Variant report

Variant	nsv550041
Chromosome Location	chr10:18671921-18686452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:18679368-18679983	IMR90	lung:	n/a	n/a
2	CEBPB	chr10:18683181-18683340	IMR90	lung:	n/a	n/a
3	CTCF	chr10:18675458-18675488	GM13977	blood:	n/a	n/a
4	CTCF	chr10:18674430-18674479	GM13977	blood:	n/a	n/a
5	CTCF	chr10:18676235-18676375	GM12878	blood:	n/a	n/a
6	CTCF	chr10:18676330-18676353	Pancreas_OC	pancreas:	n/a	n/a
7	EBF1	chr10:18677371-18677479	GM12878	blood:	n/a	chr10:18677391-18677401 chr10:18677392-18677401
8	FOS	chr10:18679669-18680030	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr10:18678250-18678447	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr10:18679667-18680046	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:18679682-18680027	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr10:18679684-18680026	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr10:18679690-18679840	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr10:18679133-18679357	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:18679178-18679348	MCF-7	breast:	n/a	n/a
16	POLR2A	chr10:18674434-18674527	MCF-7	breast:	n/a	n/a
17	POLR2A	chr10:18677711-18677734	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr10:18679857-18680037	MCF10A-Er-Src	breast:	n/a	chr10:18679886-18679897
19	STAT3	chr10:18679726-18680081	MCF10A-Er-Src	breast:	n/a	chr10:18679886-18679897
20	STAT3	chr10:18679728-18680040	MCF10A-Er-Src	breast:	n/a	chr10:18679886-18679897
21	STAT3	chr10:18672318-18672371	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr10:18679725-18680057	MCF10A-Er-Src	breast:	n/a	chr10:18679886-18679897
23	USF1	chr10:18685019-18685134	GM12878	blood:	n/a	n/a
24	ZNF263	chr10:18678108-18678448	HEK293-T-REx	kidney:	n/a	n/a
25	ZNF384	chr10:18676576-18676781	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:18679429-18679479	AG04449	skin:	fetal
2	chr10:18679429-18679479	U87	brain:	n/a
3	chr10:18679429-18679479	BE2_C	brain:	n/a
4	chr10:18679429-18679479	HRE	kidney:	n/a
5	chr10:18679429-18679479	BJ	skin:	n/a
6	chr10:18679429-18679479	SK-N-MC	brain:	n/a
7	chr10:18679429-18679479	Jurkat	blood:	n/a
8	chr10:18679429-18679479	HNPCEpiC	eye:	n/a
9	chr10:18679429-18679479	ECC-1	luminal epithelium:	n/a
10	chr10:18679429-18679479	MCF10A-Er-Src	breast:	n/a
11	chr10:18679429-18679479	HCM	heart:	n/a
12	chr10:18679429-18679479	HCPEpiC	choroid plexus:	n/a
13	chr10:18679429-18679479	T-47D	breast:	n/a
14	chr10:18679429-18679479	K562	blood:	n/a
15	chr10:18679429-18679479	HMEC	breast:	n/a
16	chr10:18679429-18679479	AoSMC	blood vessel:	n/a
17	chr10:18679429-18679479	HepG2	liver:	n/a
18	chr10:18679429-18679479	HRCEpiC	kidney:	n/a
19	chr10:18679429-18679479	HUVEC	blood vessel:	n/a
20	chr10:18679429-18679479	A549	lung:	n/a
21	chr10:18679429-18679479	MCF-7	breast:	n/a
22	chr10:18679429-18679479	CMK	blood:	n/a
23	chr10:18679429-18679479	AG09319	gingival:	n/a
24	chr10:18679429-18679479	HEK293	kidney:	embryo
25	chr10:18679429-18679479	NT2-D1	testis:	n/a
26	chr10:18679429-18679479	AG04450	lung:	fetal
27	chr10:18679429-18679479	HCT-116	colon:	n/a
28	chr10:18679429-18679479	IMR90	lung:	fetal
29	chr10:18679429-18679479	GM06990	blood:	n/a
30	chr10:18679429-18679479	NB4	blood:	n/a
31	chr10:18679429-18679479	HCF	heart:	n/a
32	chr10:18679429-18679479	SK-N-SH	brain:	n/a
33	chr10:18679429-18679479	SK-N-SH_RA	brain:	n/a
34	chr10:18679429-18679479	GM12892	blood:	n/a
35	chr10:18679429-18679479	HL-60	blood:	n/a
36	chr10:18679429-18679479	GM12878	blood:	n/a
37	chr10:18679429-18679479	Hepatocyte	liver:	n/a
38	chr10:18679429-18679479	ovcar-3	ovarian:	n/a
39	chr10:18679429-18679479	SAEC	small airway:	n/a
40	chr10:18679429-18679479	Caco-2	colon:	n/a
41	chr10:18679429-18679479	NHDF-neo	bronchial:	n/a
42	chr10:18679429-18679479	PrEC	prostate:	n/a
43	chr10:18679429-18679479	H1-hESC	embryonic stem cell:	embryo
44	chr10:18679429-18679479	ProgFib	skin:	n/a
45	chr10:18679429-18679479	AG09309	skin:	n/a
46	chr10:18679429-18679479	RPTEC	kidney:	n/a
47	chr10:18679429-18679479	HPAEpiC	pulmonary alveolar:	n/a
48	chr10:18679429-18679479	NH-A	brain:	n/a
49	chr10:18679429-18679479	AG10803	skin:	n/a
50	chr10:18679429-18679479	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
CACNB2	TF binding region
CACNB2	CpG island

Extended variants
information (count: 632 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17611556	chr10:18671921-18671922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139126432	chr10:18671938-18671939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4747344	chr10:18671971-18671972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs116621876	chr10:18671974-18671975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575234984	chr10:18672039-18672040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557866076	chr10:18672065-18672066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79271401	chr10:18672085-18672086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143982632	chr10:18672095-18672096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573360638	chr10:18672118-18672119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376387180	chr10:18672128-18672129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146892223	chr10:18672138-18672139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4748457	chr10:18672145-18672146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373570804	chr10:18672152-18672153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551343039	chr10:18672167-18672168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561338445	chr10:18672206-18672207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532457009	chr10:18672218-18672219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576323638	chr10:18672240-18672241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140718631	chr10:18672247-18672248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529730008	