Variant report

Variant	esv10649
Chromosome Location	chr2:47429316-47472670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:804)
CpG islands
(count:305)
Chromatin interactive
region (count:103)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:47464579-47465252	K562	blood:	n/a	n/a
2	ARID3A	chr2:47454686-47454961	K562	blood:	n/a	n/a
3	ARID3A	chr2:47436112-47436371	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:47451201-47451353	K562	blood:	n/a	n/a
5	ARID3A	chr2:47460109-47460460	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:47453355-47454215	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:47464153-47464187	K562	blood:	n/a	n/a
8	ARID3A	chr2:47436107-47436484	K562	blood:	n/a	n/a
9	ARID3A	chr2:47452172-47452962	HepG2	liver:	n/a	n/a
10	ATF1	chr2:47436151-47436412	K562	blood:	n/a	n/a
11	ATF1	chr2:47451165-47451409	K562	blood:	n/a	n/a
12	ATF2	chr2:47466281-47466783	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr2:47443119-47443324	HepG2	liver:	n/a	n/a
14	BACH1	chr2:47465120-47465158	K562	blood:	n/a	n/a
15	BACH1	chr2:47436469-47436587	K562	blood:	n/a	n/a
16	BATF	chr2:47465214-47465509	GM12878	blood:	n/a	n/a
17	BATF	chr2:47465203-47465528	GM12878	blood:	n/a	n/a
18	BCL3	chr2:47465190-47465577	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:47432659-47432900	K562	blood:	n/a	n/a
20	BHLHE40	chr2:47454692-47454885	K562	blood:	n/a	n/a
21	BHLHE40	chr2:47453398-47453689	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:47453225-47453657	K562	blood:	n/a	n/a
23	BHLHE40	chr2:47464559-47465182	K562	blood:	n/a	n/a
24	BHLHE40	chr2:47452675-47452967	K562	blood:	n/a	chr2:47452700-47452716
25	BHLHE40	chr2:47452298-47453165	HepG2	liver:	n/a	chr2:47452700-47452716
26	BHLHE40	chr2:47460250-47460415	K562	blood:	n/a	n/a
27	BRCA1	chr2:47443258-47443287	HepG2	liver:	n/a	n/a
28	BRCA1	chr2:47436072-47436527	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr2:47452493-47452916	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr2:47431942-47432311	K562	blood:	n/a	n/a
31	CBX3	chr2:47434763-47435084	K562	blood:	n/a	n/a
32	CBX3	chr2:47464401-47465317	K562	blood:	n/a	n/a
33	CBX3	chr2:47434790-47435130	K562	blood:	n/a	n/a
34	CCNT2	chr2:47446165-47446414	K562	blood:	n/a	n/a
35	CCNT2	chr2:47464637-47465003	K562	blood:	n/a	chr2:47464810-47464830
36	CCNT2	chr2:47453331-47453790	K562	blood:	n/a	n/a
37	CCNT2	chr2:47432465-47432991	K562	blood:	n/a	n/a
38	CEBPB	chr2:47465140-47465281	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr2:47444515-47444803	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:47430254-47430506	K562	blood:	n/a	chr2:47430378-47430389
41	CEBPB	chr2:47442994-47443497	MCF-7	breast:	n/a	chr2:47443216-47443227
42	CEBPB	chr2:47452407-47452968	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr2:47436099-47436337	K562	blood:	n/a	chr2:47436189-47436200
44	CEBPB	chr2:47447081-47447440	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:47452362-47453068	A549	lung:	n/a	n/a
46	CEBPB	chr2:47436029-47436385	HepG2	liver:	n/a	chr2:47436189-47436200
47	CEBPB	chr2:47466603-47466700	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr2:47435993-47436376	K562	blood:	n/a	chr2:47436189-47436200
49	CEBPB	chr2:47447208-47447354	A549	lung:	n/a	n/a
50	CEBPB	chr2:47443039-47443397	HepG2	liver:	n/a	chr2:47443216-47443227

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47463763-47463813	HL-60	blood:	n/a
2	chr2:47463763-47463813	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:47433265-47433315	U87	brain:	n/a
4	chr2:47433265-47433315	HNPCEpiC	eye:	n/a
5	chr2:47463763-47463813	SK-N-MC	brain:	n/a
6	chr2:47433265-47433315	HepG2	liver:	n/a
7	chr2:47433265-47433315	MCF10A-Er-Src	breast:	n/a
8	chr2:47465189-47465239	BE2_C	brain:	n/a
9	chr2:47463763-47463813	AG10803	skin:	n/a
10	chr2:47463763-47463813	IMR90	lung:	fetal
11	chr2:47463763-47463813	AG09319	gingival:	n/a
12	chr2:47463763-47463813	HepG2	liver:	n/a
13	chr2:47465189-47465239	SK-N-SH	brain:	n/a
14	chr2:47452985-47453035	BE2_C	brain:	n/a
15	chr2:47467779-47467829	PFSK-1	brain:	n/a
16	chr2:47452985-47453035	AG04450	lung:	fetal
17	chr2:47463763-47463813	HUVEC	blood vessel:	n/a
18	chr2:47433265-47433315	AG09309	skin:	n/a
19	chr2:47467779-47467829	BE2_C	brain:	n/a
20	chr2:47452985-47453035	SK-N-SH	brain:	n/a
21	chr2:47452985-47453035	HCF	heart:	n/a
22	chr2:47452985-47453035	GM19239	blood:	n/a
23	chr2:47433265-47433315	PANC-1	pancreas:	n/a
24	chr2:47433265-47433315	IMR90	lung:	fetal
