Variant report

Variant	esv3385395
Chromosome Location	chr10:61496377-61496931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:61484293..61486281-chr10:61496139..61498456,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A9-1	chr10:61496753-61496978	ENSG00000227877.2
2	lnc-SLC16A9-1	chr10:61496748-61496978	NONHSAT013529
3	lnc-SLC16A9-1	chr10:61496748-61496978	NONHSAT013528
4	lnc-SLC16A9-1	chr10:61496753-61496978	ENSG00000227877
5	lnc-SLC16A9-1	chr10:61496753-61496978	ENSG00000227877

No data

Extended variants
information (count: 22 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550168459	chr10:61496378-61496379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34384010	chr10:61496391-61496392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190685039	chr10:61496403-61496404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535485579	chr10:61496434-61496435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73267546	chr10:61496482-61496483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182302916	chr10:61496483-61496484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185678645	chr10:61496494-61496495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572430946	chr10:61496510-61496511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190104425	chr10:61496511-61496512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554931033	chr10:61496523-61496524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570912229	chr10:61496534-61496535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576697022	chr10:61496555-61496556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181491791	chr10:61496560-61496561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371028293	chr10:61496575-61496576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536597163	chr10:61496613-61496614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113831480	chr10:61496621-61496622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140987653	chr10:61496704-61496705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531853712	chr10:61496789-61496790	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs145022139	chr10:61496840-61496841	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs559517905	chr10:61496852-61496853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs574531009	chr10:61496877-61496878	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs542021027	chr10:61496922-61496923	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61494800-61497600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr10:61495200-61507400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr10:61496000-61497000	Weak transcription	Stomach Mucosa	stomach
4	chr10:61496000-61500600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:61496000-61507200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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