Variant report

Variant	nsv1054093
Chromosome Location	chr10:42864101-42921654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr10:42876568-42876697	K562	blood:	n/a	n/a
2	CEBPB	chr10:42903832-42903893	IMR90	lung:	n/a	chr10:42903853-42903864
3	CEBPB	chr10:42886922-42886990	HepG2	liver:	n/a	chr10:42886933-42886944
4	CEBPB	chr10:42903805-42903926	HepG2	liver:	n/a	chr10:42903853-42903864
5	CEBPD	chr10:42876429-42876788	K562	blood:	n/a	n/a
6	CTCF	chr10:42866768-42866780	GM13976	blood:	n/a	n/a
7	CTCF	chr10:42910465-42910525	MCF-7	breast:	n/a	n/a
8	CTCF	chr10:42877032-42877125	GM13977	blood:	n/a	n/a
9	CTCF	chr10:42885484-42885503	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr10:42869883-42869979	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr10:42906656-42906711	GM13977	blood:	n/a	n/a
12	CTCF	chr10:42906695-42906729	GM13976	blood:	n/a	n/a
13	CTCF	chr10:42868376-42868430	LNCaP	prostate:	n/a	n/a
14	FOXA1	chr10:42876630-42876864	T-47D	breast:	n/a	n/a
15	FOXA1	chr10:42876659-42876892	T-47D	breast:	n/a	n/a
16	GATA2	chr10:42876417-42876780	K562	blood:	n/a	n/a
17	GATA3	chr10:42917078-42917789	SK-N-SH	brain:	n/a	chr10:42917612-42917622 chr10:42917384-42917391 chr10:42917408-42917415
18	GATA3	chr10:42917116-42917788	SK-N-SH	brain:	n/a	chr10:42917612-42917622 chr10:42917384-42917391 chr10:42917408-42917415
19	JUND	chr10:42917331-42917576	SK-N-SH	brain:	n/a	n/a
20	MAFF	chr10:42915403-42915421	HepG2	liver:	n/a	n/a
21	MAFK	chr10:42915399-42915483	HepG2	liver:	n/a	chr10:42915451-42915460 chr10:42915450-42915460
22	NFIC	chr10:42917168-42917696	SK-N-SH	brain:	n/a	n/a
23	NR2F2	chr10:42879609-42880021	K562	blood:	n/a	n/a
24	NR2F2	chr10:42876458-42876742	K562	blood:	n/a	n/a
25	NR3C1	chr10:42872966-42873143	ECC-1	luminal epithelium:	n/a	n/a
26	PAX5	chr10:42872960-42873154	GM12878	blood:	n/a	n/a
27	PBX3	chr10:42917174-42917660	SK-N-SH	brain:	n/a	n/a
28	PBX3	chr10:42917213-42917687	SK-N-SH	brain:	n/a	n/a
29	PML	chr10:42876423-42876747	K562	blood:	n/a	n/a
30	POLR2A	chr10:42914527-42914682	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:42913930-42913935	A549	lung:	n/a	n/a
32	POLR2A	chr10:42879765-42879856	K562	blood:	n/a	n/a
33	POLR2A	chr10:42876494-42876687	K562	blood:	n/a	n/a
34	POLR2A	chr10:42870380-42870432	A549	lung:	n/a	n/a
35	POLR2A	chr10:42913737-42913783	A549	lung:	n/a	n/a
36	REST	chr10:42876513-42876732	K562	blood:	n/a	n/a
37	REST	chr10:42876532-42876637	K562	blood:	n/a	n/a
38	STAT5A	chr10:42876434-42876781	K562	blood:	n/a	n/a
39	TAL1	chr10:42879690-42879874	K562	blood:	n/a	n/a
40	TAL1	chr10:42876404-42876796	K562	blood:	n/a	n/a
41	TCF12	chr10:42917149-42917716	SK-N-SH	brain:	n/a	chr10:42917234-42917243
42	TEAD4	chr10:42876356-42876799	K562	blood:	n/a	n/a
43	TEAD4	chr10:42879640-42879931	K562	blood:	n/a	n/a
44	TEAD4	chr10:42876400-42876800	K562	blood:	n/a	n/a
45	TEAD4	chr10:42879572-42880034	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42864633-42864683	HIPEpiC	eye:	n/a
2	chr10:42864912-42864962	HEK293	kidney:	embryo
3	chr10:42864633-42864683	GM19239	blood:	n/a
4	chr10:42864633-42864683	AG10803	skin:	n/a
5	chr10:42864912-42864962	PANC-1	pancreas:	n/a
6	chr10:42864912-42864962	T-47D	breast:	n/a
7	chr10:42864912-42864962	CMK	blood:	n/a
8	chr10:42864633-42864683	HRPEpiC	eye:	n/a
9	chr10:42864633-42864683	Hepatocyte	liver:	n/a
10	chr10:42864633-42864683	Jurkat	blood:	n/a
11	chr10:42864633-42864683	HMEC	breast:	n/a
12	chr10:42864633-42864683	GM12891	blood:	n/a
13	chr10:42864912-42864962	PFSK-1	brain:	n/a
14	chr10:42864633-42864683	NHDF-neo	bronchial:	n/a
15	chr10:42864633-42864683	AoSMC	blood vessel:	n/a
16	chr10:42864633-42864683	SK-N-MC	brain:	n/a
17	chr10:42864912-42864962	NT2-D1	testis:	n/a
18	chr10:42864912-42864962	HL-60	blood:	n/a
19	chr10:42864633-42864683	IMR90	lung:	fetal
20	chr10:42864912-42864962	SKMC	muscle:	n/a
21	chr10:42864912-42864962	SK-N-SH_RA	brain:	n/a
22	chr10:42864912-42864962	HCT-116	colon:	n/a
23	chr10:42864633-42864683	K562	blood:	n/a
24	chr10:42864912-42864962	MCF10A-Er-Src	breast:	n/a
25	chr10:42864633-42864683	HAEpiC	amniotic membrane:	n/a
26	chr10:42864633-42864683	HCPEpiC	choroid plexus:	n/a
27	chr10:42864912-42864962	IMR90	lung:	fetal
28	chr10:42864633-42864683	SK-N-SH_RA	brain:	n/a
29	chr10:42864912-42864962	HMEC	breast:	n/a
30	chr10:42864633-42864683	HCF	heart:	n/a
31	chr10:42864633-42864683	BE2_C	brain:	n/a
32	chr10:42864633-42864683	U87	brain:	n/a
33	chr10:42864912-42864962	U87	brain:	n/a
34	chr10:42864633-42864683	PrEC	prostate:	n/a
35	chr10:42864912-42864962	H1-hESC	embryonic stem cell:	embryo
36	chr10:42864912-42864962	HAEpiC	amniotic membrane:	n/a
37	chr10:42864912-42864962	Hepatocyte	liver:	n/a
38	chr10:42864633-42864683	T-47D	breast:	n/a
39	chr10:42864912-42864962	ovcar-3	ovarian:	n/a
40	chr10:42864633-42864683	Hela-S3	cervix:	n/a
41	chr10:42864912-42864962	MCF-7	breast:	n/a
42	chr10:42864912-42864962	Jurkat	blood:	n/a
43	chr10:42864633-42864683	HEK293	kidney:	embryo
44	chr10:42864633-42864683	NB4	blood:	n/a
45	chr10:42864912-42864962	PrEC	prostate:	n/a
46	chr10:42864633-42864683	A549	lung:	n/a
47	chr10:42864912-42864962	ProgFib	skin:	n/a
48	chr10:42864912-42864962	Caco-2	colon:	n/a
49	chr10:42864912-42864962	LNCaP	prostate:	n/a
50	chr10:42864912-42864962	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:42861377..42864864-chr10:42876467..42879026,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215146	TF binding region
