Variant report

Variant	nsv550880
Chromosome Location	chr10:54016062-54016619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12263153	chr10:54016062-54016063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190895568	chr10:54016086-54016087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566544463	chr10:54016092-54016093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7907343	chr10:54016099-54016100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112911889	chr10:54016102-54016103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538149006	chr10:54016124-54016125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559141471	chr10:54016200-54016201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148603556	chr10:54016268-54016269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538576731	chr10:54016311-54016312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141167128	chr10:54016346-54016347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146205696	chr10:54016356-54016357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139247306	chr10:54016395-54016396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553872068	chr10:54016410-54016411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183887039	chr10:54016455-54016456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541949623	chr10:54016497-54016498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11001385	chr10:54016619-54016620	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Autism	18414403	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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54008800-54016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:54010000-54023200	Weak transcription	Psoas Muscle	Psoas
4	chr10:54011000-54016600	Weak transcription	HSMM	muscle
5	chr10:54012800-54019000	Weak transcription	Right Atrium	heart
6	chr10:54014200-54016800	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:54014800-54016400	Weak transcription	HSMMtube	muscle
8	chr10:54015000-54016600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:54015200-54018600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:54016000-54017400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:54016000-54019600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:54016000-54019600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr10:54016200-54016600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:54016200-54016800	Enhancers	Hela-S3	cervix
15	chr10:54016200-54017200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:54016400-54016800	Enhancers	HSMMtube	muscle
17	chr10:54016400-54017200	Enhancers	HMEC	breast
18	chr10:54016400-54017400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:54016400-54017400	Enhancers	NHEK	skin
20	chr10:54016600-54016800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr10:54016600-54016800	Enhancers	GM12878-XiMat	blood
22	chr10:54016600-54017000	Enhancers	Fetal Intestine Large	intestine
23	chr10:54016600-54017200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:54016600-54017200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:54016600-54017200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr10:54016600-54017200	Enhancers	HSMM	muscle
27	chr10:54016600-54017400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:54016600-54017400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:54016600-54017400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:54016600-54017400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:54016600-54017400	Enhancers	A549	lung

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