Variant report

Variant	nsv520027
Chromosome Location	chr3:53762713-53784625
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	ARID3A	chr3:53763642-53764005	HepG2	liver:	n/a	n/a
2	ATF2	chr3:53766250-53766741	GM12878	blood:	n/a	n/a
3	ATF2	chr3:53782602-53783349	GM12878	blood:	n/a	n/a
4	BATF	chr3:53766290-53766604	GM12878	blood:	n/a	n/a
5	BATF	chr3:53778467-53778708	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:53782621-53782902	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr3:53782588-53783188	GM12878	blood:	n/a	chr3:53783056-53783065 chr3:53782970-53782979
8	BHLHE40	chr3:53782773-53783365	GM12878	blood:	n/a	n/a
9	BHLHE40	chr3:53766393-53766666	GM12878	blood:	n/a	n/a
10	BRCA1	chr3:53783713-53783775	GM12878	blood:	n/a	n/a
11	CEBPB	chr3:53765316-53765583	HepG2	liver:	n/a	chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765439-53765450
12	CEBPB	chr3:53780089-53780218	A549	lung:	n/a	chr3:53780124-53780135
13	CEBPB	chr3:53763817-53764049	HepG2	liver:	n/a	n/a
14	CEBPB	chr3:53779980-53780273	HepG2	liver:	n/a	chr3:53780124-53780135
15	CEBPB	chr3:53765340-53765514	H1-hESC	embryonic stem cell:	n/a	chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765439-53765450
16	CEBPB	chr3:53765321-53765602	A549	lung:	n/a	chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765439-53765450
17	CEBPB	chr3:53763217-53763481	HepG2	liver:	n/a	chr3:53763338-53763349
18	CEBPB	chr3:53765305-53765606	A549	lung:	n/a	chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765439-53765450
19	CEBPB	chr3:53765298-53765621	IMR90	lung:	n/a	chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765438-53765449 chr3:53765440-53765449 chr3:53765438-53765451 chr3:53765438-53765451 chr3:53765440-53765449 chr3:53765439-53765450
20	CEBPB	chr3:53780875-53781157	HepG2	liver:	n/a	n/a
21	CHD1	chr3:53782526-53782745	GM12878	blood:	n/a	n/a
22	CTCF	chr3:53778480-53778630	A549	lung:	n/a	n/a
23	CTCF	chr3:53778525-53778667	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:53763680-53763830	GM12865	blood:	n/a	n/a
25	CTCF	chr3:53778480-53778630	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr3:53763720-53763870	GM12868	blood:	n/a	n/a
27	CTCF	chr3:53778484-53778668	GM12891	blood:	n/a	n/a
28	CTCF	chr3:53771992-53772153	HepG2	liver:	n/a	chr3:53772113-53772131 chr3:53772116-53772129
29	CTCF	chr3:53763820-53763970	HPF	lung:	n/a	n/a
30	CTCF	chr3:53778438-53778706	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr3:53778480-53778630	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr3:53763795-53763870	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:53763760-53763910	GM12873	blood:	n/a	n/a
34	CTCF	chr3:53763800-53763950	Caco-2	colon:	n/a	n/a
35	CTCF	chr3:53763740-53763890	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr3:53763760-53763910	GM12878	blood:	n/a	n/a
37	CTCF	chr3:53763780-53763909	GM19240	blood:	n/a	n/a
38	CTCF	chr3:53763502-53763608	GM10266	blood:	n/a	n/a
39	CTCF	chr3:53772003-53772160	GM12878	blood:	n/a	chr3:53772113-53772131 chr3:53772116-53772129
40	CTCF	chr3:53763760-53763910	SAEC	small airway:	n/a	n/a
41	CTCF	chr3:53763840-53763990	NHEK	skin:	n/a	n/a
42	CTCF	chr3:53778520-53778670	GM12873	blood:	n/a	n/a
43	CTCF	chr3:53763762-53763873	GM12891	blood:	n/a	n/a
44	CTCF	chr3:53766344-53766412	GM19238	blood:	n/a	n/a
45	CTCF	chr3:53763780-53763930	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr3:53763480-53763630	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr3:53763800-53763950	HMEC	breast:	n/a	n/a
48	CTCF	chr3:53763834-53763856	Lung_OC	lung:	n/a	n/a
49	CTCF	chr3:53778560-53778710	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr3:53772022-53772197	MCF-7	breast:	n/a	chr3:53772113-53772131 chr3:53772116-53772129

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53781107-53781157	MCF10A-Er-Src	breast:	n/a
2	chr3:53781065-53781115	HL-60	blood:	n/a
3	chr3:53781107-53781157	MCF10A-Er-Src	breast:	n/a
4	chr3:53781065-53781115	HL-60	blood:	n/a
5	chr3:53782863-53782913	HMEC	breast:	n/a
6	chr3:53764604-53764654	ProgFib	skin:	n/a
7	chr3:53781065-53781115	HAEpiC	amniotic membrane:	n/a
8	chr3:53781107-53781157	ProgFib	skin:	n/a
9	chr3:53782863-53782913	HRPEpiC	eye:	n/a
10	chr3:53781065-53781115	HCM	heart:	n/a
11	chr3:53781107-53781157	SAEC	small airway:	n/a
12	chr3:53781107-53781157	Hela-S3	cervix:	n/a
13	chr3:53781065-53781115	SAEC	small airway:	n/a
14	chr3:53782863-53782913	ECC-1	luminal epithelium:	n/a
15	chr3:53764401-53764451	NHBE	bronchial:	n/a
16	chr3:53781065-53781115	HRE	kidney:	n/a
17	chr3:53781065-53781115	AoSMC	blood vessel:	n/a
18	chr3:53764604-53764654	NT2-D1	testis:	n/a
19	chr3:53781107-53781157	HNPCEpiC	eye:	n/a
20	chr3:53782863-53782913	CMK	blood:	n/a
21	chr3:53781065-53781115	RPTEC	kidney:	n/a
22	chr3:53781065-53781115	NB4	blood:	n/a
23	chr3:53764401-53764451	GM19239	blood:	n/a
