Variant report

Variant	esv2158567
Chromosome Location	chr13:51173414-51173820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556918516	chr13:51173423-51173424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78609478	chr13:51173452-51173453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114600381	chr13:51173483-51173484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569633438	chr13:51173490-51173491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536922446	chr13:51173492-51173493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138849213	chr13:51173508-51173509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183859171	chr13:51173516-51173517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187410071	chr13:51173575-51173576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35635062	chr13:51173584-51173585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76082065	chr13:51173601-51173602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs202110459	chr13:51173602-51173603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200454510	chr13:51173603-51173604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201141877	chr13:51173604-51173605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112841954	chr13:51173644-51173645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553079825	chr13:51173650-51173651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149340502	chr13:51173718-51173719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570392241	chr13:51173727-51173728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190627205	chr13:51173730-51173731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs475883	chr13:51173732-51173733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116350959	chr13:51173737-51173738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143657608	chr13:51173738-51173739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560339631	chr13:51173742-51173743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115631720	chr13:51173763-51173764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117280701	chr13:51173793-51173794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74078107	chr13:51173800-51173801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6561585	chr13:51173811-51173812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:122)

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
Trisomy	24170809	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
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:51168000-51174000	Enhancers	Fetal Muscle Leg	muscle
3	chr13:51168000-51174400	Enhancers	Fetal Thymus	thymus
4	chr13:51168400-51174000	Enhancers	Left Ventricle	heart
5	chr13:51168800-51173800	Enhancers	Adipose Nuclei	Adipose
6	chr13:51169000-51174400	Enhancers	Fetal Heart	heart
7	chr13:51169200-51174000	Enhancers	Primary B cells from cord blood	blood
8	chr13:51169200-51174000	Enhancers	Thymus	Thymus
9	chr13:51169200-51174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:51169200-51174800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:51169800-51174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:51169800-51175000	Enhancers	Dnd41	blood
13	chr13:51171600-51174800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:51172600-51173800	Enhancers	Fetal Stomach	stomach
15	chr13:51172600-51174600	Enhancers	K562	blood
16	chr13:51173000-51174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:51173200-51173600	Enhancers	Fetal Lung	lung
18	chr13:51173400-51177000	Weak transcription	Right Ventricle	heart

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