Variant report

Variant	nsv1043938
Chromosome Location	chr14:20427182-20776276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1763)
CpG islands
(count:1711)
Chromatin interactive
region (count:58)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1763 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:20645562-20646086	K562	blood:	n/a	n/a
2	ARID3A	chr14:20584982-20585271	K562	blood:	n/a	n/a
3	ARID3A	chr14:20512405-20512844	K562	blood:	n/a	n/a
4	ARID3A	chr14:20730858-20731162	K562	blood:	n/a	n/a
5	ARID3A	chr14:20773991-20774309	K562	blood:	n/a	n/a
6	ARID3A	chr14:20644582-20645133	K562	blood:	n/a	n/a
7	ARID3A	chr14:20773818-20774422	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:20771807-20771811	K562	blood:	n/a	n/a
9	ATF1	chr14:20645594-20645932	K562	blood:	n/a	n/a
10	ATF1	chr14:20724352-20724489	K562	blood:	n/a	n/a
11	ATF1	chr14:20608626-20608778	K562	blood:	n/a	n/a
12	ATF1	chr14:20774021-20774323	K562	blood:	n/a	n/a
13	ATF1	chr14:20769953-20770557	K562	blood:	n/a	n/a
14	ATF1	chr14:20730830-20731218	K562	blood:	n/a	n/a
15	ATF1	chr14:20561670-20561913	K562	blood:	n/a	n/a
16	ATF1	chr14:20584956-20585164	K562	blood:	n/a	n/a
17	ATF2	chr14:20773823-20774338	GM12878	blood:	n/a	n/a
18	ATF2	chr14:20763261-20763704	GM12878	blood:	n/a	n/a
19	ATF2	chr14:20763140-20763708	GM12878	blood:	n/a	n/a
20	ATF3	chr14:20512489-20512787	K562	blood:	n/a	n/a
21	ATF3	chr14:20638032-20638356	K562	blood:	n/a	n/a
22	ATF3	chr14:20773896-20774392	A549	lung:	n/a	n/a
23	ATF3	chr14:20584968-20585229	K562	blood:	n/a	n/a
24	ATF3	chr14:20746654-20746850	K562	blood:	n/a	n/a
25	ATF3	chr14:20730820-20731074	K562	blood:	n/a	n/a
26	ATF3	chr14:20773919-20774363	A549	lung:	n/a	n/a
27	ATF3	chr14:20645584-20645910	K562	blood:	n/a	n/a
28	BACH1	chr14:20770210-20770858	K562	blood:	n/a	n/a
29	BACH1	chr14:20584638-20585505	K562	blood:	n/a	n/a
30	BACH1	chr14:20687322-20687431	H1-hESC	embryonic stem cell:	n/a	chr14:20687387-20687401
31	BACH1	chr14:20687217-20687569	K562	blood:	n/a	chr14:20687387-20687401
32	BATF	chr14:20763192-20763680	GM12878	blood:	n/a	n/a
33	BATF	chr14:20770190-20770528	GM12878	blood:	n/a	chr14:20770397-20770408
34	BATF	chr14:20763244-20763574	GM12878	blood:	n/a	n/a
35	BATF	chr14:20770273-20770531	GM12878	blood:	n/a	chr14:20770397-20770408
36	BCL11A	chr14:20763241-20763623	GM12878	blood:	n/a	chr14:20763413-20763422 chr14:20763410-20763419 chr14:20763448-20763457
37	BCL11A	chr14:20763192-20763682	GM12878	blood:	n/a	chr14:20763413-20763422 chr14:20763410-20763419 chr14:20763448-20763457
38	BCL11A	chr14:20730703-20731061	GM12878	blood:	n/a	n/a
39	BCL3	chr14:20773699-20774351	A549	lung:	n/a	n/a
40	BCL3	chr14:20773540-20774360	A549	lung:	n/a	n/a
41	BCL3	chr14:20763170-20763643	GM12878	blood:	n/a	chr14:20763413-20763422 chr14:20763410-20763419 chr14:20763448-20763457
42	BCLAF1	chr14:20773758-20774328	GM12878	blood:	n/a	n/a
43	BCLAF1	chr14:20773963-20774395	K562	blood:	n/a	n/a
44	BCLAF1	chr14:20773852-20774368	GM12878	blood:	n/a	n/a
45	BCLAF1	chr14:20773893-20774361	K562	blood:	n/a	n/a
46	BCLAF1	chr14:20763131-20763678	GM12878	blood:	n/a	chr14:20763413-20763422 chr14:20763410-20763419 chr14:20763448-20763457
47	BCLAF1	chr14:20763307-20763668	GM12878	blood:	n/a	chr14:20763413-20763422 chr14:20763410-20763419 chr14:20763448-20763457
48	BHLHE40	chr14:20730754-20731222	GM12878	blood:	n/a	n/a
49	BHLHE40	chr14:20653018-20653080	K562	blood:	n/a	n/a
50	BHLHE40	chr14:20645542-20646303	K562	blood:	n/a	n/a

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20584239-20584289	HCT-116	colon:	n/a
2	chr14:20664021-20664071	A549	lung:	n/a
3	chr14:20611779-20611829	MCF10A-Er-Src	breast:	n/a
4	chr14:20584239-20584289	HCT-116	colon:	n/a
5	chr14:20664021-20664071	A549	lung:	n/a
6	chr14:20611779-20611829	MCF10A-Er-Src	breast:	n/a
7	chr14:20710905-20710955	AoSMC	blood vessel:	n/a
8	chr14:20774219-20774269	HCM	heart:	n/a
9	chr14:20585753-20585803	HRE	kidney:	n/a
