Variant report

Variant	nsv561971
Chromosome Location	chr13:65339453-65343969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:69004648..69007002-chr13:65338136..65340765,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127314	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9540211	chr13:65339453-65339454	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537917134	chr13:65339459-65339460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554383901	chr13:65339462-65339463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75335825	chr13:65339463-65339464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75683888	chr13:65339466-65339467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540058535	chr13:65339497-65339498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9540212	chr13:65339526-65339527	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576719937	chr13:65339560-65339561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373652607	chr13:65339571-65339572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9540213	chr13:65339575-65339576	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs558569444	chr13:65339599-65339600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562524182	chr13:65339607-65339608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531632876	chr13:65339625-65339626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558504139	chr13:65339653-65339654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562060188	chr13:65339656-65339657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151156712	chr13:65339738-65339739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578028069	chr13:65339798-65339799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200076388	chr13:65339800-65339801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544304128	chr13:65339847-65339848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547680687	chr13:65339891-65339892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs595704	chr13:65339930-65339931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187335334	chr13:65340001-65340002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550523235	chr13:65340073-65340074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557380058	chr13:65340143-65340144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568853954	chr13:65340158-65340159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117498525	chr13:65340176-65340177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149875099	chr13:65340190-65340191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191742961	chr13:65340288-65340289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533929490	chr13:65340348-65340349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145427301	chr13:65340349-65340350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141408434	chr13:65340351-65340352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545680367	chr13:65340372-65340373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs66481224	chr13:65340421-65340422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184005702	chr13:65340433-65340434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145148609	chr13:65340510-65340511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541858616	chr13:65340576-65340577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376138115	chr13:65340605-65340606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368068104	chr13:65340638-65340639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189997140	chr13:65340680-65340681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73198494	chr13:65340729-65340730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370598607	chr13:65340748-65340749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569444489	chr13:65340753-65340754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560000100	chr13:65340765-65340766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543049666	chr13:65340789-65340790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181699523	chr13:65340822-65340823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138972957	chr13:65340841-65340842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140643479	chr13:65340846-65340847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570366658	chr13:65340849-65340850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73496519	chr13:65340852-65340853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58987411	chr13:65340898-65340899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:14 , 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

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