Variant report

Variant	nsv881052
Chromosome Location	chr5:29301769-29440958
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	ATF1	chr5:29425063-29425178	K562	blood:	n/a	n/a
2	ATF1	chr5:29425986-29425989	K562	blood:	n/a	n/a
3	ATF1	chr5:29431656-29431817	K562	blood:	n/a	n/a
4	BACH1	chr5:29433080-29433172	K562	blood:	n/a	n/a
5	BRCA1	chr5:29307600-29307906	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:29311019-29311308	Hela-S3	cervix:	n/a	chr5:29311159-29311176 chr5:29311160-29311173
7	CEBPB	chr5:29433473-29433683	K562	blood:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
8	CEBPB	chr5:29351326-29351657	A549	lung:	n/a	chr5:29351485-29351496
9	CEBPB	chr5:29387081-29387400	Hela-S3	cervix:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
10	CEBPB	chr5:29337230-29337430	HepG2	liver:	n/a	chr5:29337327-29337338 chr5:29337343-29337354
11	CEBPB	chr5:29337241-29337370	K562	blood:	n/a	chr5:29337327-29337338 chr5:29337343-29337354
12	CEBPB	chr5:29386189-29386287	HepG2	liver:	n/a	chr5:29386206-29386217
13	CEBPB	chr5:29414090-29414343	K562	blood:	n/a	n/a
14	CEBPB	chr5:29377734-29377818	HepG2	liver:	n/a	chr5:29377787-29377800 chr5:29377787-29377800 chr5:29377787-29377798 chr5:29377787-29377798 chr5:29377788-29377799
15	CEBPB	chr5:29351339-29351626	H1-hESC	embryonic stem cell:	n/a	chr5:29351485-29351496
16	CEBPB	chr5:29433358-29433700	HepG2	liver:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
17	CEBPB	chr5:29387025-29387424	HepG2	liver:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
18	CEBPB	chr5:29424882-29425230	A549	lung:	n/a	chr5:29425044-29425055
19	CEBPB	chr5:29390980-29391087	K562	blood:	n/a	chr5:29391028-29391039
20	CEBPB	chr5:29351314-29351662	HepG2	liver:	n/a	chr5:29351485-29351496
21	CEBPB	chr5:29351313-29351656	K562	blood:	n/a	chr5:29351485-29351496
22	CEBPB	chr5:29391032-29391067	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr5:29387041-29387392	A549	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
24	CEBPB	chr5:29424874-29425236	HepG2	liver:	n/a	chr5:29425044-29425055
25	CEBPB	chr5:29425611-29425821	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr5:29337911-29338232	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr5:29337963-29338183	HepG2	liver:	n/a	n/a
28	CEBPB	chr5:29304567-29304995	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr5:29351326-29351669	Hela-S3	cervix:	n/a	chr5:29351485-29351496
30	CEBPB	chr5:29433374-29433733	IMR90	lung:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
31	CEBPB	chr5:29387091-29387291	H1-hESC	embryonic stem cell:	n/a	chr5:29387204-29387215
32	CEBPB	chr5:29310295-29310520	Hela-S3	cervix:	n/a	chr5:29310377-29310390 chr5:29310377-29310388
33	CEBPB	chr5:29390959-29391192	HepG2	liver:	n/a	chr5:29391028-29391039
34	CEBPB	chr5:29387050-29387411	IMR90	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
35	CEBPB	chr5:29413274-29413380	A549	lung:	n/a	chr5:29413367-29413380 chr5:29413367-29413378
36	CEBPB	chr5:29307586-29307932	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr5:29351316-29351665	IMR90	lung:	n/a	chr5:29351485-29351496
38	CEBPD	chr5:29331864-29332290	K562	blood:	n/a	n/a
39	CHD2	chr5:29432942-29433044	K562	blood:	n/a	n/a
40	CHD2	chr5:29382929-29383024	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr5:29409126-29409166	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr5:29367640-29367790	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr5:29367612-29367792	LNCaP	prostate:	n/a	n/a
44	CTCF	chr5:29430620-29430770	AG10803	skin:	n/a	n/a
45	CTCF	chr5:29367659-29367780	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:29367540-29367690	HRE	kidney:	n/a	n/a
47	CTCF	chr5:29430100-29430250	AG10803	skin:	n/a	n/a
48	CTCF	chr5:29433060-29433210	AG10803	skin:	n/a	n/a
49	CTCF	chr5:29367541-29367875	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr5:29367671-29367765	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:29367557..29368187-chr5:29811640..29812581,2	MCF-7	breast:
2	chr5:29367229..29368191-chr5:29697633..29698544,4	MCF-7	breast:
3	chr5:29394432..29396496-chr5:29400311..29402057,2	MCF-7	breast:
4	chr5:29374107..29376875-chr5:29377791..29380634,2	K562	blood:
5	chr5:29367148..29368248-chr5:29697562..29698574,8	MCF-7	breast:
6	chr5:29367263..29368784-chr5:29811787..29812627,6	MCF-7	breast:
7	chr5:29374107..29376875-chr5:29377791..29380634,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-12	chr5:29415951-29416189	l_2897_chr5:29390052-29431912_testes
2	lnc-DROSHA-7	chr5:29395961-29396088	XLOC_004765
3	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
4	lnc-DROSHA-7	chr5:29363459-29363489	XLOC_004765
5	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
6	lnc-DROSHA-12	chr5:29425675-29425803	l_2897_chr5:29390052-29431912_testes
7	lnc-DROSHA-12	chr5:29417717-29417826	l_2897_chr5:29390052-29431912_testes
8	lnc-DROSHA-12	chr5:29420161-29420256	l_2897_chr5:29390052-29431912_testes
9	lnc-DROSHA-7	chr5:29380373-29380432	XLOC_004765
10	lnc-DROSHA-7	chr5:29389918-29390046	NR_104628
11	lnc-DROSHA-7	chr5:29384427-29384499	NR_104628
12	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
13	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
14	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
15	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
16	lnc-DROSHA-7	chr5:29381960-29382069	NR_104628
17	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
18	lnc-DROSHA-7	chr5:29383211-29383410	XLOC_004765
19	lnc-DROSHA-12	chr5:29391719-29391826	l_2897_chr5:29390052-29431912_testes
20	lnc-DROSHA-12	chr5:29390053-29390256	l_2897_chr5:29390052-29431912_testes
21	lnc-DROSHA-7	chr5:29395961-29396083	NR_104628
22	lnc-DROSHA-12	chr5:29431718-29431912	l_2897_chr5:29390052-29431912_testes
23	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
24	lnc-DROSHA-7	chr5:29380196-29380432	NR_104628
25	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
26	lnc-DROSHA-7	chr5:29389918-29390047	XLOC_004765
27	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
28	lnc-DROSHA-7	chr5:29355912-29356069	XLOC_004765
29	lnc-DROSHA-12	chr5:29399178-29399246	l_2897_chr5:29390052-29431912_testes
30	lnc-DROSHA-7	chr5:29380403-29380432	XLOC_004765
31	lnc-DROSHA-7	chr5:29389918-29390046	XLOC_004765
32	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765