10	chr14:20710905-20710955	HCM	heart:	n/a
11	chr14:20710881-20710931	HRE	kidney:	n/a
12	chr14:20757727-20757777	GM12892	blood:	n/a
13	chr14:20482899-20482949	HRE	kidney:	n/a
14	chr14:20710881-20710931	GM12891	blood:	n/a
15	chr14:20710905-20710955	A549	lung:	n/a
16	chr14:20711344-20711394	PANC-1	pancreas:	n/a
17	chr14:20502658-20502708	HepG2	liver:	n/a
18	chr14:20774101-20774151	BE2_C	brain:	n/a
19	chr14:20710315-20710365	CMK	blood:	n/a
20	chr14:20773935-20773985	HMEC	breast:	n/a
21	chr14:20584239-20584289	GM12878	blood:	n/a
22	chr14:20482899-20482949	GM06990	blood:	n/a
23	chr14:20691777-20691827	GM19239	blood:	n/a
24	chr14:20528812-20528862	T-47D	breast:	n/a
25	chr14:20611696-20611746	HMEC	breast:	n/a
26	chr14:20710905-20710955	GM12891	blood:	n/a
27	chr14:20757727-20757777	ovcar-3	ovarian:	n/a
28	chr14:20586367-20586417	NH-A	brain:	n/a
29	chr14:20444164-20444214	GM12891	blood:	n/a
30	chr14:20774101-20774151	HL-60	blood:	n/a
31	chr14:20710905-20710955	HUVEC	blood vessel:	n/a
32	chr14:20774818-20774868	HL-60	blood:	n/a
33	chr14:20691777-20691827	K562	blood:	n/a
34	chr14:20584239-20584289	LNCaP	prostate:	n/a
35	chr14:20774219-20774269	Jurkat	blood:	n/a
36	chr14:20773935-20773985	ProgFib	skin:	n/a
37	chr14:20774219-20774269	ovcar-3	ovarian:	n/a
38	chr14:20773935-20773985	T-47D	breast:	n/a
39	chr14:20710315-20710365	RPTEC	kidney:	n/a
40	chr14:20704361-20704411	AG09319	gingival:	n/a
41	chr14:20664580-20664630	AoSMC	blood vessel:	n/a
42	chr14:20710315-20710365	HL-60	blood:	n/a
43	chr14:20666088-20666138	NT2-D1	testis:	n/a
44	chr14:20611779-20611829	ECC-1	luminal epithelium:	n/a
45	chr14:20585753-20585803	ECC-1	luminal epithelium:	n/a
46	chr14:20612220-20612270	NT2-D1	testis:	n/a
47	chr14:20611696-20611746	MCF10A-Er-Src	breast:	n/a
48	chr14:20664021-20664071	HPAEpiC	pulmonary alveolar:	n/a
49	chr14:20612220-20612270	SKMC	muscle:	n/a
50	chr14:20528812-20528862	HAEpiC	amniotic membrane:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:20772439..20773954-chr14:20799516..20802559,3	MCF-7	breast:
2	chr14:20623640..20625607-chr14:20644962..20647182,2	K562	blood:
3	chr14:20674085..20677001-chr14:20687478..20690164,2	MCF-7	breast:
4	chr14:20769637..20772155-chr14:20772254..20774173,3	K562	blood:
5	chr14:20755024..20757499-chr14:20761052..20762871,2	MCF-7	breast:
6	chr14:20691139..20693631-chr14:20695657..20698105,2	K562	blood:
7	chr14:20657790..20659854-chr14:20660139..20662743,2	K562	blood:
8	chr14:20774963..20777741-chr14:20782284..20784767,2	MCF-7	breast:
9	chr14:20756758..20759737-chr14:20760668..20764234,4	K562	blood:
10	chr14:20770105..20772048-chr14:20773920..20775883,2	MCF-7	breast:
11	chr14:20649377..20653239-chr14:20653513..20656414,3	K562	blood:
12	chr14:20611730..20613442-chr14:20616450..20619196,2	K562	blood:
13	chr14:20770396..20771996-chr14:20811365..20812904,2	MCF-7	breast:
14	chr14:20645666..20648683-chr14:20649468..20653312,5	K562	blood:
15	chr14:20765245..20767756-chr14:20769308..20771305,2	K562	blood:
16	chr14:20615947..20618319-chr14:20622650..20625017,2	K562	blood:
17	chr14:20721089..20723559-chr14:20745289..20746790,2	K562	blood:
18	chr14:20453392..20455779-chr14:20560575..20562246,2	K562	blood:
19	chr14:20657790..20659854-chr14:20660139..20662743,2	K562	blood:
20	chr14:20623957..20624479-chr3:64655642..64656615,2	MCF-7	breast:
21	chr14:20578711..20580377-chr14:20580738..20583327,2	K562	blood:
22	chr14:20738427..20740825-chr14:20746566..20748519,2	K562	blood:
23	chr14:20642540..20645135-chr14:20796578..20798741,2	K562	blood:
24	chr14:20653449..20656373-chr14:20661305..20663533,2	MCF-7	breast:
25	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
26	chr14:20615947..20618319-chr14:20622650..20625486,3	K562	blood:
27	chr14:20716993..20719012-chr14:20810406..20812740,2	MCF-7	breast:
28	chr14:20728878..20731478-chr14:20760523..20763467,2	K562	blood:
29	chr14:20768802..20770560-chr14:20773922..20776589,2	MCF-7	breast:
