Variant report

Variant	esv3379625
Chromosome Location	chr13:85494051-85498149
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	chr13:85491602..85495231-chr13:86366745..86369827,3	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534729150	chr13:85494065-85494066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578000420	chr13:85494066-85494067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7321972	chr13:85494085-85494086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563801350	chr13:85494091-85494092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377732506	chr13:85494092-85494093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201261605	chr13:85494218-85494219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575116683	chr13:85494234-85494235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531042519	chr13:85494235-85494236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7322312	chr13:85494236-85494237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561062833	chr13:85494241-85494242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528365913	chr13:85494251-85494252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561471205	chr13:85494272-85494273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546325847	chr13:85494334-85494335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528741246	chr13:85494344-85494345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547314065	chr13:85494403-85494404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373747236	chr13:85494406-85494407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116399923	chr13:85494434-85494435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551049461	chr13:85494449-85494450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569374145	chr13:85494473-85494474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377120053	chr13:85494486-85494487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548718604	chr13:85494525-85494526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567130944	chr13:85494533-85494534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9575679	chr13:85494540-85494541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145810686	chr13:85494557-85494558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557525827	chr13:85494609-85494610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141648140	chr13:85494610-85494611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550701391	chr13:85494659-85494660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7329028	chr13:85494811-85494812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72632130	chr13:85494845-85494846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145404422	chr13:85494922-85494923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147673611	chr13:85494967-85494968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573432392	chr13:85495013-85495014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540551434	chr13:85495018-85495019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565608539	chr13:85495019-85495020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532712082	chr13:85495075-85495076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142360965	chr13:85495089-85495090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562945693	chr13:85495096-85495097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530480040	chr13:85495128-85495129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548708114	chr13:85495151-85495152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9602588	chr13:85495175-85495176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143231313	chr13:85495189-85495190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546562906	chr13:85495212-85495213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549531657	chr13:85495213-85495214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571490742	chr13:85495253-85495254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11838594	chr13:85495328-85495329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567909384	chr13:85495341-85495342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182918394	chr13:85495368-85495369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572875457	chr13:85495371-85495372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535314873	chr13:85495403-85495404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553350405	chr13:85495416-85495417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85492800-85497400	Weak transcription	Fetal Lung	lung
2	chr13:85493000-85497600	Weak transcription	Fetal Kidney	kidney
3	chr13:85496600-85497000	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr13:85496600-85497000	Active TSS	HSMM	muscle
5	chr13:85497400-85498400	Enhancers	Fetal Lung	lung
6	chr13:85497600-85498600	Enhancers	Fetal Kidney	kidney

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