chr10:18672250-18672251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1409207	chr10:18672295-18672296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs375928912	chr10:18672303-18672304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552354866	chr10:18672318-18672319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552075205	chr10:18672335-18672336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371754562	chr10:18672370-18672371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570671216	chr10:18672371-18672372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537697769	chr10:18672419-18672420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76184557	chr10:18672420-18672421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575290434	chr10:18672430-18672431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575203143	chr10:18672434-18672435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150050791	chr10:18672495-18672496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554574329	chr10:18672528-18672529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573243651	chr10:18672537-18672538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186746921	chr10:18672548-18672549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565335220	chr10:18672565-18672566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374942424	chr10:18672568-18672569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577372743	chr10:18672574-18672575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112844448	chr10:18672580-18672581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544879300	chr10:18672605-18672606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565537615	chr10:18672607-18672608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563197459	chr10:18672631-18672632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76540484	chr10:18672645-18672646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530445331	chr10:18672649-18672650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398074982	chr10:18672652-18672653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200529307	chr10:18672653-18672654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149184362	chr10:18672677-18672678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534642969	chr10:18672737-18672738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527390367	chr10:18672758-18672759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201635267	chr10:18672796-18672797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113246508	chr10:18672808-18672809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552250076	chr10:18672825-18672826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18659400-18676000	Weak transcription	Right Ventricle	heart
2	chr10:18665200-18680400	Weak transcription	Fetal Stomach	stomach
3	chr10:18666400-18682400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:18667800-18672200	Weak transcription	Ovary	ovary
5	chr10:18668400-18684000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:18669000-18689400	Weak transcription	Left Ventricle	heart
7	chr10:18670200-18675600	Weak transcription	Fetal Heart	heart
8	chr10:18672200-18672400	Enhancers	Ovary	ovary
9	chr10:18672400-18672600	Weak transcription	Ovary	ovary
10	chr10:18673400-18673800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:18673800-18674600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:18675600-18678200	Enhancers	Fetal Heart	heart
13	chr10:18676000-18676400	Enhancers	Right Ventricle	heart
14	chr10:18676200-18676400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:18676200-18676400	Enhancers	Colon Smooth Muscle	Colon
16	chr10:18676200-18676400	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:18676400-18678000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:18676400-18679000	Weak transcription	Right Ventricle	heart
19	chr10:18676400-18679600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:18676400-18682600	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:18678000-18678400	Enhancers	Pancreas	Pancrea
22	chr10:18678000-18679400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:18678200-18681000	Weak transcription	Fetal Heart	heart
24	chr10:18679000-18680600	Enhancers	NHLF	lung
25	chr10:18679400-18689200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:18679600-18680400	Enhancers	Rectal Smooth Muscle	rectum
27	chr10:18679600-18680600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:18679800-18680200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:18680400-18683400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr10:18681000-18681400	Enhancers	Fetal Heart	heart
31	chr10:18681400-18683200	Weak transcription	Fetal Heart	heart
32	chr10:18682400-18682800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:18682600-18684200	Enhancers	Colon Smooth Muscle	Colon
34	chr10:18682800-18689000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:18683200-18684000	Enhancers	Brain Anterior Caudate	brain
36	chr10:18683200-18684800	Enhancers	Fetal Heart	heart
37	chr10:18683400-18684200	Enhancers	Rectal Smooth Muscle	rectum
38	chr10:18683600-18684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:18683600-18684200	Enhancers	Fetal Kidney	kidney
40	chr10:18684000-18684400	Enhancers	Stomach Smooth Muscle	stomach
41	chr10:18684000-18689000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:18684000-18689200	Weak transcription	Brain Anterior Caudate	brain
43	chr10:18684200-18689000	Weak transcription	Fetal Kidney	kidney
44	chr10:18684200-18689000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:18684400-18689200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:18684800-18686800	Weak transcription	Fetal Heart	heart
47	chr10:18686200-18687000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr10:18686400-18689000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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