30	chr14:20772605..20775038-chr14:20775340..20777178,2	K562	blood:
31	chr14:20764589..20767514-chr14:20772256..20774685,2	K562	blood:
32	chr14:20774180..20774689-chr14:20795248..20796097,2	MCF-7	breast:
33	chr14:20765245..20767756-chr14:20769308..20771305,2	K562	blood:
34	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:
35	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:
36	chr14:20583619..20586533-chr14:20649310..20650931,2	K562	blood:
37	chr14:20767452..20770221-chr14:20798521..20800836,2	K562	blood:
38	chr14:20653650..20655621-chr14:20656798..20658985,2	K562	blood:
39	chr14:20645875..20648132-chr14:20651152..20653312,3	K562	blood:
40	chr14:20479309..20481272-chr14:20484820..20486760,2	K562	blood:
41	chr14:20649377..20653239-chr14:20653513..20656414,3	K562	blood:
42	chr14:20769637..20771954-chr14:20772645..20774173,2	K562	blood:
43	chr14:20738427..20740825-chr14:20746566..20748519,2	K562	blood:
44	chr14:20653650..20655621-chr14:20656798..20658985,2	K562	blood:
45	chr14:20721089..20723559-chr14:20745289..20746790,2	K562	blood:
46	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
47	chr14:20772687..20775435-chr14:20922031..20924000,2	MCF-7	breast:
48	chr14:20772552..20774812-chr14:20810086..20811786,2	MCF-7	breast:
49	chr14:20582658..20584245-chr14:20584576..20586426,2	K562	blood:
50	chr14:20623640..20625607-chr14:20644962..20647182,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC5-2	chr14:20724717-20724844	NONHSAT035556
2	lnc-TTC5-2	chr14:20729772-20729892	NONHSAT035556
3	lnc-OR4N5-1	chr14:20617391-20617904	NONHSAT035552
4	lnc-TTC5-2	chr14:20755347-20755899	NONHSAT035556
5	lnc-TTC5-2	chr14:20728639-20732467	ENSG00000258768.2
6	lnc-TTC5-3	chr14:20738080-20742354	ucscGeneNc_uc001vzu_1
7	lnc-TTC5-2	chr14:20726344-20726358	NONHSAT035556
8	lnc-TTC5-2	chr14:20728743-20729137	NONHSAT035558
9	lnc-TTC5-2	chr14:20725877-20725934	NONHSAT035556
10	lnc-PARP2-1	chr14:20774596-20774970	ENSG00000258459.1
11	lnc-TTC5-2	chr14:20729548-20729773	NONHSAT035558
12	lnc-PARP2-1	chr14:20773889-20774261	ENSG00000258459.1

No data

Variant related genes	Relation type
ENSG00000265199	TF binding region
OR4T1P	TF binding region
OR4K15	TF binding region
OR11G2	TF binding region
ENSG00000258768	TF binding region
OR4L1	TF binding region
OR4Q2	TF binding region
RNA5SP380	TF binding region
OR11H6	TF binding region
OR4K13	TF binding region
OR4N5	TF binding region
OR4K17	TF binding region
TTC5	TF binding region
OR11H5P	TF binding region
OR4K14	TF binding region
OR4U1P	TF binding region
ENSG00000258459	TF binding region
RNA5SP381	TF binding region
OR11H4	TF binding region
ENSG00000259095	TF binding region
OR11H7	TF binding region
ENSG00000266336	TF binding region
OR11G1P	TF binding region
PSMB7P1	TF binding region
ENSG00000265199	CpG island
OR4T1P	CpG island
OR4K15	CpG island
OR11G2	CpG island
ENSG00000258768	CpG island
OR4L1	CpG island
OR4Q2	CpG island
RNA5SP380	CpG island
OR11H6	CpG island
OR4K13	CpG island
OR4N5	CpG island
OR4K17	CpG island
TTC5	CpG island
OR11H5P	CpG island
OR4K14	CpG island
OR4U1P	CpG island
ENSG00000258459	CpG island
RNA5SP381	CpG island
OR11H4	CpG island
ENSG00000259095	CpG island
OR11H7	CpG island
ENSG00000266336	CpG island
OR11G1P	CpG island
PSMB7P1	CpG island
ENSG00000258468	chromatin interactions
ENSG00000176230	chromatin interactions
ENSG00000258806	chromatin interactions
ENSG00000100823	chromatin interactions
ENSG00000259074	chromatin interactions
ENSG00000184394	chromatin interactions
ENSG00000136319	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000176219	chromatin interactions
ENSG00000258459	chromatin interactions
ENSG00000092094	chromatin interactions
ENSG00000100814	chromatin interactions
ENSG00000258641	chromatin interactions

Extended variants
