Variant report

Variant	nsv1053758
Chromosome Location	chr10:54993785-55046152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55015124..55017354-chr10:55018929..55021209,2	K562	blood:
2	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:
3	chr10:55015124..55017354-chr10:55018929..55021209,2	K562	blood:
4	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
5	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:
6	chr10:55010159..55011051-chr10:101190203..101191138,2	Hela-S3	cervix:
7	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:

Variant related genes	Relation type
ENSG00000224934	chromatin interactions
ENSG00000120053	chromatin interactions

Extended variants
information (count: 1388 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1388 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12412557	chr10:54993785-54993786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371921863	chr10:54993814-54993815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536395136	chr10:54993835-54993836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528005648	chr10:54993841-54993842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1903947	chr10:54993854-54993855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183184345	chr10:54993858-54993859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538674587	chr10:54993873-54993874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10824953	chr10:54993880-54993881	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185645933	chr10:54993884-54993885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543730586	chr10:54993903-54993904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1903948	chr10:54993937-54993938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573880198	chr10:54993943-54993944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542800584	chr10:54993955-54993956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369366416	chr10:54993967-54993968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190453271	chr10:54994004-54994005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528162543	chr10:54994047-54994048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182909618	chr10:54994067-54994068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11003477	chr10:54994079-54994080	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187544111	chr10:54994080-54994081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7476123	chr10:54994087-54994088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72787116	chr10:54994111-54994112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567574675	chr10:54994203-54994204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193277011	chr10:54994278-54994279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150865257	chr10:54994300-54994301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182440964	chr10:54994340-54994341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563788774	chr10:54994372-54994373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187816979	chr10:54994400-54994401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114235758	chr10:54994423-54994424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539106070	chr10:54994453-54994454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72787118	chr10:54994520-54994521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558721290	chr10:54994527-54994528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575591371	chr10:54994532-54994533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538193159	chr10:54994533-54994534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554404972	chr10:54994589-54994590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139415673	chr10:54994627-54994628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144137539	chr10:54994658-54994659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542863794	chr10:54994707-54994708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559479534	chr10:54994737-54994738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7905152	chr10:54994758-54994759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545080279	chr10:54994761-54994762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192431735	chr10:54994807-54994808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140749502	chr10:54994809-54994810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547883725	chr10:54994844-54994845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561262620	chr10:54994901-54994902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1903949	chr10:54994915-54994916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375950516	chr10:54994962-54994963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530303818	chr10:54994965-54994966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546910665	chr10:54994976-54994977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35378726	chr10:54994982-54994983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184158480	chr10:54994988-54994989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54985200-55005200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:54992200-54994000	Enhancers	Fetal Heart	heart
3	chr10:54993200-54994000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:54993400-54993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:54993600-54994000	Enhancers	Fetal Lung	lung
6	chr10:54993600-54994600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:54996400-54996800	Enhancers	Fetal Intestine Small	intestine
8	chr10:54996600-54997400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr10:55003200-55004000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:55005200-55006200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55005600-55007000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr10:55005800-55006000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:55006000-55006800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:55006200-55011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:55006800-55007200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:55006800-55007200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr10:55011000-55011200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:55011200-55011600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr10:55011200-55012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:55012000-55013800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:55012000-55014400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr10:55012200-55013600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:55012200-55014400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr10:55012600-55014600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr10:55012600-55016200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:55013200-55014400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr10:55013400-55014400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr10:55013400-55014600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr10:55013600-55013800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:55013800-55014600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:55013800-55016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:55014200-55018400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr10:55014400-55016000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:55014400-55016000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr10:55014400-55016200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr10:55014400-55016200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr10:55014600-55015800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:55014600-55016200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr10:55015200-55015600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:55015400-55017400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:55015800-55016800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:55015800-55017000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr10:55016000-55017000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:55016000-55017000	Enhancers	NHEK	skin
45	chr10:55016000-55017200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr10:55016000-55018000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:55016200-55016600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:55016200-55016800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr10:55016200-55016800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:55016200-55016800	Enhancers	H9 Cell Line	embryonic stem cell

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