25	chr2:47452985-47453035	SK-N-SH_RA	brain:	n/a
26	chr2:47467779-47467829	ECC-1	luminal epithelium:	n/a
27	chr2:47452985-47453035	NHDF-neo	bronchial:	n/a
28	chr2:47452985-47453035	AoSMC	blood vessel:	n/a
29	chr2:47467779-47467829	Jurkat	blood:	n/a
30	chr2:47452985-47453035	CMK	blood:	n/a
31	chr2:47467779-47467829	AG04449	skin:	fetal
32	chr2:47467779-47467829	SK-N-SH	brain:	n/a
33	chr2:47452985-47453035	MCF10A-Er-Src	breast:	n/a
34	chr2:47452985-47453035	HMEC	breast:	n/a
35	chr2:47433265-47433315	BE2_C	brain:	n/a
36	chr2:47467779-47467829	HEEpiC	esophagus:	n/a
37	chr2:47433265-47433315	AoSMC	blood vessel:	n/a
38	chr2:47452985-47453035	HCM	heart:	n/a
39	chr2:47467779-47467829	GM06990	blood:	n/a
40	chr2:47467779-47467829	GM12892	blood:	n/a
41	chr2:47433265-47433315	ProgFib	skin:	n/a
42	chr2:47465189-47465239	T-47D	breast:	n/a
43	chr2:47465189-47465239	HRCEpiC	kidney:	n/a
44	chr2:47452985-47453035	SK-N-MC	brain:	n/a
45	chr2:47465189-47465239	HNPCEpiC	eye:	n/a
46	chr2:47452985-47453035	SKMC	muscle:	n/a
47	chr2:47463763-47463813	HMEC	breast:	n/a
48	chr2:47465189-47465239	RPTEC	kidney:	n/a
49	chr2:47463763-47463813	Hela-S3	cervix:	n/a
50	chr2:47452985-47453035	GM12892	blood:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:47399080..47400641-chr2:47457682..47460139,2	K562	blood:
2	chr2:47457105..47460333-chr2:47461555..47466109,6	K562	blood:
3	chr2:47467890..47470603-chr2:47472070..47473663,2	K562	blood:
4	chr2:47453237..47456247-chr2:47461766..47463655,3	K562	blood:
5	chr2:47425154..47427891-chr2:47430423..47432698,2	K562	blood:
6	chr2:47452506..47455221-chr2:47456148..47458002,2	K562	blood:
7	chr2:47450042..47452844-chr2:47571562..47573553,2	MCF-7	breast:
8	chr2:47442644..47445166-chr2:47495179..47497867,2	MCF-7	breast:
9	chr2:47456898..47459484-chr2:47461746..47464309,2	MCF-7	breast:
10	chr2:47419054..47421254-chr2:47460035..47461567,2	MCF-7	breast:
11	chr2:47467890..47470603-chr2:47472070..47473663,2	K562	blood:
12	chr2:47429443..47431361-chr2:47434372..47436330,2	K562	blood:
13	chr2:47448703..47450550-chr2:47457883..47459874,2	K562	blood:
14	chr2:47465412..47469681-chr2:47474773..47478680,4	MCF-7	breast:
15	chr2:47403488..47405225-chr2:47463748..47466355,2	MCF-7	breast:
16	chr2:47426496..47428273-chr2:47465952..47467998,2	MCF-7	breast:
17	chr2:47426377..47428396-chr2:47434799..47437160,2	K562	blood:
18	chr2:47471172..47473317-chr2:47476209..47479649,3	MCF-7	breast:
19	chr2:47436954..47438640-chr2:47446066..47448832,2	MCF-7	breast:
20	chr2:47433190..47433692-chr2:208994565..208995065,2	MCF-7	breast:
21	chr2:47431418..47435182-chr2:47440517..47443533,3	MCF-7	breast:
22	chr2:47461467..47463550-chr2:47492800..47495403,2	MCF-7	breast:
23	chr2:47448703..47450550-chr2:47457883..47459874,2	K562	blood:
24	chr2:47460998..47463733-chr2:47465502..47467724,2	K562	blood:
25	chr2:47434249..47437300-chr2:47437596..47440193,3	K562	blood:
26	chr2:47451738..47453292-chr2:47464630..47466427,2	K562	blood:
27	chr2:47423169..47425083-chr2:47433358..47436246,2	K562	blood:
28	chr2:47468738..47470603-chr2:47472163..47473920,2	K562	blood:
29	chr2:47451335..47453658-chr2:47453697..47456326,2	MCF-7	breast:
30	chr2:47447257..47450209-chr2:47450575..47452374,2	K562	blood:
31	chr2:47402441..47405401-chr2:47458332..47462423,3	MCF-7	breast:
32	chr2:47457584..47460333-chr2:47462013..47466109,5	K562	blood:
33	chr2:47399756..47406251-chr2:47447036..47455846,12	MCF-7	breast:
34	chr2:47406207..47408675-chr2:47468954..47471024,2	MCF-7	breast:
35	chr2:47452551..47455346-chr2:47461012..47462648,2	MCF-7	breast:
36	chr2:47465431..47466946-chr2:47471945..47474400,2	MCF-7	breast:
37	chr2:47392985..47395807-chr2:47465874..47467889,2	K562	blood:
38	chr2:47450260..47451975-chr2:47459520..47461671,2	MCF-7	breast:
39	chr2:47428218..47430266-chr2:47464257..47466484,2	K562	blood:
40	chr2:47399705..47405092-chr2:47450546..47458227,19	K562	blood:
41	chr2:47452155..47456845-chr2:47457854..47461355,4	K562	blood:
42	chr2:47400618..47404473-chr2:47439602..47444709,5	K562	blood:
43	chr2:47464125..47466702-chr2:47468051..47470081,2	K562	blood:
44	chr2:47415299..47416883-chr2:47462626..47464477,2	MCF-7	breast:
45	chr2:47401550..47405628-chr2:47444779..47447737,6	K562	blood:
46	chr2:47445836..47447608-chr2:47451153..47453104,2	K562	blood:
47	chr2:47470923..47472843-chr2:47474317..47476845,2	K562	blood:
48	chr2:47462905..47465893-chr2:47474409..47477265,3	MCF-7	breast:
49	chr2:47399058..47406701-chr2:47458639..47471254,30	K562	blood:
50	chr2:47464125..47466702-chr2:47468051..47470081,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPCAM-2	chr2:47452932-47453018	NONHSAT070553
2	lnc-EPCAM-5	chr2:47445239-47448487	NONHSAT070552
3	lnc-CALM2-2	chr2:47441088-47442398	NR_110207
4	lnc-EPCAM-2	chr2:47454056-47454153	XLOC_001462
5	lnc-EPCAM-2	chr2:47465871-47467523	NONHSAT070553
6	lnc-CALM2-2	chr2:47447948-47448462	NR_110207
7	lnc-EPCAM-2	chr2:47465872-47466364	XLOC_001462
8	lnc-EPCAM-2	chr2:47454055-47454153	NONHSAT070553
9	lnc-CALM2-2	chr2:47447948-47448462	ENSG00000234690
10	lnc-CALM2-2	chr2:47441088-47442398	ENSG00000234690
11	lnc-EPCAM-2	chr2:47465872-47466346	XLOC_001462
12	lnc-EPCAM-2	chr2:47452933-47453018	XLOC_001462

No data

Variant related genes	Relation type
ENSG00000226087	TF binding region
ENSG00000226087	CpG island
ENSG00000138326	chromatin interactions
ENSG00000226087	chromatin interactions
ENSG00000234690	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000119888	chromatin interactions
BAMBI	miRNA target sites
KLHL15	miRNA target sites
NAA16	miRNA target sites
FBXO34	miRNA target sites

Extended variants
information (count: 1936 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35871891	chr2:47429339-47429340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550819651	chr2:47429359-47429360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569193387	chr2:47429379-47429380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553753695	chr2:47429398-47429399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111862033	chr2:47429418-47429419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138583299	chr2:47429454-47429455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185009890	chr2:47429456-47429457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533986442	chr2:47429509-47429510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189637252	chr2:47429555-47429556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192852924	chr2:47429577-47429578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576206809	chr2:47429579-47429580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13009948	chr2:47429591-47429592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12986669	chr2:47429592-47429593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538172930	chr2:47429600-47429601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540938708	chr2:47429602-47429603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62141700	chr2:47429610-47429611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545805811	chr2:47429697-47429698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557744868	chr2:47429701-47429702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28846712	chr2:47429726-47429727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572976295	chr2:47429731-47429732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs70940667	chr2:47429741-47429742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201592260	chr2:47429742-47429743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540301283	chr2:47429743-47429744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397984488	chr2:47429751-47429752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561748162	chr2:47429773-47429774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376500933	chr2:47429794-47429795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529067788	chr2:47429868-47429869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544205379	chr2:47429891-47429892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184359510	chr2:47429937-47429938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373289202	chr2:47429954-47429955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551373110	chr2:47430024-47430025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566483973	chr2:47430035-47430036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527803756	chr2:47430045-47430046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549033952	chr2:47430047-47430048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567798266	chr2:47430062-47430063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538413151	chr2:47430093-47430094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188121170	chr2:47430108-47430109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149278975	