information (count: 6388 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:6388 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567366637	chr14:20437813-20437814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12435361	chr14:20437827-20437828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180808148	chr14:20437854-20437855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28588959	chr14:20437864-20437865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546125232	chr14:20437870-20437871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564561741	chr14:20437873-20437874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6573022	chr14:20437889-20437890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543425878	chr14:20437890-20437891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183670307	chr14:20437894-20437895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6573023	chr14:20437901-20437902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541162717	chr14:20437904-20437905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6573024	chr14:20437924-20437925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551574738	chr14:20437934-20437935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8013452	chr14:20437981-20437982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188757819	chr14:20437982-20437983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548141379	chr14:20438005-20438006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6573027	chr14:20438012-20438013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567149957	chr14:20438029-20438030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181084243	chr14:20438033-20438034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546364840	chr14:20438045-20438046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35138096	chr14:20438073-20438074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566293815	chr14:20438077-20438078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs8013635	chr14:20438079-20438080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557894274	chr14:20438127-20438128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186128142	chr14:20438131-20438132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570287323	chr14:20438132-20438133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576335442	chr14:20438133-20438134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537298656	chr14:20438145-20438146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs8013673	chr14:20438149-20438150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112393209	chr14:20438153-20438154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570192059	chr14:20438207-20438208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541547679	chr14:20438222-20438223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191541350	chr14:20438256-20438257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8009603	chr14:20438262-20438263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545234806	chr14:20438265-20438266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563427973	chr14:20438268-20438269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530875795	chr14:20438287-20438288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549000260	chr14:20438309-20438310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182575491	chr14:20438375-20438376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8022752	chr14:20438378-20438379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546544918	chr14:20438383-20438384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570961965	chr14:20438449-20438450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187098150	chr14:20438459-20438460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538353349	chr14:20438460-20438461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534447078	chr14:20438479-20438480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552665576	