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

Extended variants
information (count: 657 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560724806	chr5:29304646-29304647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528028008	chr5:29304690-29304691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55897959	chr5:29304727-29304728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143382477	chr5:29304730-29304731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376688003	chr5:29304754-29304755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550121810	chr5:29304755-29304756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192939754	chr5:29304774-29304775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571678722	chr5:29304814-29304815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532623985	chr5:29304828-29304829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150594102	chr5:29304845-29304846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565869765	chr5:29304853-29304854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536410512	chr5:29304904-29304905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561908497	chr5:29304929-29304930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35166177	chr5:29304936-29304937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569935866	chr5:29304971-29304972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57945511	chr5:29305026-29305027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558507302	chr5:29305034-29305035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576902338	chr5:29305036-29305037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6865945	chr5:29305055-29305056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570541905	chr5:29305071-29305072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114935496	chr5:29305104-29305105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572317440	chr5:29305127-29305128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542780515	chr5:29305135-29305136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184579046	chr5:29305155-29305156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531864420	chr5:29305158-29305159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139596419	chr5:29305173-29305174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567409709	chr5:29305179-29305180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199824042	chr5:29305191-29305192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532356133	chr5:29305192-29305193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547878405	chr5:29305193-29305194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534623935	chr5:29305208-29305209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529935103	chr5:29305246-29305247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149722518	chr5:29305259-29305260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369354869	chr5:29305278-29305279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188288661	chr5:29305302-29305303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537340865	chr5:29305330-29305331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373347186	chr5:29305381-29305382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553795042	chr5:29305418-29305419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181075278	chr5:29305436-29305437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185283245	chr5:29305437-29305438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534284726	chr5:29305438-29305439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115484132	chr5:29305443-29305444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553050988	chr5:29305483-29305484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189613094	chr5:29305486-29305487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542842091	chr5:29305504-29305505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141542047	chr5:29305509-29305510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145561832	chr5:29305557-29305558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182019669	chr5:29305569-29305570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544092410	chr5:29305622-29305623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565398435	chr5:29305630-29305631	Enhancers	n/a	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29304600-29305200	Enhancers	Hela-S3	cervix
2	chr5:29305200-29305600	Weak transcription	Hela-S3	cervix
3	chr5:29305600-29308400	Enhancers	Hela-S3	cervix
4	chr5:29342600-29343400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:29367400-29367800	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:29367400-29368000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:29367400-29368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:29382600-29383200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:29382600-29383200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:29383000-29383400	Active TSS	HepG2	liver
11	chr5:29408200-29408400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:29408400-29410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:29410800-29411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:29417600-29418000	Enhancers	Fetal Brain Male	brain
15	chr5:29417600-29418000	Enhancers	Psoas Muscle	Psoas
16	chr5:29429200-29429400	ZNF genes & repeats	Pancreas	Pancrea
17	chr5:29433000-29433200	Enhancers	Aorta	Aorta

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