Variant report

Variant	nsv881432
Chromosome Location	chr5:29329716-29440958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:32)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:29425986-29425989	K562	blood:	n/a	n/a
2	ATF1	chr5:29431656-29431817	K562	blood:	n/a	n/a
3	ATF1	chr5:29425063-29425178	K562	blood:	n/a	n/a
4	BACH1	chr5:29433080-29433172	K562	blood:	n/a	n/a
5	CEBPB	chr5:29337230-29337430	HepG2	liver:	n/a	chr5:29337327-29337338 chr5:29337343-29337354
6	CEBPB	chr5:29351326-29351669	Hela-S3	cervix:	n/a	chr5:29351485-29351496
7	CEBPB	chr5:29390959-29391192	HepG2	liver:	n/a	chr5:29391028-29391039
8	CEBPB	chr5:29377734-29377818	HepG2	liver:	n/a	chr5:29377787-29377800 chr5:29377787-29377800 chr5:29377787-29377798 chr5:29377787-29377798 chr5:29377788-29377799
9	CEBPB	chr5:29433473-29433683	K562	blood:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
10	CEBPB	chr5:29387091-29387291	H1-hESC	embryonic stem cell:	n/a	chr5:29387204-29387215
11	CEBPB	chr5:29387041-29387392	A549	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
12	CEBPB	chr5:29414090-29414343	K562	blood:	n/a	n/a
13	CEBPB	chr5:29387050-29387411	IMR90	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
14	CEBPB	chr5:29386189-29386287	HepG2	liver:	n/a	chr5:29386206-29386217
15	CEBPB	chr5:29425611-29425821	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr5:29433358-29433700	HepG2	liver:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
17	CEBPB	chr5:29351314-29351662	HepG2	liver:	n/a	chr5:29351485-29351496
18	CEBPB	chr5:29391032-29391067	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr5:29337241-29337370	K562	blood:	n/a	chr5:29337327-29337338 chr5:29337343-29337354
20	CEBPB	chr5:29390980-29391087	K562	blood:	n/a	chr5:29391028-29391039
21	CEBPB	chr5:29337911-29338232	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr5:29433374-29433733	IMR90	lung:	n/a	chr5:29433543-29433554 chr5:29433541-29433552
23	CEBPB	chr5:29351316-29351665	IMR90	lung:	n/a	chr5:29351485-29351496
24	CEBPB	chr5:29351313-29351656	K562	blood:	n/a	chr5:29351485-29351496
25	CEBPB	chr5:29424882-29425230	A549	lung:	n/a	chr5:29425044-29425055
26	CEBPB	chr5:29424874-29425236	HepG2	liver:	n/a	chr5:29425044-29425055
27	CEBPB	chr5:29387081-29387400	Hela-S3	cervix:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
28	CEBPB	chr5:29351326-29351657	A549	lung:	n/a	chr5:29351485-29351496
29	CEBPB	chr5:29387025-29387424	HepG2	liver:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
30	CEBPB	chr5:29337963-29338183	HepG2	liver:	n/a	n/a
31	CEBPB	chr5:29413274-29413380	A549	lung:	n/a	chr5:29413367-29413380 chr5:29413367-29413378
32	CEBPB	chr5:29351339-29351626	H1-hESC	embryonic stem cell:	n/a	chr5:29351485-29351496
33	CEBPD	chr5:29331864-29332290	K562	blood:	n/a	n/a
34	CHD2	chr5:29382929-29383024	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr5:29432942-29433044	K562	blood:	n/a	n/a
36	CTCF	chr5:29367659-29367780	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr5:29367474-29367817	T-47D	breast:	n/a	n/a
38	CTCF	chr5:29367494-29367983	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:29368920-29369070	BE2_C	brain:	n/a	n/a
40	CTCF	chr5:29367620-29367770	GM12878	blood:	n/a	n/a
41	CTCF	chr5:29436124-29436217	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr5:29409126-29409166	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr5:29367600-29367750	K562	blood:	n/a	n/a
44	CTCF	chr5:29379653-29379708	GM13976	blood:	n/a	n/a
45	CTCF	chr5:29367568-29367836	T-47D	breast:	n/a	n/a
46	CTCF	chr5:29367620-29367770	GM12874	blood:	n/a	n/a
47	CTCF	chr5:29367600-29367750	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr5:29367587-29367852	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:29430100-29430250	AG10803	skin:	n/a	n/a
50	CTCF	chr5:29367463-29367937	MCF-7	breast:	n/a	n/a

No data

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

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

(count:32 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 490 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372526883	chr5:29342623-29342624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569306400	chr5:29342626-29342627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35095251	chr5:29342675-29342676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539383424	chr5:29342683-29342684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534044296	chr5:29342693-29342694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549311078	chr5:29342698-29342699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73748911	chr5:29342706-29342707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34143432	chr5:29342729-29342730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556475444	chr5:29342732-29342733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78441479	chr5:29342812-29342813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373250281	chr5:29342839-29342840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538794133	chr5:29342878-29342879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553695712	chr5:29342914-29342915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72745465	chr5:29342919-29342920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13178154	chr5:29342949-29342950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79235389	chr5:29342964-29342965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575613581	chr5:29342965-29342966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543039948	chr5:29343021-29343022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377439649	chr5:29343093-29343094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185243485	chr5:29343094-29343095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551090824	chr5:29343107-29343108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562812684	chr5:29343148-29343149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188116467	chr5:29343171-29343172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78726995	chr5:29343183-29343184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551910010	chr5:29343187-29343188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143343494	chr5:29343215-29343216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146093345	chr5:29343244-29343245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140056109	chr5:29343251-29343252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13158781	chr5:29343282-29343283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538213965	chr5:29343283-29343284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115230666	chr5:29343302-29343303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571526989	chr5:29343319-29343320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538562557	chr5:29343326-29343327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554086246	chr5:29343346-29343347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191692055	chr5:29343393-29343394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536479198	chr5:29343398-29343399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188524092	chr5:29355932-29355933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs62621192	chr5:29355963-29355964	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370795228	chr5:29355992-29355993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs149582832	chr5:29356008-29356009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs192728627	chr5:29356040-29356041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs147609761	chr5:29367412-29367413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368562737	chr5:29367423-29367424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7717754	chr5:29367435-29367436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187327459	chr5:29367445-29367446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7717780	chr5:29367474-29367475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs71621784	chr5:29367480-29367481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542483511	chr5:29367497-29367498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11956788	chr5:29367501-29367502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536515886	chr5:29367509-29367510	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:14 , 50 per page) page: 1

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

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