24	chr3:53781065-53781115	Jurkat	blood:	n/a
25	chr3:53781065-53781115	IMR90	lung:	fetal
26	chr3:53781107-53781157	HepG2	liver:	n/a
27	chr3:53764401-53764451	HNPCEpiC	eye:	n/a
28	chr3:53764604-53764654	AG04449	skin:	fetal
29	chr3:53764401-53764451	SK-N-SH_RA	brain:	n/a
30	chr3:53764401-53764451	ECC-1	luminal epithelium:	n/a
31	chr3:53764604-53764654	T-47D	breast:	n/a
32	chr3:53781107-53781157	HRCEpiC	kidney:	n/a
33	chr3:53764604-53764654	HRE	kidney:	n/a
34	chr3:53764401-53764451	U87	brain:	n/a
35	chr3:53782863-53782913	MCF-7	breast:	n/a
36	chr3:53781107-53781157	HEEpiC	esophagus:	n/a
37	chr3:53781107-53781157	SKMC	muscle:	n/a
38	chr3:53764604-53764654	GM06990	blood:	n/a
39	chr3:53781107-53781157	NHBE	bronchial:	n/a
40	chr3:53764604-53764654	BJ	skin:	n/a
41	chr3:53764401-53764451	IMR90	lung:	fetal
42	chr3:53764604-53764654	SKMC	muscle:	n/a
43	chr3:53764401-53764451	HRCEpiC	kidney:	n/a
44	chr3:53764604-53764654	NH-A	brain:	n/a
45	chr3:53782863-53782913	SK-N-SH_RA	brain:	n/a
46	chr3:53764401-53764451	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:53781107-53781157	AG04449	skin:	fetal
48	chr3:53764401-53764451	ovcar-3	ovarian:	n/a
49	chr3:53764604-53764654	PANC-1	pancreas:	n/a
50	chr3:53781065-53781115	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:53758884..53760805-chr3:53761482..53763140,2	MCF-7	breast:
2	chr3:53763032..53764866-chr3:53879026..53880653,2	MCF-7	breast:
3	chr3:53764419..53766196-chr3:53767205..53769405,2	MCF-7	breast:
4	chr3:53777857..53780018-chr3:53784994..53786883,2	K562	blood:
5	chr3:53763487..53764052-chr3:53807744..53808528,2	MCF-7	breast:
6	chr3:53764419..53766196-chr3:53767205..53769405,2	MCF-7	breast:
7	chr3:53764321..53765834-chr3:53878970..53881230,2	MCF-7	breast:

Variant related genes	Relation type
CACNA1D	TF binding region
CACNA1D	CpG island
ENSG00000056736	chromatin interactions
ENSG00000016391	chromatin interactions

Extended variants
information (count: 968 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1020819	chr3:53762713-53762714	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145486919	chr3:53762727-53762728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34683942	chr3:53762729-53762730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142545056	chr3:53762742-53762743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3774552	chr3:53762792-53762793	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146847072	chr3:53762797-53762798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190029910	chr3:53762818-53762819	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370576141	chr3:53762838-53762839	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369434859	chr3:53762944-53762945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534774031	chr3:53762958-53762959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115402599	chr3:53762963-53762964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569896148	chr3:53762996-53762997	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182707165	chr3:53763020-53763021	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538843847	chr3:53763030-53763031	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557217692	chr3:53763114-53763115	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187347060	chr3:53763124-53763125	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546012643	chr3:53763163-53763164	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559659755	chr3:53763173-53763174	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558740474	chr3:53763205-53763206	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs79155145	chr3:53763223-53763224	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs73840933	chr3:53763281-53763282	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530554944	chr3:53763305-53763306	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572268423	chr3:53763320-53763321	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372818261	chr3:53763326-53763327	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374843096	chr3:53763336-53763337	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541170051	chr3:53763367-53763368	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563550483	chr3:53763378-53763379	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532420015	chr3:53763395-53763396	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375859291	chr3:53763419-53763420	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552364717	chr3:53763472-53763473	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565696286	chr3:53763479-53763480	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552307355	chr3:53763489-53763490	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535167442	chr3:53763490-53763491	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368957935	