Variant report

Variant	esv3341903
Chromosome Location	chr10:93373522-93376220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93368141..93371067-chr10:93374418..93377017,2	MCF-7	breast:
2	chr10:93362637..93365388-chr10:93371389..93374177,2	MCF-7	breast:
3	chr10:93371223..93372891-chr10:93374209..93376452,2	K562	blood:
4	chr10:93375188..93376792-chr10:93378413..93380408,2	K562	blood:
5	chr10:93325037..93327659-chr10:93375294..93378275,2	K562	blood:
6	chr10:93368114..93370333-chr10:93371852..93374475,3	K562	blood:
7	chr10:93367612..93370294-chr10:93370474..93375742,6	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375707175	chr10:93373525-93373526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs35629810	chr10:93373527-93373528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75294341	chr10:93373540-93373541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571218547	chr10:93373547-93373548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565037553	chr10:93373637-93373638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147631679	chr10:93373649-93373650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191278911	chr10:93373705-93373706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373314349	chr10:93373710-93373711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560975675	chr10:93373749-93373750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571848458	chr10:93373755-93373756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184987487	chr10:93373772-93373773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7071622	chr10:93373841-93373842	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140843267	chr10:93373858-93373859	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75290774	chr10:93373896-93373897	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150128938	chr10:93373941-93373942	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115028037	chr10:93373966-93373967	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188675912	chr10:93373993-93373994	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138225385	chr10:93374038-93374039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568490865	chr10:93374054-93374055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149586779	chr10:93374131-93374132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557500132	chr10:93374132-93374133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs193188429	chr10:93374134-93374135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145026966	chr10:93374189-93374190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138801998	chr10:93374203-93374204	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185128344	chr10:93374229-93374230	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572133996	chr10:93374241-93374242	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12354606	chr10:93374242-93374243	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557085370	chr10:93374319-93374320	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs560994805	chr10:93374356-93374357	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142282139	chr10:93374363-93374364	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs57609269	chr10:93374395-93374396	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs58579342	chr10:93374403-93374404	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7094024	chr10:93374452-93374453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11186630	chr10:93374521-93374522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs60400838	chr10:93374522-93374523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553165848	chr10:93374524-93374525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112096260	chr10:93374550-93374551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386746526	chr10:93374560-93374561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58049168	chr10:93374561-93374562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568730405	chr10:93374567-93374568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537445874	chr10:93374591-93374592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11186631	chr10:93374614-93374615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200316059	chr10:93374641-93374642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570853347	chr10:93374670-93374671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539960142	chr10:93374698-93374699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539278222	chr10:93374710-93374711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60276971	chr10:93374743-93374744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200344116	chr10:93374765-93374766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573937149	chr10:93374783-93374784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201742626	chr10:93374786-93374787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93367400-93373600	Enhancers	NHDF-Ad	bronchial
2	chr10:93368000-93388600	Weak transcription	Brain Angular Gyrus	brain
3	chr10:93368800-93373600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:93368800-93373800	Weak transcription	Small Intestine	intestine
5	chr10:93369000-93387600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:93369200-93373600	Weak transcription	Colonic Mucosa	Colon
7	chr10:93369400-93373600	Weak transcription	Adipose Nuclei	Adipose
8	chr10:93369400-93378600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:93369400-93379200	Weak transcription	Liver	Liver
10	chr10:93369600-93387800	Weak transcription	Fetal Brain Male	brain
11	chr10:93370400-93374200	Enhancers	Fetal Heart	heart
12	chr10:93371200-93376800	Weak transcription	Spleen	Spleen
13	chr10:93371400-93373800	Weak transcription	Psoas Muscle	Psoas
14	chr10:93371400-93374400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:93371400-93377000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:93371400-93381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:93371400-93383600	Weak transcription	Ovary	ovary
18	chr10:93371400-93383600	Weak transcription	Right Ventricle	heart
19	chr10:93371400-93386800	Weak transcription	Pancreas	Pancrea
20	chr10:93371600-93373600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr10:93371600-93377000	Weak transcription	Esophagus	oesophagus
22	chr10:93371800-93373600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:93371800-93373600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:93371800-93373600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:93372200-93374200	Enhancers	K562	blood
26	chr10:93372400-93374200	Enhancers	NHLF	lung
27	chr10:93372800-93373600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr10:93372800-93374200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:93372800-93374200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr10:93372800-93374200	Flanking Active TSS	HSMMtube	muscle
31	chr10:93372800-93374400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:93372800-93374400	Enhancers	Fetal Stomach	stomach
33	chr10:93372800-93374400	Enhancers	HUVEC	blood vessel
34	chr10:93373000-93373600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr10:93373000-93374000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:93373000-93374000	Enhancers	Left Ventricle	heart
37	chr10:93373000-93374200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:93373000-93374200	Enhancers	Colon Smooth Muscle	Colon
39	chr10:93373000-93374200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr10:93373000-93374200	Enhancers	Rectal Smooth Muscle	rectum
41	chr10:93373000-93374200	Flanking Active TSS	Hela-S3	cervix
42	chr10:93373000-93374200	Flanking Active TSS	NH-A	brain
43	chr10:93373000-93374200	Flanking Active TSS	Osteobl	bone
44	chr10:93373000-93374400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:93373000-93374400	Enhancers	Stomach Mucosa	stomach
46	chr10:93373000-93374400	Enhancers	HMEC	breast
47	chr10:93373000-93374600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:93373000-93374600	Enhancers	Fetal Muscle Leg	muscle
49	chr10:93373200-93373600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:93373200-93373600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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