Variant report

Variant	esv3426845
Chromosome Location	chr13:55163051-55167049
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	chr13:55165909..55168648-chr13:55172019..55174969,2	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550495813	chr13:55163057-55163058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560185623	chr13:55163110-55163111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538442663	chr13:55163151-55163152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371990188	chr13:55163216-55163217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2898093	chr13:55163243-55163244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs568118671	chr13:55163245-55163246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190434271	chr13:55163291-55163292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550814052	chr13:55163297-55163298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183422851	chr13:55163326-55163327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148965633	chr13:55163373-55163374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553576248	chr13:55163390-55163391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573566594	chr13:55163434-55163435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536163953	chr13:55163479-55163480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187196342	chr13:55163496-55163497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575332035	chr13:55163601-55163602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544261238	chr13:55163634-55163635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564009693	chr13:55163655-55163656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77194577	chr13:55163716-55163717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577714609	chr13:55163780-55163781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540046027	chr13:55163793-55163794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560306347	chr13:55163810-55163811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142875412	chr13:55163921-55163922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575225527	chr13:55163978-55163979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146563647	chr13:55163998-55163999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561714829	chr13:55164073-55164074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141240568	chr13:55164117-55164118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550978836	chr13:55164126-55164127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570851795	chr13:55164150-55164151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374578044	chr13:55164152-55164153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539960513	chr13:55164156-55164157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141607881	chr13:55164159-55164160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551681425	chr13:55164189-55164190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9536772	chr13:55164255-55164256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192127606	chr13:55164347-55164348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182635976	chr13:55164366-55164367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556110600	chr13:55164376-55164377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187760271	chr13:55164400-55164401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572345958	chr13:55164427-55164428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557776214	chr13:55164445-55164446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191881603	chr13:55164531-55164532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540328072	chr13:55164628-55164629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144953855	chr13:55164631-55164632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377431956	chr13:55164656-55164657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565113333	chr13:55164702-55164703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535142304	chr13:55164764-55164765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35015972	chr13:55164868-55164869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573518588	chr13:55164881-55164882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551425226	chr13:55164886-55164887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542450901	chr13:55164914-55164915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562423498	chr13:55164917-55164918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55146000-55167000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:55161000-55173200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:55161200-55166800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:55161200-55168200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:55161200-55171200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:55161200-55171400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:55164200-55164400	Enhancers	Aorta	Aorta
8	chr13:55164400-55167400	Weak transcription	Pancreas	Pancrea
9	chr13:55166800-55168000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr13:55167000-55167400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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