Variant report

Variant	esv2327673
Chromosome Location	chr13:50474707-50475156
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	chr13:50472956..50475084-chr13:50475360..50476987,2	MCF-7	breast:
2	chr13:50474382..50476998-chr13:50509261..50512069,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123178	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 123 )

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	rs75028415	chr13:50474711-50474712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187185348	chr13:50474722-50474723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190463851	chr13:50474723-50474724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200635572	chr13:50474727-50474728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547842576	chr13:50474745-50474746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201975955	chr13:50474746-50474747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200177674	chr13:50474750-50474751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201479283	chr13:50474751-50474752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs59514064	chr13:50474863-50474864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs57104849	chr13:50474867-50474868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56279204	chr13:50474880-50474881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57307396	chr13:50474882-50474883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs55750930	chr13:50474899-50474900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs59216997	chr13:50474905-50474906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539066890	chr13:50474906-50474907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143548668	chr13:50474910-50474911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs58635401	chr13:50474922-50474923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55746041	chr13:50474932-50474933	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553879301	chr13:50474946-50474947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201285218	chr13:50474950-50474951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60401143	chr13:50474955-50474956	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543157127	chr13:50474965-50474966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9535406	chr13:50474979-50474980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371597217	chr13:50475050-50475051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576330234	chr13:50475064-50475065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182913637	chr13:50475149-50475150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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	17899364	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
Alveolar rhabdomyosarcoma	16790082	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
Congenital anomalies of the kidney and urinary tract	20467480	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
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50468600-50486000	Weak transcription	Liver	Liver
2	chr13:50473000-50476600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links