Variant report

Variant	nsv900474
Chromosome Location	chr13:69684848-69773503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69682184..69685154-chr13:69690217..69692966,2	MCF-7	breast:
2	chr13:69761351..69764047-chr13:69765452..69767697,2	K562	blood:
3	chr13:69714056..69716276-chr13:69718003..69720076,2	K562	blood:
4	chr13:69745779..69747312-chr13:69749716..69751908,2	K562	blood:
5	chr13:69745779..69747312-chr13:69749716..69751908,2	K562	blood:
6	chr13:69682184..69685154-chr13:69690217..69692966,2	MCF-7	breast:
7	chr13:69714056..69716276-chr13:69718003..69720076,2	K562	blood:
8	chr13:69745232..69748502-chr13:69749716..69752165,3	K562	blood:
9	chr13:69745232..69748502-chr13:69749716..69752165,3	K562	blood:
10	chr13:69761351..69764047-chr13:69765452..69767697,2	K562	blood:

No data

Extended variants
information (count: 1354 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572965329	chr13:69703216-69703217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190438215	chr13:69703229-69703230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540348215	chr13:69703277-69703278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182905715	chr13:69703317-69703318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558305777	chr13:69703324-69703325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561623391	chr13:69703330-69703331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146820740	chr13:69703349-69703350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528720821	chr13:69703351-69703352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188009781	chr13:69703369-69703370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377129561	chr13:69703372-69703373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552190371	chr13:69703395-69703396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565641937	chr13:69703401-69703402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529758155	chr13:69703446-69703447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532828421	chr13:69703473-69703474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569187715	chr13:69703493-69703494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538192962	chr13:69703497-69703498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111858649	chr13:69703499-69703500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555260840	chr13:69703506-69703507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568534633	chr13:69703537-69703538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192386266	chr13:69703553-69703554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76970961	chr13:69703841-69703842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375825103	chr13:69703852-69703853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187769247	chr13:69703872-69703873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369072458	chr13:69703876-69703877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544169312	chr13:69703882-69703883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545812073	chr13:69703895-69703896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556222886	chr13:69703951-69703952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143764919	chr13:69704027-69704028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551045372	chr13:69704066-69704067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148129310	chr13:69704067-69704068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569338175	chr13:69704144-69704145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562036206	chr13:69704155-69704156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141042313	chr13:69704165-69704166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540834308	chr13:69704167-69704168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11416250	chr13:69704183-69704184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397784268	chr13:69704192-69704193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398117499	chr13:69704193-69704194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373871048	chr13:69704205-69704206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78793017	chr13:69704397-69704398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116513559	chr13:69704420-69704421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552140834	chr13:69704438-69704439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150278507	chr13:69704466-69704467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192337405	chr13:69704481-69704482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548555663	chr13:69704516-69704517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139333164	chr13:69704523-69704524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534121709	chr13:69704528-69704529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117011831	chr13:69704542-69704543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553106367	chr13:69704641-69704642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570540442	chr13:69704696-69704697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578156681	chr13:69704730-69704731	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69703200-69704800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:69703400-69703800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:69703600-69704000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:69703600-69704000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:69703800-69704200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:69713200-69713600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:69740400-69740600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:69741000-69742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:69741400-69741600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:69741600-69742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:69742400-69742600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr13:69742400-69742600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:69742400-69742800	Active TSS	Hela-S3	cervix
14	chr13:69742400-69743000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:69742600-69743000	Active TSS	A549	lung
16	chr13:69742600-69770200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:69747600-69748200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:69747600-69749400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:69748200-69754200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:69748600-69749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:69748800-69749200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr13:69749400-69754200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:69749400-69754400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:69754000-69754800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:69754000-69754800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:69754200-69754400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr13:69754200-69754600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:69754400-69754600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:69754600-69754800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:69754600-69761600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:69756000-69756200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:69756200-69757800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:69757800-69758000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:69757800-69758000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr13:69761600-69762000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr13:69761600-69762200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr13:69761800-69762200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:69762000-69766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr13:69762200-69762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:69762600-69762800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:69762800-69773800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:69766400-69766800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr13:69766600-69767000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:69766800-69767200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr13:69766800-69769000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:69767000-69768200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr13:69767200-69768400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:69767600-69768200	Enhancers	A549	lung
49	chr13:69768200-69769200	Weak transcription	A549	lung
50	chr13:69768200-69773200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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