Variant report

Variant	nsv881710
Chromosome Location	chr5:59311463-59437874
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	BACH1	chr5:59399013-59399040	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:59362452-59362532	H1-hESC	embryonic stem cell:	n/a	chr5:59362517-59362531
3	BATF	chr5:59315392-59315693	GM12878	blood:	n/a	n/a
4	BATF	chr5:59314853-59315076	GM12878	blood:	n/a	n/a
5	BATF	chr5:59314782-59315054	GM12878	blood:	n/a	n/a
6	BATF	chr5:59436998-59437209	GM12878	blood:	n/a	chr5:59437117-59437130
7	CEBPB	chr5:59420104-59420397	HepG2	liver:	n/a	chr5:59420213-59420224
8	CEBPB	chr5:59323201-59323377	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:59436974-59437252	Hela-S3	cervix:	n/a	chr5:59437168-59437179
10	CEBPB	chr5:59324251-59324399	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr5:59435622-59435849	IMR90	lung:	n/a	chr5:59435662-59435673
12	CEBPB	chr5:59323093-59323416	A549	lung:	n/a	n/a
13	CEBPB	chr5:59388352-59389084	A549	lung:	n/a	n/a
14	CEBPB	chr5:59388527-59388947	A549	lung:	n/a	n/a
15	CEBPB	chr5:59425534-59425851	HepG2	liver:	n/a	chr5:59425679-59425692 chr5:59425679-59425690 chr5:59425680-59425691 chr5:59425679-59425692
16	CEBPB	chr5:59388097-59388997	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr5:59396472-59396659	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:59425545-59425825	A549	lung:	n/a	chr5:59425679-59425692 chr5:59425679-59425690 chr5:59425680-59425691 chr5:59425679-59425692
19	CEBPB	chr5:59420093-59420358	A549	lung:	n/a	chr5:59420213-59420224
20	CEBPB	chr5:59425519-59425791	IMR90	lung:	n/a	chr5:59425679-59425692 chr5:59425679-59425690 chr5:59425680-59425691 chr5:59425679-59425692
21	CEBPB	chr5:59321960-59322375	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr5:59425556-59425787	Hela-S3	cervix:	n/a	chr5:59425679-59425692 chr5:59425679-59425690 chr5:59425680-59425691 chr5:59425679-59425692
23	CHD2	chr5:59388479-59388908	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr5:59437003-59437304	GM12878	blood:	n/a	chr5:59437117-59437130
25	CTCF	chr5:59414520-59414670	Caco-2	colon:	n/a	n/a
26	CTCF	chr5:59338310-59338339	K562	blood:	n/a	n/a
27	CTCF	chr5:59363480-59363630	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:59338240-59338390	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr5:59328700-59328850	HCM	heart:	n/a	n/a
30	CTCF	chr5:59363460-59363610	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:59419145-59419179	Lung_OC	lung:	n/a	n/a
32	CTCF	chr5:59375962-59376011	GM13977	blood:	n/a	n/a
33	CTCF	chr5:59399009-59399082	GM13976	blood:	n/a	n/a
34	CTCF	chr5:59364488-59364550	Fibrobl	skin:	n/a	n/a
35	CTCF	chr5:59363480-59363630	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr5:59363460-59363610	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr5:59363521-59363569	Gliobla	brain:	n/a	n/a
38	CTCF	chr5:59370430-59370499	GM20000	blood:	n/a	n/a
39	CTCF	chr5:59338260-59338410	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr5:59372431-59372471	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr5:59339363-59339428	GM10248	blood:	n/a	n/a
42	CTCF	chr5:59316481-59316509	GM13976	blood:	n/a	n/a
43	CTCF	chr5:59363580-59363730	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr5:59363477-59363659	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:59387510-59387584	GM20000	blood:	n/a	n/a
46	CTCF	chr5:59387585-59387600	GM20000	blood:	n/a	n/a
47	E2F4	chr5:59388592-59388727	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr5:59354134-59354458	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr5:59362199-59362841	SK-N-SH	brain:	n/a	chr5:59362520-59362529 chr5:59362519-59362528
50	EP300	chr5:59362386-59362802	Hela-S3	cervix:	n/a	chr5:59362520-59362529 chr5:59362519-59362528

