Variant report

Variant	nsv1037934
Chromosome Location	chr10:42866285-42928334
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	CCNT2	chr10:42876568-42876697	K562	blood:	n/a	n/a
2	CEBPB	chr10:42926554-42927004	A549	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
3	CEBPB	chr10:42926626-42926861	HepG2	liver:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
4	CEBPB	chr10:42903832-42903893	IMR90	lung:	n/a	chr10:42903853-42903864
5	CEBPB	chr10:42903805-42903926	HepG2	liver:	n/a	chr10:42903853-42903864
6	CEBPB	chr10:42926578-42926926	A549	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
7	CEBPB	chr10:42926600-42926883	H1-hESC	embryonic stem cell:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
8	CEBPB	chr10:42926636-42926923	MCF-7	breast:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
9	CEBPB	chr10:42926541-42926950	ECC-1	luminal epithelium:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
10	CEBPB	chr10:42926634-42926893	A549	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
11	CEBPB	chr10:42926569-42926928	HepG2	liver:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
12	CEBPB	chr10:42926578-42926940	MCF-7	breast:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
13	CEBPB	chr10:42926575-42926908	IMR90	lung:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
14	CEBPB	chr10:42886922-42886990	HepG2	liver:	n/a	chr10:42886933-42886944
15	CEBPB	chr10:42926558-42926930	K562	blood:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
16	CEBPB	chr10:42926615-42926811	HepG2	liver:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
17	CEBPB	chr10:42926607-42926907	Hela-S3	cervix:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
18	CEBPB	chr10:42926561-42926923	ECC-1	luminal epithelium:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
19	CEBPB	chr10:42926584-42926914	K562	blood:	n/a	chr10:42926737-42926750 chr10:42926737-42926748 chr10:42926738-42926749
20	CEBPD	chr10:42876429-42876788	K562	blood:	n/a	n/a
21	CTCF	chr10:42924080-42924230	AG09319	gingival:	n/a	n/a
22	CTCF	chr10:42924120-42924270	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr10:42877032-42877125	GM13977	blood:	n/a	n/a
24	CTCF	chr10:42924075-42924276	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr10:42924100-42924250	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr10:42924080-42924230	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr10:42924097-42924298	Gliobla	brain:	n/a	n/a
28	CTCF	chr10:42924100-42924250	BJ	skin:	n/a	n/a
29	CTCF	chr10:42924136-42924242	GM10266	blood:	n/a	n/a
30	CTCF	chr10:42924000-42924150	A549	lung:	n/a	n/a
31	CTCF	chr10:42924062-42924324	LNCaP	prostate:	n/a	n/a
32	CTCF	chr10:42924200-42924350	NHLF	lung:	n/a	n/a
33	CTCF	chr10:42924120-42924270	HepG2	liver:	n/a	n/a
34	CTCF	chr10:42924029-42924326	GM12878	blood:	n/a	n/a
35	CTCF	chr10:42924080-42924230	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr10:42910465-42910525	MCF-7	breast:	n/a	n/a
37	CTCF	chr10:42924140-42924290	HL-60	blood:	n/a	n/a
38	CTCF	chr10:42924100-42924250	HEK293	kidney:	n/a	n/a
39	CTCF	chr10:42923830-42924420	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr10:42924080-42924230	GM12874	blood:	n/a	n/a
41	CTCF	chr10:42923883-42924401	A549	lung:	n/a	n/a
42	CTCF	chr10:42924120-42924270	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr10:42885484-42885503	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr10:42924139-42924247	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr10:42924100-42924250	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr10:42924100-42924250	GM12878	blood:	n/a	n/a
47	CTCF	chr10:42924120-42924270	RPTEC	kidney:	n/a	n/a
48	CTCF	chr10:42924100-42924250	HPF	lung:	n/a	n/a
49	CTCF	chr10:42924120-42924270	AG10803	skin:	n/a	n/a
50	CTCF	chr10:42924160-42924310	GM06990	blood:	n/a	n/a

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

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

Extended variants
information (count: 155 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs547062571	chr10:42876222-42876223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560725651	chr10:42876256-42876257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192113404	chr10:42876277-42876278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183325830	chr10:42876292-42876293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370629362	chr10:42876307-42876308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538471200	chr10:42876326-42876327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375685244	chr10:42876327-42876328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34260048	chr10:42876328-42876329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398075101	chr10:42876341-42876342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60890389	chr10:42876342-42876343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552017467	chr10:42876367-42876368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184962530	chr10:42876374-42876375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571839156	chr10:42876408-42876409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534287889	chr10:42876411-42876412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374741133	chr10:42876415-42876416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11239275	chr10:42876432-42876433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111598518	chr10:42876479-42876480	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554194986	chr10:42876482-42876483	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77659461	chr10:42876489-42876490	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377020735	chr10:42876526-42876527	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189623272	chr10:42876545-42876546	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182309063	chr10:42876554-42876555	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556211213	chr10:42876566-42876567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575914844	chr10:42876582-42876583	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559292547	chr10:42876583-42876584	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186971551	chr10:42876608-42876609	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571863032	chr10:42876610-42876611	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540736309	chr10:42876625-42876626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561031049	chr10:42876626-42876627	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529705627	chr10:42876677-42876678	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543386022	chr10:42876776-42876777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36089770	chr10:42876818-42876819	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532063394	chr10:42876841-42876842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552054367	chr10:42876849-42876850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77724992	chr10:42876858-42876859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527875833	chr10:42876874-42876875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142026952	chr10:42876881-42876882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567727361	chr10:42876882-42876883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150889183	chr10:42876883-42876884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114317712	chr10:42876885-42876886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569689120	chr10:42876891-42876892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183496703	chr10:42876921-42876922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539335932	chr10:42876930-42876931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558935380	chr10:42876939-42876940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558390255	chr10:42876973-42876974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138271047	chr10:42877010-42877011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541220603	chr10:42877011-42877012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368841936	chr10:42877026-42877027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188440039	chr10:42877027-42877028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538190373	chr10:42877029-42877030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42876200-42876800	Enhancers	K562	blood
2	chr10:42877400-42877800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr10:42918200-42918600	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links