Variant report

Variant	nsv900480
Chromosome Location	chr13:69891861-70027794
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	chr13:69905419-69905764	K562	blood:	n/a	n/a
2	ATF3	chr13:69905415-69905687	K562	blood:	n/a	n/a
3	BCL3	chr13:69893435-69893648	GM12878	blood:	n/a	n/a
4	BRCA1	chr13:69975267-69975337	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr13:70004003-70004125	HepG2	liver:	n/a	chr13:70004036-70004047
6	CEBPB	chr13:70005567-70005819	HepG2	liver:	n/a	chr13:70005710-70005723 chr13:70005711-70005722 chr13:70005710-70005723 chr13:70005712-70005721 chr13:70005710-70005721 chr13:70005712-70005721 chr13:70005712-70005721 chr13:70005710-70005721 chr13:70005712-70005721 chr13:70005710-70005723
7	CEBPB	chr13:69964106-69964306	HepG2	liver:	n/a	chr13:69964268-69964281 chr13:69964268-69964281 chr13:69964267-69964284
8	CEBPB	chr13:70005498-70005858	Hela-S3	cervix:	n/a	chr13:70005710-70005723 chr13:70005711-70005722 chr13:70005710-70005723 chr13:70005712-70005721 chr13:70005710-70005721 chr13:70005712-70005721 chr13:70005712-70005721 chr13:70005710-70005721 chr13:70005712-70005721 chr13:70005710-70005723
9	CEBPB	chr13:70016002-70016198	HepG2	liver:	n/a	chr13:70016039-70016050
10	CEBPB	chr13:70010369-70010491	A549	lung:	n/a	n/a
11	CEBPB	chr13:69963028-69963294	HepG2	liver:	n/a	n/a
12	CEBPB	chr13:69938542-69938717	HepG2	liver:	n/a	n/a
13	CEBPB	chr13:70010261-70010563	IMR90	lung:	n/a	n/a
14	CREB1	chr13:69898271-69898487	GM12878	blood:	n/a	n/a
15	CTCF	chr13:69898318-69898651	MCF-7	breast:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
16	CTCF	chr13:69898340-69898490	SK-N-SH_RA	brain:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
17	CTCF	chr13:69898334-69898541	Hela-S3	cervix:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
18	CTCF	chr13:69898331-69898513	A549	lung:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
19	CTCF	chr13:70000272-70000345	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr13:69898280-69898430	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr13:69898280-69898430	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr13:69898420-69898570	HEEpiC	esophagus:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
23	CTCF	chr13:69898320-69898470	BE2_C	brain:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
24	CTCF	chr13:69898315-69898523	SK-N-SH_RA	brain:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
25	CTCF	chr13:69898345-69898458	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr13:69898246-69898591	A549	lung:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
27	CTCF	chr13:69898334-69898508	HepG2	liver:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
28	CTCF	chr13:69934284-69934316	GM10266	blood:	n/a	n/a
29	CTCF	chr13:69898460-69898610	RPTEC	kidney:	n/a	n/a
30	CTCF	chr13:69898360-69898510	HMEC	breast:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
31	CTCF	chr13:69898357-69898536	Spleen_OC	spleen:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
32	CTCF	chr13:69898340-69898490	HCPEpiC	choroid plexus:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
33	CTCF	chr13:69898260-69898410	HAc	cerebellar:	n/a	n/a
34	CTCF	chr13:69898130-69898763	A549	lung:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
35	CTCF	chr13:69898379-69898460	GM10266	blood:	n/a	chr13:69898439-69898460
36	CTCF	chr13:69898308-69898543	ECC-1	luminal epithelium:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
37	CTCF	chr13:69898408-69898450	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:69898400-69898550	HEEpiC	esophagus:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
39	CTCF	chr13:69898330-69898511	A549	lung:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
40	CTCF	chr13:69898360-69898510	HRPEpiC	eye:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
41	CTCF	chr13:69898320-69898470	HA-sp	spinal cord:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
42	CTCF	chr13:69898340-69898490	HRPEpiC	eye:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
43	CTCF	chr13:69898340-69898490	Caco-2	colon:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
44	CTCF	chr13:69898251-69898512	H1-hESC	embryonic stem cell:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
45	CTCF	chr13:69898360-69898510	GM12865	blood:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
46	CTCF	chr13:69898349-69898490	LNCaP	prostate:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
47	CTCF	chr13:69891840-69891990	HAc	cerebellar:	n/a	n/a
48	CTCF	chr13:69898320-69898470	RPTEC	kidney:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
49	CTCF	chr13:69898271-69898642	GM12878	blood:	n/a	chr13:69898444-69898462 chr13:69898439-69898460
50	CTCF	chr13:69999932-69999948	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:69911537..69913957-chr13:69917587..69919398,3	K562	blood:
2	chr13:69907576..69909388-chr13:69911366..69913093,2	K562	blood:
3	chr13:69995226..69997533-chr13:69999896..70002853,3	K562	blood:
4	chr13:69911537..69914002-chr13:69917682..69920298,2	K562	blood:
5	chr13:69995226..69997533-chr13:69999896..70002853,3	K562	blood:
6	chr13:69907576..69909388-chr13:69911366..69913093,2	K562	blood:
7	chr13:69911537..69914002-chr13:69917682..69920298,2	K562	blood:
8	chr13:69880056..69883403-chr13:69894393..69896223,3	K562	blood:
9	chr1:144532181..144534308-chr13:69998707..70000227,2	K562	blood:
10	chr13:69911537..69913957-chr13:69917587..69919398,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-24	chr13:69968333-69968468	NONHSAT034245
2	lnc-BORA-24	chr13:69980276-69980417	NONHSAT034245
3	lnc-BORA-5	chr13:69895476-69896233	NONHSAT034243
4	lnc-BORA-5	chr13:69895477-69896233	XLOC_010421