chr2:47430215-47430216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72879013	chr2:47430237-47430238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144487585	chr2:47430278-47430279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182052094	chr2:47430409-47430410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540361703	chr2:47430420-47430421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555416170	chr2:47430424-47430425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573797472	chr2:47430425-47430426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543525686	chr2:47430475-47430476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531932750	chr2:47430530-47430531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186427785	chr2:47430538-47430539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533063338	chr2:47430554-47430555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1723487	chr2:47430576-47430577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs189183733	chr2:47430597-47430598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47421400-47432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:47421400-47432800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47421600-47432600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:47422200-47432800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:47423200-47432400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:47423800-47431400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47426000-47429400	Enhancers	NHDF-Ad	bronchial
8	chr2:47426600-47431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:47426800-47429400	Enhancers	Osteobl	bone
10	chr2:47426800-47432400	Weak transcription	Lung	lung
11	chr2:47427000-47435200	Weak transcription	Hela-S3	cervix
12	chr2:47427000-47435800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:47427400-47430800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:47427400-47433400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:47428400-47430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:47428400-47431800	Weak transcription	K562	blood
17	chr2:47428400-47437800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:47428800-47430200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:47428800-47430400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:47428800-47430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:47428800-47432400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:47428800-47432400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:47428800-47432400	Weak transcription	Ovary	ovary
24	chr2:47428800-47432400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:47428800-47432600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:47428800-47432600	Weak transcription	HSMM	muscle
27	chr2:47428800-47432600	Weak transcription	NH-A	brain
28	chr2:47428800-47441000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:47428800-47442000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:47429000-47430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:47429000-47430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:47429000-47431200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:47429000-47432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:47429000-47432400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:47429000-47432600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:47429000-47432600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:47429000-47433000	Weak transcription	A549	lung
38	chr2:47429000-47438400	Weak transcription	Brain Anterior Caudate	brain
39	chr2:47429200-47432800	Weak transcription	NHLF	lung
40	chr2:47429200-47435800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:47429400-47432200	Weak transcription	Osteobl	bone
42	chr2:47430000-47431000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:47430200-47430800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:47430400-47431400	Enhancers	Brain Angular Gyrus	brain
45	chr2:47430800-47431000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:47430800-47431400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:47430800-47431400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:47430800-47435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:47431000-47431200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:47431000-47432200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links