chr3:53763509-53763510	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568150761	chr3:53763530-53763531	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372450387	chr3:53763534-53763535	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570649909	chr3:53763614-53763615	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191427968	chr3:53763679-53763680	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577137611	chr3:53763697-53763698	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539705909	chr3:53763734-53763735	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375545790	chr3:53763741-53763742	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531581079	chr3:53763752-53763753	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143347700	chr3:53763760-53763761	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116639394	chr3:53763761-53763762	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529620853	chr3:53763765-53763766	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574509766	chr3:53763820-53763821	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543463457	chr3:53763935-53763936	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148091537	chr3:53763952-53763953	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141826538	chr3:53764014-53764015	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545731141	chr3:53764038-53764039	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53740200-53764400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:53742600-53778000	Weak transcription	Pancreas	Pancrea
3	chr3:53744200-53764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:53744400-53763800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:53745200-53762800	Strong transcription	Fetal Intestine Large	intestine
6	chr3:53753600-53766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:53754200-53763600	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:53755200-53764400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:53755600-53764400	Weak transcription	Brain Anterior Caudate	brain
10	chr3:53756600-53763800	Strong transcription	Fetal Lung	lung
11	chr3:53756800-53763400	Weak transcription	Fetal Brain Male	brain
12	chr3:53758000-53763000	Weak transcription	Liver	Liver
13	chr3:53759400-53764400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:53761200-53764600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:53761600-53762800	Weak transcription	Fetal Intestine Small	intestine
16	chr3:53761600-53764400	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:53761600-53766200	Weak transcription	Lung	lung
18	chr3:53761600-53781800	Weak transcription	Spleen	Spleen
19	chr3:53761800-53765400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:53761800-53766000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:53762400-53765400	Enhancers	NHDF-Ad	bronchial
22	chr3:53762600-53764000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:53762600-53765200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:53762800-53763000	Weak transcription	Fetal Intestine Large	intestine
25	chr3:53762800-53763200	Enhancers	Fetal Kidney	kidney
26	chr3:53762800-53763600	Enhancers	Fetal Intestine Small	intestine
27	chr3:53763000-53763600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:53763000-53763600	Enhancers	Fetal Intestine Large	intestine
29	chr3:53763000-53764000	Enhancers	HepG2	liver
30	chr3:53763000-53764200	Enhancers	Liver	Liver
31	chr3:53763000-53764400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:53763000-53765600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:53763200-53764400	Weak transcription	Fetal Kidney	kidney
34	chr3:53763200-53765200	Enhancers	Fetal Heart	heart
35	chr3:53763400-53763600	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:53763400-53765000	Enhancers	Fetal Brain Male	brain
37	chr3:53763400-53765000	Enhancers	Fetal Muscle Leg	muscle
38	chr3:53763600-53763800	Enhancers	Brain Hippocampus Middle	brain
39	chr3:53763600-53764400	Weak transcription	Fetal Intestine Small	intestine
40	chr3:53763600-53764600	Weak transcription	Fetal Intestine Large	intestine
41	chr3:53763800-53764200	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:53763800-53764200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:53763800-53764800	Genic enhancers	Fetal Lung	lung
44	chr3:53764000-53764800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:53764200-53764400	Enhancers	Brain Hippocampus Middle	brain
46	chr3:53764200-53764600	Active TSS	Brain Substantia Nigra	brain
47	chr3:53764200-53764800	Enhancers	Fetal Muscle Trunk	muscle
48	chr3:53764200-53765000	Enhancers	Ovary	ovary
49	chr3:53764200-53766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:53764200-53766000	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links