Variant related genes	Relation type
SRSF1P1	TF binding region
ENSG00000201699	chromatin interactions

Extended variants
information (count: 731 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530078149	chr13:69895495-69895496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546994236	chr13:69895529-69895530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs7983464	chr13:69895553-69895554	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531319984	chr13:69895600-69895601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs189546422	chr13:69895622-69895623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs146737774	chr13:69895702-69895703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs569091904	chr13:69895706-69895707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560077300	chr13:69895718-69895719	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs549818099	chr13:69895740-69895741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs537575900	chr13:69895741-69895742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs548236714	chr13:69895782-69895783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555754923	chr13:69895803-69895804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs561604074	chr13:69895904-69895905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567975995	chr13:69895918-69895919	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs117621411	chr13:69896004-69896005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs181001689	chr13:69896013-69896014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs35100392	chr13:69896057-69896058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs35452080	chr13:69896090-69896091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs547406617	chr13:69896143-69896144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs577113174	chr13:69896181-69896182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs185884420	chr13:69896203-69896204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562798630	chr13:69897230-69897231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531790723	chr13:69897239-69897240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534324684	chr13:69897255-69897256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562132492	chr13:69897263-69897264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35043067	chr13:69897290-69897291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147521609	chr13:69897297-69897298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552947647	chr13:69897431-69897432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138272191	chr13:69897455-69897456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551427837	chr13:69897499-69897500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190547257	chr13:69897503-69897504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550109798	chr13:69897510-69897511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569921428	chr13:69897517-69897518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182858682	chr13:69897525-69897526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142237815	chr13:69897605-69897606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10507764	chr13:69897669-69897670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565723162	chr13:69897689-69897690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534320370	chr13:69897712-69897713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553812763	chr13:69897730-69897731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545260752	chr13:69897743-69897744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372732246	chr13:69897779-69897780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534245649	chr13:69918806-69918807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554407290	chr13:69918823-69918824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113558773	chr13:69918856-69918857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2782463	chr13:69918875-69918876	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147200321	chr13:69918877-69918878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536059648	chr13:69918878-69918879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556773374	chr13:69918946-69918947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76116657	chr13:69918952-69918953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73512026	chr13:69918955-69918956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69897200-69897800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:69918800-69919000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:69918800-69919000	ZNF genes & repeats	Esophagus	oesophagus
4	chr13:69923200-69923600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:69923600-69924600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:69923600-69924800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:69924800-69925600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:69925600-69925800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:69929000-69929600	Enhancers	Brain Germinal Matrix	brain
10	chr13:69935800-69936200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:69945400-69945800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:69945400-69945800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:69978400-69978600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:69979000-69979600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:69991400-69993000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:69991400-69993200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:69991600-69991800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:69991600-69992000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr13:69991600-69992200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:69991600-69993000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:69991600-69993000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:69991600-69993000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr13:69991600-69993000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr13:69991800-69993800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:69992200-69992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:69992600-69993200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:69993400-69993800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:69993800-69994200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:69994000-69994200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:69994000-69995400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:69994000-69995400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:69994200-69997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:69995400-69998000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:69997400-69998400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:69997600-69998400	Enhancers	Adipose Nuclei	Adipose
36	chr13:69998000-69998200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:69998000-69998400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr13:70019000-70019600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:70024200-70024800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:70024400-70024800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:70024400-70024800	Enhancers	Brain Germinal Matrix	brain
42	chr13:70024800-70032000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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