Variant report

Variant	nsv948008
Chromosome Location	chr10:52500270-52536321
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	chr10:52476123..52479908-chr10:52500945..52503926,3	K562	blood:
2	chr10:52382538..52386733-chr10:52497918..52501112,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226200	chromatin interactions
ENSG00000198964	chromatin interactions

Extended variants
information (count: 432 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35294855	chr10:52500270-52500271	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34819118	chr10:52500278-52500279	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561305076	chr10:52500280-52500281	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527387349	chr10:52500281-52500282	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547060738	chr10:52500295-52500296	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34830433	chr10:52500305-52500306	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570348836	chr10:52500386-52500387	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533128309	chr10:52500393-52500394	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549856182	chr10:52500405-52500406	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375175607	chr10:52500422-52500423	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535348840	chr10:52500442-52500443	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192371033	chr10:52500443-52500444	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7078481	chr10:52500447-52500448	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116018469	chr10:52500469-52500470	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558264530	chr10:52500470-52500471	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570994113	chr10:52500490-52500491	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs79645576	chr10:52500532-52500533	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183119103	chr10:52500533-52500534	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574284095	chr10:52500616-52500617	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542906037	chr10:52500690-52500691	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146446047	chr10:52500815-52500816	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527278255	chr10:52500855-52500856	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139868371	chr10:52500869-52500870	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188248873	chr10:52500972-52500973	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368662592	chr10:52501008-52501009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113979752	chr10:52501025-52501026	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6479701	chr10:52501033-52501034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201460991	chr10:52501034-52501035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6479702	chr10:52501044-52501045	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs529212004	chr10:52501068-52501069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560195115	chr10:52501149-52501150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549266799	chr10:52501163-52501164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2820731	chr10:52501184-52501185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2820732	chr10:52501204-52501205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141057644	chr10:52501207-52501208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534991881	chr10:52501229-52501230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558329629	chr10:52501243-52501244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150266261	chr10:52501261-52501262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2820733	chr10:52501274-52501275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557532371	chr10:52501278-52501279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193082459	chr10:52501281-52501282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573641862	chr10:52501305-52501306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184894740	chr10:52501347-52501348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571755738	chr10:52501364-52501365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57813826	chr10:52501422-52501423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540616054	chr10:52501435-52501436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542763475	chr10:52501453-52501454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563699348	chr10:52501561-52501562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577672384	chr10:52501592-52501593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543125661	chr10:52501670-52501671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52498800-52500600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:52498800-52500600	Active TSS	HSMM	muscle
3	chr10:52498800-52500800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:52499000-52500400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:52499000-52500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:52499000-52500400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:52499000-52500400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:52499000-52500400	Active TSS	Brain Cingulate Gyrus	brain
11	chr10:52499000-52500400	Active TSS	Brain Germinal Matrix	brain
12	chr10:52499000-52500400	Active TSS	Colonic Mucosa	Colon
13	chr10:52499000-52500400	Active TSS	Fetal Intestine Large	intestine
14	chr10:52499000-52500400	Active TSS	Ovary	ovary
15	chr10:52499000-52500400	Active TSS	Thymus	Thymus
16	chr10:52499000-52500400	Active TSS	HSMMtube	muscle
17	chr10:52499000-52500600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr10:52499000-52500600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr10:52499000-52500600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr10:52499000-52500600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:52499000-52500600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:52499000-52500600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:52499000-52500600	Active TSS	Primary B cells from cord blood	blood
24	chr10:52499000-52500600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:52499000-52500600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:52499000-52500600	Active TSS	Brain Angular Gyrus	brain
27	chr10:52499000-52500600	Active TSS	Brain Anterior Caudate	brain
28	chr10:52499000-52500600	Active TSS	Brain Hippocampus Middle	brain
29	chr10:52499000-52500600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr10:52499000-52500600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:52499000-52500600	Active TSS	Fetal Kidney	kidney
32	chr10:52499000-52500600	Active TSS	Psoas Muscle	Psoas
33	chr10:52499000-52500600	Active TSS	Rectal Smooth Muscle	rectum
34	chr10:52499000-52500600	Active TSS	Right Ventricle	heart
35	chr10:52499000-52500600	Active TSS	A549	lung
36	chr10:52499000-52500600	Active TSS	GM12878-XiMat	blood
37	chr10:52499000-52500600	Active TSS	NHDF-Ad	bronchial
38	chr10:52499000-52500600	Active TSS	NHLF	lung
39	chr10:52499000-52500800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr10:52499000-52500800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr10:52499000-52500800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:52499000-52500800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr10:52499000-52500800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr10:52499000-52500800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr10:52499000-52500800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:52499000-52500800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr10:52499200-52500400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr10:52499200-52500400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr10:52499200-52500400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:52499200-52500400	Active TSS	Aorta	Aorta

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