Variant report

Variant	nsv582024
Chromosome Location	chr2:54894649-54999712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2306)
CpG islands
(count:1771)
Chromatin interactive
region (count:79)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2306 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54997596-54997624	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54896543-54897604	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54951797-54951811	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54899078-54899253	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:54918866-54919174	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:54895937-54896067	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:54931865-54932270	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:54950353-54950865	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:54983262-54983378	K562	blood:	n/a	n/a
10	ARID3A	chr2:54967502-54967800	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:54931918-54932357	K562	blood:	n/a	n/a
12	ARID3A	chr2:54933807-54934154	HepG2	liver:	n/a	n/a
13	ATF1	chr2:54950263-54950890	K562	blood:	n/a	chr2:54950797-54950811
14	ATF1	chr2:54998335-54998536	K562	blood:	n/a	n/a
15	ATF2	chr2:54907422-54908341	GM12878	blood:	n/a	n/a
16	ATF2	chr2:54904944-54905533	GM12878	blood:	n/a	n/a
17	ATF2	chr2:54907498-54908360	GM12878	blood:	n/a	n/a
18	ATF2	chr2:54899980-54900910	GM12878	blood:	n/a	n/a
19	ATF2	chr2:54950303-54950806	GM12878	blood:	n/a	n/a
20	ATF2	chr2:54900036-54900576	GM12878	blood:	n/a	n/a
21	ATF2	chr2:54904856-54905639	GM12878	blood:	n/a	n/a
22	ATF2	chr2:54982799-54983251	GM12878	blood:	n/a	n/a
23	ATF2	chr2:54995033-54995505	GM12878	blood:	n/a	n/a
24	ATF3	chr2:54950357-54950797	K562	blood:	n/a	chr2:54950531-54950540
25	BACH1	chr2:54950247-54951369	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr2:54952155-54952492	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr2:54936383-54936397	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr2:54935701-54936020	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr2:54905042-54905266	GM12878	blood:	n/a	n/a
30	BATF	chr2:54900076-54900411	GM12878	blood:	n/a	n/a
31	BATF	chr2:54907506-54907854	GM12878	blood:	n/a	n/a
32	BATF	chr2:54984753-54985074	GM12878	blood:	n/a	n/a
33	BATF	chr2:54900143-54900428	GM12878	blood:	n/a	n/a
34	BATF	chr2:54907522-54908261	GM12878	blood:	n/a	n/a
35	BATF	chr2:54904970-54905518	GM12878	blood:	n/a	n/a
36	BCL11A	chr2:54900118-54900449	GM12878	blood:	n/a	chr2:54900264-54900273
37	BCL11A	chr2:54900038-54900506	GM12878	blood:	n/a	chr2:54900264-54900273
38	BCL11A	chr2:54907540-54908198	GM12878	blood:	n/a	n/a
39	BCL11A	chr2:54907542-54908186	GM12878	blood:	n/a	n/a
40	BCL3	chr2:54900520-54900988	GM12878	blood:	n/a	chr2:54900604-54900611 chr2:54900977-54900986
41	BCL3	chr2:54998277-54998541	GM12878	blood:	n/a	n/a
42	BCL3	chr2:54899979-54900476	GM12878	blood:	n/a	chr2:54900264-54900273
43	BCL3	chr2:54904992-54905409	GM12878	blood:	n/a	chr2:54905183-54905192
44	BCL3	chr2:54907526-54908028	GM12878	blood:	n/a	n/a
45	BCL3	chr2:54949809-54951114	A549	lung:	n/a	n/a
46	BCLAF1	chr2:54900022-54900520	GM12878	blood:	n/a	chr2:54900264-54900273
47	BCLAF1	chr2:54907505-54908089	GM12878	blood:	n/a	n/a
48	BCLAF1	chr2:54950286-54950810	GM12878	blood:	n/a	n/a
49	BCLAF1	chr2:54907513-54908089	GM12878	blood:	n/a	n/a
50	BCLAF1	chr2:54900633-54900996	GM12878	blood:	n/a	chr2:54900977-54900986

(count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54950679-54950729	RPTEC	kidney:	n/a
2	chr2:54950485-54950535	AoSMC	blood vessel:	n/a
3	chr2:54950679-54950729	RPTEC	kidney:	n/a
4	chr2:54950485-54950535	AoSMC	blood vessel:	n/a
5	chr2:54901055-54901105	T-47D	breast:	n/a
6	chr2:54950960-54951010	Jurkat	blood:	n/a
7	chr2:54900343-54900393	GM12878	blood:	n/a
8	chr2:54900998-54901048	HRPEpiC	eye:	n/a
9	chr2:54950485-54950535	T-47D	breast:	n/a
10	chr2:54903054-54903104	GM12878	blood:	n/a
11	chr2:54900910-54900960	Caco-2	colon:	n/a
12	chr2:54952487-54952537	HCM	heart:	n/a
13	chr2:54950485-54950535	SKMC	muscle:	n/a
14	chr2:54898349-54898399	NH-A	brain:	n/a
15	chr2:54950960-54951010	HepG2	liver:	n/a
16	chr2:54952078-54952128	A549	lung:	n/a
17	chr2:54950056-54950106	PFSK-1	brain:	n/a
18	chr2:54952081-54952131	SAEC	small airway:	n/a
