Variant report

Variant	nsv974213
Chromosome Location	chr13:69877439-69889811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:69880880-69881030	RPTEC	kidney:	n/a	n/a
2	CTCF	chr13:69880963-69881255	GM12878	blood:	n/a	n/a
3	CTCF	chr13:69881000-69881150	Caco-2	colon:	n/a	n/a
4	CTCF	chr13:69881060-69881210	MCF-7	breast:	n/a	n/a
5	CTCF	chr13:69881050-69881209	LNCaP	prostate:	n/a	n/a
6	CTCF	chr13:69881076-69881157	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr13:69881040-69881190	HMEC	breast:	n/a	n/a
8	CTCF	chr13:69881047-69881140	MCF-7	breast:	n/a	n/a
9	CTCF	chr13:69881120-69881270	RPTEC	kidney:	n/a	n/a
10	CTCF	chr13:69881020-69881170	BE2_C	brain:	n/a	n/a
11	CTCF	chr13:69881060-69881210	BE2_C	brain:	n/a	n/a
12	CTCF	chr13:69881029-69881174	Medullo	brain:	n/a	n/a
13	CTCF	chr13:69881034-69881175	LNCaP	prostate:	n/a	n/a
14	E2F4	chr13:69883041-69883351	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr13:69880852-69881019	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr13:69880966-69881122	T-47D	breast:	n/a	n/a
17	FOXA1	chr13:69880863-69881145	T-47D	breast:	n/a	n/a
18	MAFF	chr13:69889183-69889487	HepG2	liver:	n/a	n/a
19	MAFF	chr13:69889315-69889373	K562	blood:	n/a	n/a
20	MAFK	chr13:69889171-69889496	HepG2	liver:	n/a	n/a
21	MAFK	chr13:69889205-69889474	HepG2	liver:	n/a	n/a
22	MAFK	chr13:69889252-69889443	IMR90	lung:	n/a	n/a
23	MAZ	chr13:69882716-69882719	HepG2	liver:	n/a	n/a
24	POLR2A	chr13:69880878-69881252	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr13:69889049-69889053	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr13:69880357-69880557	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr13:69880847-69881203	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr13:69880970-69881274	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr13:69880942-69881269	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr13:69880979-69881193	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr13:69880918-69881286	SK-N-SH	brain:	n/a	n/a
32	RAD21	chr13:69880987-69881199	SK-N-SH_RA	brain:	n/a	n/a
33	RAD21	chr13:69880960-69881251	MCF-7	breast:	n/a	n/a
34	RAD21	chr13:69880942-69881272	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr13:69880962-69881234	MCF-7	breast:	n/a	n/a
36	RAD21	chr13:69880975-69881232	SK-N-SH_RA	brain:	n/a	n/a
37	RFX5	chr13:69886247-69886264	K562	blood:	n/a	n/a
38	SMC3	chr13:69884701-69884708	Hela-S3	cervix:	n/a	n/a
39	SMC3	chr13:69880978-69881171	Hela-S3	cervix:	n/a	n/a
40	STAT3	chr13:69885160-69885360	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr13:69881495-69881543	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69882987..69885137-chr13:69885887..69888011,2	K562	blood:
2	chr13:69880056..69883403-chr13:69894393..69896223,3	K562	blood:
3	chr13:69795398..69798188-chr13:69884200..69887047,2	K562	blood:
4	chr13:69882987..69885137-chr13:69885887..69888011,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-5	chr13:69885464-69885528	NONHSAT034243
2	lnc-BORA-5	chr13:69885465-69885528	XLOC_010421

No data

Variant related genes	Relation type
LINC00401	TF binding region
ENSG00000237534	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35610212	chr13:69880853-69880854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186914969	chr13:69880874-69880875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538620636	chr13:69880935-69880936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548455731	chr13:69880944-69880945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2593490	chr13:69880976-69880977	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191451781	chr13:69881100-69881101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553464420	chr13:69881115-69881116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2593489	chr13:69881152-69881153	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539424517	chr13:69881174-69881175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183366090	chr13:69881216-69881217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575983216	chr13:69881255-69881256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572292752	chr13:69881518-69881519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs187800350	chr13:69881534-69881535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532201326	chr13:69881537-69881538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141887447	chr13:69883075-69883076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576079283	chr13:69883160-69883161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs113673604	chr13:69883166-69883167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs117966837	chr13:69883189-69883190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs17084941	chr13:69883214-69883215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115581426	chr13:69883234-69883235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542809801	chr13:69883288-69883289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs77849741	chr13:69883292-69883293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368297991	chr13:69884200-69884201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147947996	chr13:69884382-69884383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6650425	chr13:69884468-69884469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563906793	chr13:69884533-69884534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139052123	chr13:69884534-69884535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549119700	chr13:69884603-69884604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376818775	chr13:69884605-69884606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559454482	chr13:69884655-69884656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188742011	chr13:69884667-69884668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1249775	chr13:69884690-69884691	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376790294	chr13:69884708-69884709	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571150681	chr13:69884738-69884739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9599450	chr13:69884784-69884785	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112869415	chr13:69884801-69884802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1249774	chr13:69884851-69884852	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555458762	chr13:69884930-69884931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75395148	chr13:69885056-69885057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565797038	chr13:69885069-69885070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35753796	chr13:69885088-69885089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56849743	chr13:69885089-69885090	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs143794719	chr13:69885091-69885092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201985079	chr13:69885100-69885101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397771241	chr13:69885101-69885102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117723880	chr13:69885102-69885103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558180018	chr13:69885150-69885151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535205619	chr13:69885168-69885169	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192808715	chr13:69885169-69885170	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369286611	chr13:69885176-69885177	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	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
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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