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:136403150..136403677-chr5:59327450..59328024,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC109486.1-2	chr5:59328604-59328847	ENSG00000248935.1
2	lnc-AC109486.1-2	chr5:59326713-59326807	ENSG00000248935.1
3	lnc-AC109486.1-2	chr5:59318370-59318546	ENSG00000248935.1
4	lnc-AC109486.1-2	chr5:59317593-59317673	ENSG00000248935.1
5	lnc-AC109486.1-2	chr5:59326675-59326799	ENSG00000248935.1
6	lnc-AC109486.1-2	chr5:59317076-59317157	ENSG00000248935.1

Variant related genes	Relation type
ENSG00000248935	TF binding region

Extended variants
information (count: 3609 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3609 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1876671	chr5:59311463-59311464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185947080	chr5:59311473-59311474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191285957	chr5:59311475-59311476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544811815	chr5:59311497-59311498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564819275	chr5:59311503-59311504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34840727	chr5:59311546-59311547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72753256	chr5:59311553-59311554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547279257	chr5:59311566-59311567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559319086	chr5:59311609-59311610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537767958	chr5:59311618-59311619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181413530	chr5:59311651-59311652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73098731	chr5:59311654-59311655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569922830	chr5:59311727-59311728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76656122	chr5:59311733-59311734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139728370	chr5:59311777-59311778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185997730	chr5:59311778-59311779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550364172	chr5:59311814-59311815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190967133	chr5:59311815-59311816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557990158	chr5:59311839-59311840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553748460	chr5:59311852-59311853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113434356	chr5:59311853-59311854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183341725	chr5:59311854-59311855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552964362	chr5:59311856-59311857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573217887	chr5:59311858-59311859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561745323	chr5:59311863-59311864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs70975359	chr5:59311879-59311880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201392582	chr5:59311880-59311881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573939451	chr5:59311905-59311906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187728616	chr5:59311928-59311929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144290758	chr5:59311965-59311966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369064055	chr5:59311970-59311971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575647784	chr5:59311975-59311976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544673267	chr5:59311987-59311988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138528503	chr5:59312011-59312012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114656330	chr5:59312085-59312086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578183128	chr5:59312121-59312122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375983032	chr5:59312129-59312130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11739695	chr5:59312136-59312137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs377255546	chr5:59312147-59312148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146100217	chr5:59312180-59312181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563314641	chr5:59312202-59312203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114203078	chr5:59312222-59312223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191056163	chr5:59312265-59312266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560607214	chr5:59312273-59312274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528129962	chr5:59312289-59312290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547871851	chr5:59312352-59312353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182940968	chr5:59312382-59312383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530530385	chr5:59312483-59312484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575081739	chr5:59312501-59312502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373259439	chr5:59312525-59312526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	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
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59307200-59311600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr5:59311600-59316400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:59315000-59316000	Enhancers	GM12878-XiMat	blood
4	chr5:59316400-59318400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:59316400-59322400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:59316600-59317400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:59316600-59317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:59317200-59317600	Enhancers	Aorta	Aorta
9	chr5:59317200-59318800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:59317400-59318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:59317600-59330000	Weak transcription	Aorta	Aorta
12	chr5:59318400-59318600	Enhancers	NH-A	brain
13	chr5:59318400-59318800	Enhancers	Brain Germinal Matrix	brain
14	chr5:59318400-59318800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:59318400-59319000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:59318400-59319000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:59318600-59319000	Flanking Active TSS	NH-A	brain
18	chr5:59318600-59319800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:59318800-59319400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:59319000-59320200	Enhancers	NH-A	brain
21	chr5:59319400-59320200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:59319800-59322000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:59320200-59320800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:59320200-59322000	Weak transcription	NH-A	brain
25	chr5:59320800-59329600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:59321800-59322600	Enhancers	A549	lung
27	chr5:59321800-59322600	Enhancers	Hela-S3	cervix
28	chr5:59322000-59322400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:59322000-59322600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:59322000-59322600	Enhancers	NH-A	brain
31	chr5:59323200-59325800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:59323800-59325000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:59325000-59328800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:59326800-59328400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:59326800-59329000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:59326800-59330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:59327000-59327400	Enhancers	Brain Germinal Matrix	brain
38	chr5:59327000-59330000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:59327200-59327600	Enhancers	Fetal Brain Male	brain
40	chr5:59327400-59327600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:59327400-59327800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:59327600-59327800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:59327800-59328200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:59328000-59328200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:59328000-59329200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:59328000-59329200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:59328200-59328400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:59328400-59329000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:59328400-59329600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:59328400-59330000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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