Variant report

Variant	nsv1051582
Chromosome Location	chr13:69577425-69598747
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69588937..69591463-chr13:69592795..69594701,2	MCF-7	breast:
2	chr13:69577123..69579403-chr13:69580839..69583998,3	K562	blood:
3	chr13:69584341..69586393-chr13:69588333..69590253,2	K562	blood:
4	chr13:69577123..69579403-chr13:69580839..69583998,3	K562	blood:
5	chr13:69584341..69586393-chr13:69588333..69590253,2	K562	blood:
6	chr13:69577914..69580803-chr13:69584083..69586306,2	K562	blood:
7	chr13:69588937..69591463-chr13:69592795..69594701,2	MCF-7	breast:
8	chr13:69583714..69586393-chr13:69587871..69590253,3	K562	blood:
9	chr13:69591603..69593208-chr13:69593619..69596259,2	K562	blood:
10	chr13:52026657..52027294-chr13:69594051..69594992,2	Hela-S3	cervix:
11	chr13:69577914..69580803-chr13:69584083..69586306,2	K562	blood:
12	chr13:69591603..69593208-chr13:69593619..69596259,2	K562	blood:
13	chr13:69583714..69586393-chr13:69587871..69590253,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000102786	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77129413	chr13:69583614-69583615	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564338431	chr13:69583618-69583619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532474933	chr13:69583634-69583635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9529491	chr13:69583647-69583648	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181288810	chr13:69583706-69583707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144228514	chr13:69583728-69583729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563231716	chr13:69583729-69583730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9541712	chr13:69583739-69583740	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568438318	chr13:69583829-69583830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539605187	chr13:69583847-69583848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549034517	chr13:69583887-69583888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557921250	chr13:69583978-69583979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74728266	chr13:69584017-69584018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139571754	chr13:69584020-69584021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567276858	chr13:69584050-69584051	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556302141	chr13:69584081-69584082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576058606	chr13:69584131-69584132	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535462660	chr13:69584181-69584182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs9541713	chr13:69584182-69584183	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572228098	chr13:69584205-69584206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9541714	chr13:69584225-69584226	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376853067	chr13:69584247-69584248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577811991	chr13:69584257-69584258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545854605	chr13:69584273-69584274	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs562647769	chr13:69584303-69584304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574341715	chr13:69584320-69584321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548194631	chr13:69584321-69584322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs561781876	chr13:69584332-69584333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185664381	chr13:69584358-69584359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548109191	chr13:69584371-69584372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541782988	chr13:69584421-69584422	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570915425	chr13:69584453-69584454	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188417051	chr13:69584454-69584455	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs180780688	chr13:69584504-69584505	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569780516	chr13:69584523-69584524	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs7986300	chr13:69584564-69584565	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373261898	chr13:69584592-69584593	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142547515	chr13:69584595-69584596	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572052009	chr13:69584631-69584632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150986914	chr13:69584714-69584715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558045079	chr13:69584720-69584721	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376417160	chr13:69584765-69584766	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs577718776	chr13:69584797-69584798	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs10467603	chr13:69584803-69584804	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs556205610	chr13:69584820-69584821	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7987016	chr13:69584829-69584830	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558046080	chr13:69584868-69584869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs17084460	chr13:69584963-69584964	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570963395	chr13:69585004-69585005	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149718861	chr13:69585062-69585063	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	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
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69583600-69585800	Active TSS	K562	blood
2	chr13:69584400-69584600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:69584600-69587600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:69587600-69588400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:69587600-69590200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:69587800-69588800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:69588000-69588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:69590200-69590400	Enhancers	H9 Cell Line	embryonic stem cell

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