19	chr2:54936822-54936872	HRCEpiC	kidney:	n/a
20	chr2:54953117-54953167	GM19239	blood:	n/a
21	chr2:54936822-54936872	GM06990	blood:	n/a
22	chr2:54952215-54952265	AG04449	skin:	fetal
23	chr2:54950120-54950170	LNCaP	prostate:	n/a
24	chr2:54947518-54947568	SK-N-SH	brain:	n/a
25	chr2:54935920-54935970	GM12892	blood:	n/a
26	chr2:54952081-54952131	CMK	blood:	n/a
27	chr2:54951307-54951357	NH-A	brain:	n/a
28	chr2:54952078-54952128	HIPEpiC	eye:	n/a
29	chr2:54952078-54952128	SK-N-SH	brain:	n/a
30	chr2:54900910-54900960	HL-60	blood:	n/a
31	chr2:54950462-54950512	NT2-D1	testis:	n/a
32	chr2:54952346-54952396	NHBE	bronchial:	n/a
33	chr2:54952081-54952131	HL-60	blood:	n/a
34	chr2:54900910-54900960	HIPEpiC	eye:	n/a
35	chr2:54950056-54950106	HRE	kidney:	n/a
36	chr2:54950120-54950170	A549	lung:	n/a
37	chr2:54936822-54936872	HL-60	blood:	n/a
38	chr2:54903054-54903104	AG10803	skin:	n/a
39	chr2:54950739-54950789	GM12892	blood:	n/a
40	chr2:54952215-54952265	HEK293	kidney:	embryo
41	chr2:54901055-54901105	U87	brain:	n/a
42	chr2:54936027-54936077	H1-hESC	embryonic stem cell:	embryo
43	chr2:54950462-54950512	GM12892	blood:	n/a
44	chr2:54900343-54900393	HRPEpiC	eye:	n/a
45	chr2:54950960-54951010	SK-N-SH	brain:	n/a
46	chr2:54936822-54936872	HCT-116	colon:	n/a
47	chr2:54984950-54985000	PrEC	prostate:	n/a
48	chr2:54900343-54900393	U87	brain:	n/a
49	chr2:54952078-54952128	Hela-S3	cervix:	n/a
50	chr2:54952346-54952396	Hela-S3	cervix:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:
2	chr2:54896291..54898011-chr2:54946547..54949509,2	MCF-7	breast:
3	chr2:54944838..54947116-chr2:54947338..54951109,3	K562	blood:
4	chr2:54951102..54953008-chr2:54959664..54962831,3	K562	blood:
5	chr2:54881497..54884426-chr2:54893796..54895669,2	K562	blood:
6	chr2:54929858..54931983-chr2:54949708..54952359,2	MCF-7	breast:
7	chr2:54984889..54987163-chr2:54988592..54991408,3	K562	blood:
8	chr2:54956388..54959275-chr2:55046945..55049769,2	MCF-7	breast:
9	chr2:54978781..54981427-chr2:54989483..54991414,2	MCF-7	breast:
10	chr2:54936799..54938418-chr2:54939824..54941892,2	K562	blood:
11	chr2:54992606..54995147-chr2:54997836..54999443,2	MCF-7	breast:
12	chr2:54964880..54967279-chr2:54967947..54971334,3	K562	blood:
13	chr2:54749588..54750503-chr2:54931523..54932509,5	K562	blood:
14	chr2:54896291..54898011-chr2:54946547..54949509,2	MCF-7	breast:
15	chr2:54969183..54970836-chr2:54972425..54974786,2	K562	blood:
16	chr11:68670816..68671423-chr2:54950112..54950753,2	Hela-S3	cervix:
17	chr2:54964880..54967321-chr2:54967947..54972179,4	K562	blood:
18	chr2:54884446..54885396-chr2:54931298..54932461,8	MCF-7	breast:
19	chr16:3327939..3328820-chr2:54949942..54950545,2	Hela-S3	cervix:
20	chr10:180831..181351-chr2:54949948..54950725,2	Hela-S3	cervix:
21	chr2:54785416..54786973-chr2:54949128..54950959,2	K562	blood:
22	chr2:54927376..54930220-chr2:54933382..54935285,3	K562	blood:
23	chr2:54992606..54995147-chr2:54997836..54999443,2	MCF-7	breast:
24	chr2:54749977..54750495-chr2:54931192..54932037,2	MCF-7	breast:
25	chr2:54951102..54952793-chr2:54959664..54961967,2	K562	blood:
26	chr2:54907957..54910043-chr2:54910399..54913105,2	MCF-7	breast:
27	chr2:54938681..54941636-chr2:54954497..54956730,2	K562	blood:
28	chr2:54985673..54988150-chr2:54994047..54996597,3	K562	blood:
29	chr2:54903042..54905906-chr2:54907957..54909608,2	MCF-7	breast:
30	chr2:54978781..54981427-chr2:54989483..54991414,2	MCF-7	breast:
31	chr2:54903042..54905906-chr2:54907957..54909608,2	MCF-7	breast:
32	chr17:74732930..74733813-chr2:54950282..54950812,2	Hela-S3	cervix:
33	chr2:54982346..54983733-chr2:55065232..55066304,6	MCF-7	breast:
34	chr2:54939676..54942733-chr2:54944804..54947037,3	K562	blood:
35	chr2:54784126..54785998-chr2:54916607..54919364,2	K562	blood:
36	chr2:54907957..54910043-chr2:54910399..54913105,2	MCF-7	breast:
37	chr2:54936799..54938418-chr2:54939824..54941892,2	K562	blood:
38	chr2:54967853..54970836-chr2:54972194..54974786,3	K562	blood:
39	chr2:54969183..54970836-chr2:54972425..54974786,2	K562	blood:
40	chr2:54948600..54951021-chr2:54954869..54956715,2	K562	blood:
41	chr2:54913674..54915874-chr2:54933513..54936238,2	K562	blood:
42	chr16:24551013..24551957-chr2:54950033..54950818,2	Hela-S3	cervix:
43	chr2:54942542..54944647-chr2:54947416..54949799,3	K562	blood:
44	chr2:54945376..54947967-chr2:54948856..54951463,3	MCF-7	breast:
