Variant report

Variant	esv3373331
Chromosome Location	chr10:45156246-45160444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369110602	chr10:45156248-45156249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149571155	chr10:45156278-45156279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556884794	chr10:45156287-45156288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35474651	chr10:45156307-45156308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113283104	chr10:45156324-45156325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536093755	chr10:45156395-45156396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35348242	chr10:45156416-45156417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572763835	chr10:45156417-45156418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74628068	chr10:45156424-45156425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187186331	chr10:45156453-45156454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144377788	chr10:45156497-45156498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544781432	chr10:45156501-45156502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563033435	chr10:45156543-45156544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530422889	chr10:45156544-45156545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542515929	chr10:45156568-45156569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139040109	chr10:45156572-45156573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142132252	chr10:45156579-45156580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552418685	chr10:45156605-45156606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6593435	chr10:45156644-45156645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs532248746	chr10:45156650-45156651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550364133	chr10:45156689-45156690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576933578	chr10:45156738-45156739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201887584	chr10:45156750-45156751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373918289	chr10:45156759-45156760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532977122	chr10:45156773-45156774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190108059	chr10:45156801-45156802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183757022	chr10:45156821-45156822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536156513	chr10:45156830-45156831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114872913	chr10:45156920-45156921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78749749	chr10:45156927-45156928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146366426	chr10:45156940-45156941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557447842	chr10:45156958-45156959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558408064	chr10:45156960-45156961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572928743	chr10:45157015-45157016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371861705	chr10:45157016-45157017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537896328	chr10:45157025-45157026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76479502	chr10:45157026-45157027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78681734	chr10:45157070-45157071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542576746	chr10:45157087-45157088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188485652	chr10:45157088-45157089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572396962	chr10:45157142-45157143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78514617	chr10:45157203-45157204	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs564283982	chr10:45157223-45157224	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs139146806	chr10:45157231-45157232	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs549827323	chr10:45157262-45157263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs575801930	chr10:45157277-45157278	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs562376630	chr10:45157278-45157279	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs529816723	chr10:45157284-45157285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs193075666	chr10:45157285-45157286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs72778822	chr10:45157293-45157294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45154800-45156400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:45154800-45156400	Enhancers	NHDF-Ad	bronchial
3	chr10:45154800-45158000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:45155000-45156800	Enhancers	HSMMtube	muscle
5	chr10:45155000-45159600	Enhancers	Fetal Muscle Leg	muscle
6	chr10:45155200-45156400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr10:45155200-45156600	Enhancers	NHLF	lung
8	chr10:45155200-45157400	Weak transcription	Aorta	Aorta
9	chr10:45155600-45156400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:45155600-45156400	Enhancers	NH-A	brain
11	chr10:45155600-45156400	Enhancers	Osteobl	bone
12	chr10:45155800-45156800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:45156000-45156400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:45156000-45156600	Enhancers	Fetal Stomach	stomach
15	chr10:45156000-45156800	Enhancers	Pancreas	Pancrea
16	chr10:45156200-45156400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr10:45156200-45158000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:45156400-45157200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:45156400-45157600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:45156400-45157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:45156400-45161600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:45156400-45175800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:45156600-45157000	Weak transcription	Fetal Stomach	stomach
24	chr10:45156600-45157600	Weak transcription	NHLF	lung
25	chr10:45156800-45157200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:45156800-45157200	Weak transcription	HSMMtube	muscle
27	chr10:45157000-45158000	Enhancers	Fetal Stomach	stomach
28	chr10:45157200-45157400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:45157200-45157600	Enhancers	HSMMtube	muscle
30	chr10:45157200-45158000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:45157200-45158000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:45157200-45158000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:45157200-45159000	Enhancers	Fetal Muscle Trunk	muscle
34	chr10:45157400-45157800	Enhancers	Aorta	Aorta
35	chr10:45157400-45162200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:45157800-45158000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:45157800-45158000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr10:45157800-45158000	Enhancers	NHLF	lung
39	chr10:45158000-45159600	Weak transcription	Fetal Stomach	stomach
40	chr10:45158000-45161400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:45158000-45161600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:45159000-45159800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:45159200-45160000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:45159600-45159800	Enhancers	Fetal Stomach	stomach
45	chr10:45160000-45161400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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