Variant report

Variant	nsv975800
Chromosome Location	chr10:89527824-89531408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:89522883..89524581-chr10:89525481..89528269,2	K562	blood:
2	chr10:89523125..89525014-chr10:89530627..89532236,2	MCF-7	breast:
3	chr10:89527650..89529882-chr10:89533805..89535747,2	K562	blood:
4	chr10:89293288..89293802-chr10:89531355..89532198,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555294180	chr10:89527824-89527825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576844901	chr10:89527915-89527916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553305584	chr10:89527920-89527921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578101284	chr10:89527933-89527934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190889887	chr10:89527941-89527942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180944066	chr10:89527947-89527948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577233347	chr10:89527972-89527973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541176921	chr10:89528073-89528074	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559452843	chr10:89528110-89528111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538967269	chr10:89528130-89528131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529830588	chr10:89528166-89528167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553542833	chr10:89528194-89528195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541656008	chr10:89528209-89528210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563219133	chr10:89528231-89528232	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376772721	chr10:89528235-89528236	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73352855	chr10:89528396-89528397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552114977	chr10:89528415-89528416	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570359887	chr10:89528433-89528434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528138524	chr10:89528445-89528446	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1923262	chr10:89528470-89528471	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186187547	chr10:89528657-89528658	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557590989	chr10:89528739-89528740	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555232440	chr10:89528742-89528743	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570338294	chr10:89528746-89528747	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537361792	chr10:89528802-89528803	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112346228	chr10:89528841-89528842	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577172495	chr10:89528846-89528847	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541462292	chr10:89528879-89528880	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577883885	chr10:89528883-89528884	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56198886	chr10:89528887-89528888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541594650	chr10:89528891-89528892	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563158000	chr10:89528910-89528911	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74700950	chr10:89529063-89529064	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370940615	chr10:89529090-89529091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147086663	chr10:89529122-89529123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190968649	chr10:89529155-89529156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528067076	chr10:89529159-89529160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543206608	chr10:89529219-89529220	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546612509	chr10:89529231-89529232	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568141601	chr10:89529252-89529253	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529022365	chr10:89529256-89529257	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138503971	chr10:89529266-89529267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183540396	chr10:89529284-89529285	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143478817	chr10:89529363-89529364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558983597	chr10:89529380-89529381	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78690353	chr10:89529383-89529384	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111314760	chr10:89529413-89529414	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187503497	chr10:89529430-89529431	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534687020	chr10:89529481-89529482	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190679066	chr10:89529506-89529507	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Thoracic aortic aneurysm	21092924	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Autism	22241247	CNVD
Intracranial ependymoma	16609018	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89463000-89541400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:89473000-89577200	Weak transcription	Gastric	stomach
3	chr10:89476200-89542400	Weak transcription	Pancreas	Pancrea
4	chr10:89495000-89541400	Weak transcription	Right Ventricle	heart
5	chr10:89495000-89576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:89495200-89530600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:89495200-89542600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:89495200-89544600	Weak transcription	Brain Substantia Nigra	brain
9	chr10:89495200-89559200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:89495200-89577400	Weak transcription	Spleen	Spleen
11	chr10:89498200-89541400	Weak transcription	Aorta	Aorta
12	chr10:89498800-89536200	Weak transcription	Small Intestine	intestine
13	chr10:89503400-89528400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr10:89504200-89551800	Weak transcription	Psoas Muscle	Psoas
15	chr10:89507000-89557600	Weak transcription	Lung	lung
16	chr10:89510200-89553800	Weak transcription	Esophagus	oesophagus
17	chr10:89511000-89576800	Weak transcription	Colonic Mucosa	Colon
18	chr10:89512800-89560400	Weak transcription	Fetal Brain Male	brain
19	chr10:89513400-89577000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:89514600-89528600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr10:89514600-89534600	Weak transcription	Ovary	ovary
22	chr10:89514600-89539800	Weak transcription	Fetal Kidney	kidney
23	chr10:89516000-89541200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:89516200-89535400	Weak transcription	Brain Anterior Caudate	brain
25	chr10:89516400-89528400	Weak transcription	Adipose Nuclei	Adipose
26	chr10:89516400-89541400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:89516400-89557800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr10:89518200-89556600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:89518400-89559000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr10:89519000-89530800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:89520200-89542800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:89520400-89535600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:89520400-89556400	Weak transcription	Brain Germinal Matrix	brain
34	chr10:89520600-89575600	Weak transcription	Stomach Mucosa	stomach
35	chr10:89520800-89529000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr10:89521800-89540400	Weak transcription	Thymus	Thymus
37	chr10:89522200-89535200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr10:89522400-89528200	Weak transcription	NHEK	skin
39	chr10:89522400-89535400	Weak transcription	NHLF	lung
40	chr10:89522600-89530400	Strong transcription	GM12878-XiMat	blood
41	chr10:89522600-89530800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:89523000-89528400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:89523000-89530400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:89523000-89530600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:89523000-89530600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr10:89523000-89530800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr10:89523000-89530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:89523000-89531000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr10:89523000-89531400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:89523200-89530600	Strong transcription	Duodenum Mucosa	Duodenum

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