ENSG00000215146	CpG island
ENSG00000215146	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2505803	chr10:42864101-42864102	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189390094	chr10:42864129-42864130	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548116751	chr10:42864133-42864134	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2489685	chr10:42864138-42864139	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs536895922	chr10:42864171-42864172	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560096608	chr10:42864184-42864185	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550378997	chr10:42864186-42864187	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181407983	chr10:42864189-42864190	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144204352	chr10:42864193-42864194	Enhancers Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538774398	chr10:42864246-42864247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558982942	chr10:42864299-42864300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146603221	chr10:42864396-42864397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528112710	chr10:42864912-42864913	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs9733646	chr10:42864913-42864914	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs561599489	chr10:42864914-42864915	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs181639982	chr10:42864915-42864916	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs143900264	chr10:42864931-42864932	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs570177307	chr10:42864935-42864936	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs547062571	chr10:42876222-42876223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560725651	chr10:42876256-42876257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192113404	chr10:42876277-42876278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183325830	chr10:42876292-42876293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370629362	chr10:42876307-42876308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538471200	chr10:42876326-42876327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375685244	chr10:42876327-42876328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34260048	chr10:42876328-42876329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398075101	chr10:42876341-42876342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60890389	chr10:42876342-42876343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552017467	chr10:42876367-42876368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184962530	chr10:42876374-42876375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571839156	chr10:42876408-42876409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534287889	chr10:42876411-42876412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374741133	chr10:42876415-42876416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11239275	chr10:42876432-42876433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111598518	chr10:42876479-42876480	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554194986	chr10:42876482-42876483	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77659461	chr10:42876489-42876490	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377020735	chr10:42876526-42876527	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189623272	chr10:42876545-42876546	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182309063	chr10:42876554-42876555	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556211213	chr10:42876566-42876567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575914844	chr10:42876582-42876583	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559292547	chr10:42876583-42876584	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186971551	chr10:42876608-42876609	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571863032	chr10:42876610-42876611	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540736309	chr10:42876625-42876626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561031049	chr10:42876626-42876627	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529705627	chr10:42876677-42876678	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543386022	chr10:42876776-42876777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs36089770	chr10:42876818-42876819	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	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
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Hirschsprung''s Disease	19925665	CNVD
Hirschsprung''s Disease	20456320	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42862000-42864200	Active TSS	Stomach Smooth Muscle	stomach
2	chr10:42862600-42864400	Active TSS	Brain Anterior Caudate	brain
3	chr10:42863600-42864200	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:42863600-42864200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:42864000-42864200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr10:42864000-42864200	ZNF genes & repeats	K562	blood
7	chr10:42876200-42876800	Enhancers	K562	blood
8	chr10:42877400-42877800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:42918200-42918600	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links