Variant report

Variant	esv3451236
Chromosome Location	chr13:89332000-89354986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 403 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531184104	chr13:89344419-89344420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546348931	chr13:89344428-89344429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12869296	chr13:89344476-89344477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142195627	chr13:89344482-89344483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532015869	chr13:89344493-89344494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543467492	chr13:89344512-89344513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76116373	chr13:89344557-89344558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72640095	chr13:89344565-89344566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184581187	chr13:89344576-89344577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12868884	chr13:89344579-89344580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12873335	chr13:89344580-89344581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565724111	chr13:89344587-89344588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75916271	chr13:89344597-89344598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551521917	chr13:89344610-89344611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569888580	chr13:89344617-89344618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144836225	chr13:89344674-89344675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78405336	chr13:89344679-89344680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556185302	chr13:89344695-89344696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148576051	chr13:89344714-89344715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187410515	chr13:89344737-89344738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117427490	chr13:89344750-89344751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192939335	chr13:89344763-89344764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546114047	chr13:89344778-89344779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373273294	chr13:89344789-89344790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374532097	chr13:89344824-89344825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558308692	chr13:89344836-89344837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79287874	chr13:89344846-89344847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544115001	chr13:89344901-89344902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541926962	chr13:89344951-89344952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561656461	chr13:89344952-89344953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184904902	chr13:89344992-89344993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528895937	chr13:89345020-89345021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541002047	chr13:89345038-89345039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559200233	chr13:89345060-89345061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189752843	chr13:89345119-89345120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551317013	chr13:89345142-89345143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77709688	chr13:89345147-89345148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199827274	chr13:89345150-89345151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530753916	chr13:89345177-89345178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72640097	chr13:89345213-89345214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371111618	chr13:89345240-89345241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567177285	chr13:89345258-89345259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201176026	chr13:89345313-89345314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75266237	chr13:89345314-89345315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554121059	chr13:89345319-89345320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566069245	chr13:89345320-89345321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539916570	chr13:89345335-89345336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72640098	chr13:89345349-89345350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576717318	chr13:89345437-89345438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537593056	chr13:89345450-89345451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89344400-89344600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:89344600-89345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:89345800-89346400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:89346200-89346600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:89346400-89351200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:89351200-89351400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:89351400-89357000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:89353400-89353800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:89353800-89354200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:89353800-89354200	Enhancers	Hela-S3	cervix
11	chr13:89354200-89354400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:89354200-89355600	Weak transcription	Hela-S3	cervix
13	chr13:89354400-89356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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