Variant report

Variant	nsv947622
Chromosome Location	chr10:56360404-56368476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:56365480-56365630	GM12864	blood:	n/a	n/a
2	EBF1	chr10:56367734-56368066	GM12878	blood:	n/a	chr10:56367900-56367913 chr10:56367901-56367912 chr10:56367902-56367911
3	FAM48A	chr10:56365261-56365409	GM12878	blood:	n/a	n/a
4	GATA2	chr10:56365914-56366691	HUVEC	blood vessel:	n/a	n/a
5	GATA3	chr10:56365251-56365446	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr10:56363804-56364057	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr10:56366654-56366782	SH-SY5Y	brain:	n/a	n/a
8	GTF2F1	chr10:56367699-56367761	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr10:56363067-56363187	HepG2	liver:	n/a	n/a
10	NANOG	chr10:56367842-56368152	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:56367505-56367732	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF7	chr10:56367422-56367828	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr10:56367598-56367937	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr10:56367788-56368093	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr10:56367798-56368054	H1-hESC	embryonic stem cell:	n/a	n/a
16	WRNIP1	chr10:56365458-56365710	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-4	chr10:56365452-56366745	NONHSAT013457
2	lnc-MTRNR2L5-4	chr10:56365452-56366745	ENSG00000234173.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548f-5p	chr10:56367686-56367707	MIMAT0026739
hsa-miR-548f-3p	chr10:56367649-56367667	MIMAT0005895

Variant related genes	Relation type
MIR548F1	TF binding region

Extended variants
information (count: 145 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558663443	chr10:56364703-56364704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115550159	chr10:56364722-56364723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561059586	chr10:56364753-56364754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529719967	chr10:56364802-56364803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538166713	chr10:56364805-56364806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556521034	chr10:56364850-56364851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7919891	chr10:56364858-56364859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559674611	chr10:56364879-56364880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532320115	chr10:56364957-56364958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573604078	chr10:56364971-56364972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552045269	chr10:56364974-56364975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183639378	chr10:56364989-56364990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531514478	chr10:56365003-56365004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542638783	chr10:56365006-56365007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548055030	chr10:56365007-56365008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567765396	chr10:56365021-56365022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7904980	chr10:56365053-56365054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76812710	chr10:56365069-56365070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566860689	chr10:56365113-56365114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188682273	chr10:56365116-56365117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146525712	chr10:56365118-56365119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575820114	chr10:56365123-56365124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544805157	chr10:56365160-56365161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192392530	chr10:56365178-56365179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371391966	chr10:56365202-56365203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78468683	chr10:56365203-56365204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184980657	chr10:56365268-56365269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188193338	chr10:56365288-56365289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75858916	chr10:56365337-56365338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79704786	chr10:56365338-56365339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76809271	chr10:56365379-56365380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1937412	chr10:56365380-56365381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371230817	chr10:56365525-56365526	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571945832	chr10:56365571-56365572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562826008	chr10:56365579-56365580	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs568314029	chr10:56365588-56365589	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs146993245	chr10:56365589-56365590	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs201290302	chr10:56365591-56365592	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs531474452	chr10:56365598-56365599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs548375751	chr10:56365652-56365653	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs191551648	chr10:56365690-56365691	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs184840918	chr10:56365745-56365746	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs547097432	chr10:56365768-56365769	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs116830246	chr10:56365801-56365802	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs139108339	chr10:56365803-56365804	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs375520150	chr10:56365865-56365866	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs189779011	chr10:56365887-56365888	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs114958154	chr10:56365939-56365940	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs538108771	chr10:56365945-56365946	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555191448	chr10:56365975-56365976	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56364600-56367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:56365600-56366800	Enhancers	HUVEC	blood vessel
3	chr10:56366800-56371200	Weak transcription	HUVEC	blood vessel
4	chr10:56367000-56367800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr10:56367200-56368400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:56367600-56368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:56367600-56368200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:56367600-56369200	Enhancers	HUES64 Cell Line	embryonic stem cell

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