Variant report

Variant	nsv561970
Chromosome Location	chr13:65338673-65352129
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:65332252..65334567-chr13:65336967..65338789,2	K562	blood:
2	chr12:69004648..69007002-chr13:65338136..65340765,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-22	chr13:65347836-65347902	l_866_chr13:65338173-65350330_testes
2	lnc-AL445989.1-22	chr13:65349990-65350330	l_866_chr13:65338173-65350330_testes
3	lnc-AL445989.1-22	chr13:65347840-65347902	NONHSAT034192
4	lnc-AL445989.1-22	chr13:65349990-65350352	NONHSAT034192

No data

Variant related genes	Relation type
ENSG00000127314	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1407976	chr13:65338673-65338674	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114858713	chr13:65338707-65338708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548368247	chr13:65338735-65338736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568609585	chr13:65338745-65338746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191679296	chr13:65338776-65338777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550529863	chr13:65338793-65338794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572761954	chr13:65338800-65338801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9540210	chr13:65338837-65338838	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558636386	chr13:65338865-65338866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9528818	chr13:65338887-65338888	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs544363154	chr13:65338917-65338918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568681314	chr13:65338919-65338920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536125453	chr13:65338936-65338937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145260128	chr13:65338943-65338944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183961087	chr13:65338950-65338951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188906278	chr13:65338996-65338997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540487687	chr13:65339084-65339085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560210902	chr13:65339100-65339101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192450021	chr13:65339111-65339112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183694935	chr13:65339116-65339117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562586782	chr13:65339122-65339123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531692287	chr13:65339134-65339135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548305699	chr13:65339248-65339249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568625152	chr13:65339260-65339261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534142545	chr13:65339262-65339263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147198046	chr13:65339278-65339279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571057882	chr13:65339321-65339322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140468027	chr13:65339335-65339336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558576284	chr13:65339376-65339377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs9540211	chr13:65339453-65339454	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs537917134	chr13:65339459-65339460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554383901	chr13:65339462-65339463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75335825	chr13:65339463-65339464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75683888	chr13:65339466-65339467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540058535	chr13:65339497-65339498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9540212	chr13:65339526-65339527	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576719937	chr13:65339560-65339561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373652607	chr13:65339571-65339572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9540213	chr13:65339575-65339576	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs558569444	chr13:65339599-65339600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562524182	chr13:65339607-65339608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531632876	chr13:65339625-65339626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558504139	chr13:65339653-65339654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562060188	chr13:65339656-65339657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151156712	chr13:65339738-65339739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578028069	chr13:65339798-65339799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200076388	chr13:65339800-65339801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544304128	chr13:65339847-65339848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547680687	chr13:65339891-65339892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs595704	chr13:65339930-65339931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Multiple myeloma	17550852	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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65333400-65341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr13:65333600-65341000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:65333800-65340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:65340000-65341800	Enhancers	HUVEC	blood vessel
5	chr13:65340200-65340400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:65340400-65340800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:65340800-65341600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:65340800-65341800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:65341000-65341600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:65341200-65341600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:65341200-65341600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:65341200-65341600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:65341800-65343400	Weak transcription	HUVEC	blood vessel
14	chr13:65343400-65344200	Enhancers	HUVEC	blood vessel
15	chr13:65351200-65353200	Enhancers	HUVEC	blood vessel

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