Variant report

Variant	nsv562140
Chromosome Location	chr13:67820503-67858550
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	ARID3A	chr13:67857713-67858283	HepG2	liver:	n/a	n/a
2	ATF2	chr13:67832600-67833093	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr13:67847366-67847439	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr13:67832570-67832820	GM12878	blood:	n/a	chr13:67832570-67832579
5	CEBPB	chr13:67832646-67833189	H1-hESC	embryonic stem cell:	n/a	chr13:67833080-67833093
6	CEBPB	chr13:67857728-67858180	HepG2	liver:	n/a	chr13:67857737-67857746
7	CEBPB	chr13:67830436-67830699	A549	lung:	n/a	n/a
8	CEBPB	chr13:67852389-67852895	IMR90	lung:	n/a	n/a
9	CEBPB	chr13:67857846-67857971	HepG2	liver:	n/a	n/a
10	CTCF	chr13:67833287-67833363	K562	blood:	n/a	n/a
11	CTCF	chr13:67828993-67829080	GM13976	blood:	n/a	n/a
12	CTCF	chr13:67833365-67833370	K562	blood:	n/a	n/a
13	CTCF	chr13:67836497-67836597	K562	blood:	n/a	n/a
14	CTCF	chr13:67833308-67833338	LNCaP	prostate:	n/a	n/a
15	CTCF	chr13:67833203-67833396	K562	blood:	n/a	n/a
16	CTCF	chr13:67834704-67834757	GM10266	blood:	n/a	n/a
17	CTCF	chr13:67833280-67833430	BE2_C	brain:	n/a	n/a
18	EP300	chr13:67852208-67852848	SK-N-SH	brain:	n/a	n/a
19	EP300	chr13:67852297-67852724	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr13:67857855-67857967	Hela-S3	cervix:	n/a	n/a
21	EP300	chr13:67857655-67858251	HepG2	liver:	n/a	chr13:67858023-67858037 chr13:67857792-67857806
22	EP300	chr13:67857731-67858296	HepG2	liver:	n/a	chr13:67858023-67858037 chr13:67857792-67857806
23	EP300	chr13:67852407-67852717	SK-N-SH_RA	brain:	n/a	n/a
24	FAM48A	chr13:67826045-67826155	GM12878	blood:	n/a	n/a
25	FAM48A	chr13:67824868-67824978	GM12878	blood:	n/a	n/a
26	FOS	chr13:67847140-67847479	MCF10A-Er-Src	breast:	n/a	chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290
27	FOS	chr13:67857731-67858022	MCF10A-Er-Src	breast:	n/a	chr13:67857848-67857860 chr13:67857850-67857858
28	FOS	chr13:67857735-67858022	MCF10A-Er-Src	breast:	n/a	chr13:67857848-67857860 chr13:67857850-67857858
29	FOS	chr13:67857725-67857968	MCF10A-Er-Src	breast:	n/a	chr13:67857848-67857860 chr13:67857850-67857858
30	FOS	chr13:67852459-67852650	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr13:67847156-67847511	MCF10A-Er-Src	breast:	n/a	chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290
32	FOS	chr13:67852450-67852603	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr13:67847125-67847462	MCF10A-Er-Src	breast:	n/a	chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290
34	FOS	chr13:67857757-67857925	MCF10A-Er-Src	breast:	n/a	chr13:67857848-67857860 chr13:67857850-67857858
35	FOS	chr13:67847177-67847462	MCF10A-Er-Src	breast:	n/a	chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290 chr13:67847280-67847290
36	FOS	chr13:67856024-67856142	MCF10A-Er-Src	breast:	n/a	chr13:67856102-67856111 chr13:67856101-67856112
37	FOS	chr13:67851924-67851936	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL1	chr13:67857670-67858145	HCT-116	colon:	n/a	chr13:67857848-67857860 chr13:67857850-67857858
39	FOSL2	chr13:67857744-67858083	HepG2	liver:	n/a	chr13:67857848-67857860 chr13:67857849-67857860 chr13:67857850-67857858
40	FOSL2	chr13:67857676-67858103	HepG2	liver:	n/a	chr13:67857848-67857860 chr13:67857849-67857860 chr13:67857850-67857858
41	FOXA1	chr13:67857744-67858202	HepG2	liver:	n/a	n/a
42	FOXA1	chr13:67857738-67858165	HepG2	liver:	n/a	n/a
43	FOXA1	chr13:67857717-67858277	HepG2	liver:	n/a	n/a
44	FOXA1	chr13:67857718-67858202	HepG2	liver:	n/a	n/a
45	FOXA2	chr13:67857718-67858121	HepG2	liver:	n/a	n/a
46	GATA2	chr13:67849494-67849843	SH-SY5Y	brain:	n/a	chr13:67849668-67849675 chr13:67849668-67849678 chr13:67849782-67849792 chr13:67849665-67849677 chr13:67849666-67849676 chr13:67849781-67849793 chr13:67849664-67849671 chr13:67849666-67849675 chr13:67849783-67849792 chr13:67849783-67849790
47	GATA3	chr13:67849534-67849815	SH-SY5Y	brain:	n/a	chr13:67849668-67849675 chr13:67849668-67849678 chr13:67849782-67849792 chr13:67849665-67849677 chr13:67849666-67849676 chr13:67849781-67849793 chr13:67849664-67849671 chr13:67849666-67849675 chr13:67849783-67849792 chr13:67849783-67849790
48	GATA3	chr13:67845649-67845808	SH-SY5Y	brain:	n/a	chr13:67845763-67845779 chr13:67845759-67845769 chr13:67845767-67845776
49	GATA3	chr13:67852230-67852794	SK-N-SH	brain:	n/a	chr13:67852349-67852356 chr13:67852342-67852363 chr13:67852344-67852360 chr13:67852349-67852356 chr13:67852578-67852588 chr13:67852349-67852356 chr13:67852347-67852356
50	HNF4A	chr13:67857769-67858031	HepG2	liver:	n/a	chr13:67857951-67857966 chr13:67857957-67857965 chr13:67857950-67857965

