Variant report

Variant	esv1822881
Chromosome Location	chr10:52999550-53002930
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	chr10:53000277..53002226-chr10:53004321..53006404,2	K562	blood:

Variant related genes	Relation type
ENSG00000231132	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545686252	chr10:52999598-52999599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150578466	chr10:52999613-52999614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531867944	chr10:52999650-52999651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79914582	chr10:52999672-52999673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562101412	chr10:52999727-52999728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577355522	chr10:52999729-52999730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527752910	chr10:52999745-52999746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368610718	chr10:52999765-52999766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114572224	chr10:52999799-52999800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548117346	chr10:52999827-52999828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368148147	chr10:52999849-52999850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75381926	chr10:52999960-52999961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373686300	chr10:53000060-53000061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185363665	chr10:53000061-53000062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530332258	chr10:53000075-53000076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78255411	chr10:53000096-53000097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537582304	chr10:53000146-53000147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139632655	chr10:53000156-53000157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149659287	chr10:53000267-53000268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533554844	chr10:53000278-53000279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200124124	chr10:53000335-53000336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144431894	chr10:53000355-53000356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187606432	chr10:53000359-53000360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72793269	chr10:53000422-53000423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs57949328	chr10:53000431-53000432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576597996	chr10:53000438-53000439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs60296758	chr10:53000444-53000445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112175811	chr10:53000470-53000471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144037881	chr10:53000534-53000535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527637702	chr10:53000622-53000623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10996282	chr10:53000645-53000646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
32	rs564773366	chr10:53000739-53000740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533485274	chr10:53000844-53000845	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201803931	chr10:53000853-53000854	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549945774	chr10:53000858-53000859	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376799917	chr10:53000864-53000865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117860811	chr10:53000874-53000875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541783812	chr10:53000939-53000940	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547832962	chr10:53000961-53000962	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370227697	chr10:53000970-53000971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs80117721	chr10:53001002-53001003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12768316	chr10:53001009-53001010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553512525	chr10:53001012-53001013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570705826	chr10:53001022-53001023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192101953	chr10:53001027-53001028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75588528	chr10:53001031-53001032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184323779	chr10:53001048-53001049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146470821	chr10:53001050-53001051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188674804	chr10:53001051-53001052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546906226	chr10:53001067-53001068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52991200-53003000	Weak transcription	Left Ventricle	heart
2	chr10:52992000-53006200	Weak transcription	Aorta	Aorta
3	chr10:52992200-53003600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:52992200-53009600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:52992800-53002200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:52993000-53003200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:52994000-53003200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:52998200-52999800	Enhancers	Right Atrium	heart
9	chr10:52999400-52999800	Enhancers	Psoas Muscle	Psoas
10	chr10:52999800-53001800	Weak transcription	Psoas Muscle	Psoas
11	chr10:52999800-53004600	Weak transcription	Right Atrium	heart
12	chr10:53000000-53004400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr10:53000400-53002000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:53000400-53004200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:53000600-53004000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:53000800-53001000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:53001000-53001200	Enhancers	Colon Smooth Muscle	Colon
18	chr10:53001000-53001400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:53001000-53001800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:53001000-53001800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:53001000-53001800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:53001200-53001600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:53001200-53002000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:53001200-53005800	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:53001400-53003200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:53001600-53001800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr10:53001600-53002200	Enhancers	Brain Germinal Matrix	brain
28	chr10:53001600-53002800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:53001800-53003400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:53001800-53004200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:53001800-53004800	Enhancers	Psoas Muscle	Psoas
32	chr10:53001800-53005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr10:53002000-53003000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:53002000-53003600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:53002200-53002400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr10:53002400-53002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:53002400-53003800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:53002800-53003600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr10:53002800-53003600	Enhancers	Skeletal Muscle Female	skeletal muscle

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