29417600-29418000	Enhancers	Fetal Brain Male	brain
8	chr5:29417600-29418000	Enhancers	Psoas Muscle	Psoas
9	chr5:29429200-29429400	ZNF genes & repeats	Pancreas	Pancrea
10	chr5:29433000-29433200	Enhancers	Aorta	Aorta
11	chr5:29450400-29450800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:29456800-29461400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:29461200-29461600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:29461200-29461600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:29461400-29461800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:29461600-29462800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:29461800-29467000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:29462400-29463000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:29462800-29463000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr5:29463000-29464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:29464000-29464200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:29466200-29468200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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