45	chr2:54783616..54785998-chr2:54916607..54919364,3	K562	blood:
46	chr2:54898899..54901777-chr2:54904985..54907433,2	K562	blood:
47	chr2:54913674..54915874-chr2:54933513..54936238,2	K562	blood:
48	chr2:54891251..54894116-chr2:54898637..54900968,3	MCF-7	breast:
49	chr2:54999349..55001528-chr2:55002903..55005507,2	MCF-7	breast:
50	chr2:54891342..54894033-chr2:54900112..54903106,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTBN1-4	chr2:54950636-54950914	NONHSAT070747
2	lnc-SPTBN1-1	chr2:54904602-54904656	XLOC_001476
3	lnc-SPTBN1-4	chr2:54950821-54950914	XLOC_001478
4	lnc-RTN4-2	chr2:54975497-54975786	NONHSAT070749
5	lnc-RTN4-2	chr2:54974240-54974591	ENSG00000231334.1
6	lnc-SPTBN1-1	chr2:54908693-54908989	XLOC_001476
7	lnc-RTN4-2	chr2:54974441-54974591	NONHSAT070749
8	lnc-SPTBN1-4	chr2:54951686-54951868	NONHSAT070747
9	lnc-SPTBN1-4	chr2:54951686-54951863	XLOC_001478
10	lnc-RTN4-2	chr2:54975497-54975541	ENSG00000231334.1

No data

Variant related genes	Relation type
EML6	TF binding region
ENSG00000231334	TF binding region
ENSG00000238018	TF binding region
EML6	CpG island
ENSG00000231334	CpG island
ENSG00000238018	CpG island
ENSG00000197345	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000214595	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000122257	chromatin interactions
ENSG00000132740	chromatin interactions
ENSG00000115306	chromatin interactions
ENSG00000015171	chromatin interactions
EIF2AK1	miRNA target sites
PDCD4	miRNA target sites
NFATC2IP	miRNA target sites

Extended variants
information (count: 3900 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3900 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs907136	chr2:54894649-54894650	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559847977	chr2:54894658-54894659	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200440093	chr2:54894701-54894702	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542270381	chr2:54894712-54894713	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs372316026	chr2:54894720-54894721	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs188483644	chr2:54894741-54894742	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530042405	chr2:54894765-54894766	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs569549533	chr2:54894798-54894799	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368247467	chr2:54894817-54894818	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572873420	chr2:54894826-54894827	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541067807	chr2:54894848-54894849	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563500162	chr2:54894856-54894857	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192150208	chr2:54894902-54894903	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184320699	chr2:54894981-54894982	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372540081	chr2:54895003-54895004	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75955192	chr2:54895042-54895043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534393484	chr2:54895049-54895050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548216746	chr2:54895050-54895051	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559283215	chr2:54895090-54895091	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567955690	chr2:54895094-54895095	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560962832	chr2:54895098-54895099	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557327673	chr2:54895137-54895138	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577381029	chr2:54895160-54895161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116292828	chr2:54895174-54895175	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553579754	chr2:54895188-54895189	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573419764	chr2:54895216-54895217	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72906421	chr2:54895233-54895234	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544016246	chr2:54895261-54895262	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139247782	chr2:54895319-54895320	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374341120	chr2:54895334-54895335	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115463148	chr2:54895355-54895356	