No.	Distal block	Cell Line	Cell type
1	chr13:67844700..67846615-chr13:67859322..67861875,2	K562	blood:
2	chr13:67831297..67833273-chr13:67834437..67837217,2	MCF-7	breast:
3	chr13:67839825..67842452-chr13:67857701..67859414,2	MCF-7	breast:
4	chr13:67831297..67833273-chr13:67834437..67837217,2	MCF-7	breast:

Variant related genes	Relation type
RPSAP53	TF binding region
ENSG00000214263	chromatin interactions

Extended variants
information (count: 924 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:924 , 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	rs190940814	chr13:67821245-67821246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565728201	chr13:67821280-67821281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528178279	chr13:67821325-67821326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146142390	chr13:67821349-67821350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182583210	chr13:67821355-67821356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111302596	chr13:67821443-67821444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529592614	chr13:67821447-67821448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114867730	chr13:67821477-67821478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567885158	chr13:67821496-67821497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186709647	chr13:67821501-67821502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191662103	chr13:67821511-67821512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1325675	chr13:67821513-67821514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564652194	chr13:67821518-67821519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538741735	chr13:67821567-67821568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531901843	chr13:67821569-67821570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78692845	chr13:67821603-67821604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575214633	chr13:67821619-67821620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9541039	chr13:67821662-67821663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146660073	chr13:67821698-67821699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573862408	chr13:67821700-67821701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542760757	chr13:67821734-67821735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148834078	chr13:67821760-67821761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528330871	chr13:67821761-67821762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12869920	chr13:67821763-67821764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12871025	chr13:67821764-67821765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183438684	chr13:67821803-67821804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565000244	chr13:67821831-67821832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142560217	chr13:67821920-67821921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548346337	chr13:67821928-67821929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550608880	chr13:67821964-67821965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552499318	chr13:67823236-67823237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569100269	chr13:67823239-67823240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368185349	chr13:67823247-67823248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111502397	chr13:67823328-67823329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193022501	chr13:67823339-67823340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548369985	chr13:67823379-67823380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373766508	chr13:67825485-67825486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377622649	chr13:67825489-67825490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200012953	chr13:67825504-67825505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557866850	chr13:67825565-67825566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576425899	chr13:67825610-67825611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190042939	chr13:67825628-67825629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138985452	chr13:67825653-67825654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542500352	chr13:67825680-67825681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562278253	chr13:67825716-67825717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149881421	chr13:67825730-67825731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78145284	chr13:67825742-67825743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73511438	chr13:67825774-67825775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533468825	chr13:67825804-67825805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182674129	chr13:67825812-67825813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67821200-67822000	Enhancers	Fetal Intestine Small	intestine
2	chr13:67821400-67821800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:67823200-67823400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:67825400-67833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:67828000-67828200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:67828200-67832600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:67830400-67830600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:67830800-67832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:67831800-67833800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:67831800-67834000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:67831800-67834400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:67832000-67832400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:67832000-67833000	Enhancers	HSMM	muscle
14	chr13:67832000-67833800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:67832000-67834400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:67832200-67833600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:67832400-67832800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:67832600-67833400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr13:67832600-67834400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:67832600-67834600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:67832800-67833000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:67833000-67833200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr13:67833200-67833800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:67833600-67834000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr13:67834600-67836400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:67836400-67836600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:67836400-67836600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr13:67846400-67847800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:67846400-67848400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr13:67846600-67848200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:67846800-67847400	Enhancers	HSMM	muscle
32	chr13:67846800-67848200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr13:67847000-67848400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:67847200-67848000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr13:67847400-67848400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr13:67847400-67850200	Weak transcription	HSMM	muscle
37	chr13:67847600-67848000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr13:67847800-67848200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:67847800-67848200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:67847800-67848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:67847800-67848400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr13:67847800-67851600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:67848000-67848200	Enhancers	Fetal Thymus	thymus
44	chr13:67848000-67848400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:67848000-67848400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:67848200-67851600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:67848400-67849400	Weak transcription	Fetal Thymus	thymus
48	chr13:67849400-67850600	Enhancers	Primary hematopoietic stem cells	blood
49	chr13:67849400-67851000	Enhancers	Fetal Thymus	thymus
50	chr13:67849600-67850000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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