chr14:20438484-20438485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538304214	chr14:20438507-20438508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367844724	chr14:20438517-20438518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs8014326	chr14:20438524-20438525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569910299	chr14:20438550-20438551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1506 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20437800-20438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:20437800-20438200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:20438000-20438800	Enhancers	Dnd41	blood
4	chr14:20438200-20438600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:20438200-20441400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:20438600-20438800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr14:20438600-20438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:20438800-20441400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:20438800-20441400	Weak transcription	Dnd41	blood
10	chr14:20440000-20440800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:20440200-20440400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:20440200-20440400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr14:20440200-20444000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:20440400-20441400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:20440600-20441600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:20440800-20441200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:20441200-20444200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:20441400-20441600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:20441400-20442200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:20441400-20443800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:20441400-20444200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:20441400-20444400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:20441400-20444400	Enhancers	Dnd41	blood
24	chr14:20441400-20444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:20441600-20443800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:20441800-20443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:20442200-20443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:20443000-20443200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:20443200-20443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:20443800-20444000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:20444600-20445800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:20445800-20446000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:20448800-20449000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:20461200-20461600	Enhancers	Dnd41	blood
35	chr14:20461600-20462400	ZNF genes & repeats	Dnd41	blood
36	chr14:20470000-20471200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:20470600-20471000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:20478800-20479000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:20479600-20479800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:20482600-20483200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:20485000-20485600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr14:20487800-20488200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr14:20496200-20499200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr14:20496600-20496800	Enhancers	Small Intestine	intestine
45	chr14:20500000-20500400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:20502200-20502400	Enhancers	Pancreas	Pancrea
47	chr14:20502400-20504200	Weak transcription	Pancreas	Pancrea
48	chr14:20512200-20512400	Enhancers	K562	blood
49	chr14:20512400-20512800	Flanking Active TSS	K562	blood
50	chr14:20512800-20513200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links