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543721950	chr2:54895360-54895361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114524675	chr2:54895373-54895374	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532259502	chr2:54895384-54895385	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551982185	chr2:54895390-54895391	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143480877	chr2:54895409-54895410	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377422949	chr2:54895411-54895412	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369061454	chr2:54895417-54895418	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547939985	chr2:54895429-54895430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372002326	chr2:54895440-54895441	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375995679	chr2:54895444-54895445	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112455639	chr2:54895447-54895448	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371618826	chr2:54895461-54895462	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201967701	chr2:54895478-54895479	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536617105	chr2:54895502-54895503	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147084588	chr2:54895523-54895524	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201443812	chr2:54895524-54895525	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540132022	chr2:54895545-54895546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112558321	chr2:54895570-54895571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188519257	chr2:54895572-54895573	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:54846600-54898000	Strong transcription	Dnd41	blood
6	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
9	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
13	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:54865400-54898400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:54865800-54898200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:54866400-54897200	Strong transcription	Primary B cells from cord blood	blood
19	chr2:54867200-54897800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:54867200-54898200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:54868800-54898600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:54869000-54896400	Strong transcription	Colonic Mucosa	Colon
23	chr2:54869600-54898600	Strong transcription	Fetal Thymus	thymus
24	chr2:54869800-54895200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:54869800-54897600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:54878400-54897000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:54879600-54898400	Strong transcription	GM12878-XiMat	blood
28	chr2:54880200-54898400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:54880200-54898400	Strong transcription	Thymus	Thymus
30	chr2:54882400-54894800	Weak transcription	K562	blood
31	chr2:54883000-54895000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:54883000-54899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:54885000-54896400	Strong transcription	Hela-S3	cervix
34	chr2:54886800-54896600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:54889200-54898600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:54890000-54896400	Genic enhancers	Liver	Liver
37	chr2:54890800-54895600	Genic enhancers	Left Ventricle	heart
38	chr2:54890800-54898200	Genic enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:54891000-54899400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:54891200-54899800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:54891400-54895400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr2:54891400-54895600	Genic enhancers	Lung	lung
43	chr2:54891400-54896000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:54891400-54896600	Genic enhancers	Placenta	Placenta
45	chr2:54891600-54895000	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr2:54891600-54895800	Enhancers	Right Atrium	heart
47	chr2:54891600-54898000	Genic enhancers	Brain Hippocampus Middle	brain
48	chr2:54891800-54895000	Strong transcription	Gastric	stomach
49	chr2:54891800-54897800	Genic enhancers	NHLF	lung
50	chr2:54892000-54895000	Weak transcription	Aorta	Aorta

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