Variant report

Variant	nsv825383
Chromosome Location	chr10:54041851-54043434
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	chr10:54040036..54043559-chr10:54043700..54046471,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567906949	chr10:54041853-54041854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370323468	chr10:54041856-54041857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11001441	chr10:54041861-54041862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375445958	chr10:54041873-54041874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369808338	chr10:54041891-54041892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74905373	chr10:54041943-54041944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370755321	chr10:54041978-54041979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368573664	chr10:54041981-54041982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs267602522	chr10:54041999-54042000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562736939	chr10:54042002-54042003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200771178	chr10:54042011-54042012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374202731	chr10:54042029-54042030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376012509	chr10:54042042-54042043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547952925	chr10:54042074-54042075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572453153	chr10:54042144-54042145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561663855	chr10:54042171-54042172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527538896	chr10:54042177-54042178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546990514	chr10:54042185-54042186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570347479	chr10:54042211-54042212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539558354	chr10:54042235-54042236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16928850	chr10:54042254-54042255	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569706342	chr10:54042278-54042279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151230499	chr10:54042281-54042282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555959293	chr10:54042322-54042323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193199056	chr10:54042327-54042328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535333613	chr10:54042329-54042330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558225418	chr10:54042429-54042430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577944055	chr10:54042515-54042516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140068416	chr10:54042531-54042532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79054918	chr10:54042542-54042543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541630198	chr10:54042547-54042548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11001444	chr10:54042556-54042557	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185179917	chr10:54042565-54042566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149890041	chr10:54042695-54042696	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564138425	chr10:54042746-54042747	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187228923	chr10:54042773-54042774	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191746704	chr10:54042776-54042777	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117490242	chr10:54042779-54042780	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs16928871	chr10:54042782-54042783	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549645860	chr10:54042804-54042805	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11001445	chr10:54042858-54042859	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs117428114	chr10:54042859-54042860	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558144687	chr10:54042934-54042935	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183878272	chr10:54042938-54042939	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576854918	chr10:54042939-54042940	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545928984	chr10:54042999-54043000	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147587044	chr10:54043021-54043022	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369782397	chr10:54043048-54043049	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574049935	chr10:54043076-54043077	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542706979	chr10:54043087-54043088	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	20164919	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54017400-54042600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:54017400-54049600	Weak transcription	Left Ventricle	heart
4	chr10:54023600-54042000	Weak transcription	Psoas Muscle	Psoas
5	chr10:54028000-54045600	Weak transcription	NHDF-Ad	bronchial
6	chr10:54029800-54055400	Weak transcription	Fetal Lung	lung
7	chr10:54031400-54042200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:54032200-54044200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:54036000-54050400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:54036800-54047400	Weak transcription	Fetal Intestine Large	intestine
11	chr10:54037800-54056000	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:54039400-54042400	Weak transcription	HSMMtube	muscle
13	chr10:54039400-54042800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:54040400-54044600	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:54040600-54057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:54040800-54045400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:54041000-54042000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:54041000-54048600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:54041400-54042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:54041400-54068200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:54042000-54042800	Enhancers	Aorta	Aorta
22	chr10:54042000-54043000	Enhancers	Psoas Muscle	Psoas
23	chr10:54042000-54043200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:54042000-54044600	Weak transcription	Adipose Nuclei	Adipose
25	chr10:54042200-54042800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:54042400-54043200	Enhancers	HSMMtube	muscle
27	chr10:54042600-54043200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:54042600-54043400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:54042800-54043000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:54042800-54043200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr10:54042800-54068200	Weak transcription	Aorta	Aorta
32	chr10:54043000-54043200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr10:54043000-54044600	Weak transcription	Psoas Muscle	Psoas
34	chr10:54043200-54044400	Weak transcription	HSMMtube	muscle
35	chr10:54043200-54047800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr10:54043200-54054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:54043200-54060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:54043200-54067800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:54043400-54044400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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