Variant report

Variant	esv3371314
Chromosome Location	chr10:93374472-93375570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93325037..93327659-chr10:93375294..93378275,2	K562	blood:
2	chr10:93367612..93370294-chr10:93370474..93375742,6	K562	blood:
3	chr10:93375188..93376792-chr10:93378413..93380408,2	K562	blood:
4	chr10:93368114..93370333-chr10:93371852..93374475,3	K562	blood:
5	chr10:93371223..93372891-chr10:93374209..93376452,2	K562	blood:
6	chr10:93368141..93371067-chr10:93374418..93377017,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11186630	chr10:93374521-93374522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60400838	chr10:93374522-93374523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553165848	chr10:93374524-93374525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112096260	chr10:93374550-93374551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386746526	chr10:93374560-93374561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58049168	chr10:93374561-93374562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568730405	chr10:93374567-93374568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537445874	chr10:93374591-93374592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11186631	chr10:93374614-93374615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200316059	chr10:93374641-93374642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570853347	chr10:93374670-93374671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539960142	chr10:93374698-93374699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539278222	chr10:93374710-93374711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60276971	chr10:93374743-93374744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200344116	chr10:93374765-93374766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573937149	chr10:93374783-93374784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201742626	chr10:93374786-93374787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10786005	chr10:93374787-93374788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572229451	chr10:93374796-93374797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376305344	chr10:93374797-93374798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12770640	chr10:93374798-93374799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369884071	chr10:93374802-93374803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370132800	chr10:93374804-93374805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs36169735	chr10:93374811-93374812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373337543	chr10:93374814-93374815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374595304	chr10:93374818-93374819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534481677	chr10:93374826-93374827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554855243	chr10:93374827-93374828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10881932	chr10:93374831-93374832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11186632	chr10:93374838-93374839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36187020	chr10:93374851-93374852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543307316	chr10:93374852-93374853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562984470	chr10:93374854-93374855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58924419	chr10:93374860-93374861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12769100	chr10:93374861-93374862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368590891	chr10:93374870-93374871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369462928	chr10:93374874-93374875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373609235	chr10:93374878-93374879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36195092	chr10:93374884-93374885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576414366	chr10:93374967-93374968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34728775	chr10:93375046-93375047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545910620	chr10:93375086-93375087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181208731	chr10:93375170-93375171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73320159	chr10:93375237-93375238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375484027	chr10:93375270-93375271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144996685	chr10:93375301-93375302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78692035	chr10:93375330-93375331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73320161	chr10:93375361-93375362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551283510	chr10:93375378-93375379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73320162	chr10:93375392-93375393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93368000-93388600	Weak transcription	Brain Angular Gyrus	brain
2	chr10:93369000-93387600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:93369400-93378600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:93369400-93379200	Weak transcription	Liver	Liver
5	chr10:93369600-93387800	Weak transcription	Fetal Brain Male	brain
6	chr10:93371200-93376800	Weak transcription	Spleen	Spleen
7	chr10:93371400-93377000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:93371400-93381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:93371400-93383600	Weak transcription	Ovary	ovary
10	chr10:93371400-93383600	Weak transcription	Right Ventricle	heart
11	chr10:93371400-93386800	Weak transcription	Pancreas	Pancrea
12	chr10:93371600-93377000	Weak transcription	Esophagus	oesophagus
13	chr10:93373000-93374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:93373000-93374600	Enhancers	Fetal Muscle Leg	muscle
15	chr10:93373200-93374600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:93373200-93374800	Enhancers	NHEK	skin
17	chr10:93373600-93379200	Weak transcription	Fetal Lung	lung
18	chr10:93373800-93380800	Weak transcription	Right Atrium	heart
19	chr10:93374000-93374800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:93374000-93376400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:93374000-93381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:93374000-93384800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:93374000-93386200	Weak transcription	Left Ventricle	heart
24	chr10:93374000-93387000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:93374200-93374600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:93374200-93374600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:93374200-93374600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:93374200-93374600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:93374200-93374600	Enhancers	Hela-S3	cervix
30	chr10:93374200-93374600	Enhancers	NH-A	brain
31	chr10:93374200-93375400	Weak transcription	NHDF-Ad	bronchial
32	chr10:93374200-93376000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:93374200-93376000	Weak transcription	Osteobl	bone
34	chr10:93374200-93377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr10:93374200-93377000	Weak transcription	Psoas Muscle	Psoas
36	chr10:93374200-93377000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:93374200-93377000	Weak transcription	HSMM	muscle
38	chr10:93374200-93377000	Weak transcription	K562	blood
39	chr10:93374200-93377000	Weak transcription	NHLF	lung
40	chr10:93374200-93383000	Weak transcription	Fetal Heart	heart
41	chr10:93374200-93384000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:93374400-93374600	Enhancers	Fetal Muscle Trunk	muscle
43	chr10:93374400-93375200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:93374400-93376200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:93374400-93376200	Weak transcription	HMEC	breast
46	chr10:93374400-93376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:93374400-93376800	Weak transcription	HUVEC	blood vessel
48	chr10:93374400-93377000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:93374400-93377000	Weak transcription	Fetal Stomach	stomach
50	chr10:93374400-93377000	Weak transcription	Stomach Mucosa	stomach

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