Variant report

Variant	esv2500927
Chromosome Location	chr10:52132081-52133610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52132102..52134129-chr10:52137496..52139624,2	K562	blood:
2	chr10:52105040..52107754-chr10:52130504..52132718,2	MCF-7	breast:
3	chr10:52132819..52134741-chr10:52135257..52137397,2	K562	blood:
4	chr10:52125875..52128899-chr10:52129822..52132966,4	K562	blood:
5	chr10:52128591..52131322-chr10:52132559..52135165,2	MCF-7	breast:
6	chr10:52133378..52136507-chr10:52147936..52151266,3	MCF-7	breast:
7	chr10:52131563..52133207-chr10:52144228..52146255,2	K562	blood:
8	chr10:52131941..52133571-chr10:52135239..52137791,2	MCF-7	breast:

No data

Extended variants
information (count: 73 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150519975	chr10:52132094-52132095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571599583	chr10:52132096-52132097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375680612	chr10:52132108-52132109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73330964	chr10:52132182-52132183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187795376	chr10:52132193-52132194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567777967	chr10:52132194-52132195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536814435	chr10:52132213-52132214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553325846	chr10:52132220-52132221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2688876	chr10:52132221-52132222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2688877	chr10:52132230-52132231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559205098	chr10:52132236-52132237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577524022	chr10:52132237-52132238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7475420	chr10:52132278-52132279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2688878	chr10:52132290-52132291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551096763	chr10:52132352-52132353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192237734	chr10:52132370-52132371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2842108	chr10:52132402-52132403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373320132	chr10:52132453-52132454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368231492	chr10:52132455-52132456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72325997	chr10:52132456-52132457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56853284	chr10:52132470-52132471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528386073	chr10:52132477-52132478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149019498	chr10:52132502-52132503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571529227	chr10:52132543-52132544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530893991	chr10:52132567-52132568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557064483	chr10:52132572-52132573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184391683	chr10:52132579-52132580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549883261	chr10:52132641-52132642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188010392	chr10:52132676-52132677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553527524	chr10:52132701-52132702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5784830	chr10:52132707-52132708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397698648	chr10:52132715-52132716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199502870	chr10:52132716-52132717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566903464	chr10:52132717-52132718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11005387	chr10:52132743-52132744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs151045759	chr10:52132768-52132769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200773233	chr10:52132782-52132783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58417005	chr10:52132783-52132784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192824392	chr10:52132830-52132831	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556576894	chr10:52132930-52132931	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573394758	chr10:52132961-52132962	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2255720	chr10:52132986-52132987	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368765520	chr10:52132987-52132988	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571299213	chr10:52133002-52133003	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10763373	chr10:52133003-52133004	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545205150	chr10:52133014-52133015	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565005158	chr10:52133044-52133045	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184752432	chr10:52133057-52133058	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547376289	chr10:52133060-52133061	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561983031	chr10:52133078-52133079	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52104000-52134000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:52104000-52141400	Weak transcription	Pancreas	Pancrea
3	chr10:52104200-52133600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:52104200-52134200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr10:52104200-52157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:52109400-52134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:52115800-52142200	Weak transcription	Fetal Intestine Small	intestine
8	chr10:52117400-52133400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:52119000-52133200	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:52119400-52134000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:52119400-52136000	Weak transcription	Fetal Brain Male	brain
12	chr10:52120400-52133000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:52120600-52133800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:52120600-52141400	Weak transcription	HSMM	muscle
15	chr10:52120800-52133000	Weak transcription	HSMMtube	muscle
16	chr10:52120800-52133400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:52120800-52133600	Weak transcription	Osteobl	bone
18	chr10:52121200-52134400	Weak transcription	Fetal Stomach	stomach
19	chr10:52121200-52136600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:52121200-52141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:52121400-52133000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:52121400-52139400	Weak transcription	Placenta	Placenta
23	chr10:52121600-52132400	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:52121600-52134000	Weak transcription	Esophagus	oesophagus
25	chr10:52121800-52132800	Weak transcription	Brain Substantia Nigra	brain
26	chr10:52121800-52134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:52121800-52134000	Weak transcription	Liver	Liver
28	chr10:52121800-52134000	Weak transcription	Right Atrium	heart
29	chr10:52121800-52134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:52121800-52135000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr10:52122000-52134000	Weak transcription	Brain Anterior Caudate	brain
32	chr10:52122200-52133000	Weak transcription	NHDF-Ad	bronchial
33	chr10:52122800-52134600	Weak transcription	HUVEC	blood vessel
34	chr10:52123400-52134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:52123400-52134400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr10:52123400-52134400	Weak transcription	Primary T cells from cord blood	blood
37	chr10:52123400-52134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:52123400-52134400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr10:52123400-52134800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:52123400-52136800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:52124600-52139400	Weak transcription	Primary B cells from cord blood	blood
42	chr10:52124800-52132800	Weak transcription	Fetal Heart	heart
43	chr10:52125400-52134000	Weak transcription	Left Ventricle	heart
44	chr10:52125400-52134400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:52129000-52141600	Weak transcription	Hela-S3	cervix
46	chr10:52129200-52134400	Weak transcription	HMEC	breast
47	chr10:52129800-52132800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:52130000-52134200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:52131600-52132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:52131600-52132800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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