Variant report

Variant	nsv1054389
Chromosome Location	chr14:67804987-67922598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2756)
CpG islands
(count:1954)
Chromatin interactive
region (count:194)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:2)

(count:2756 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67906963-67907136	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:67893813-67894102	K562	blood:	n/a	n/a
3	ARID3A	chr14:67863452-67863614	HepG2	liver:	n/a	chr14:67863519-67863535
4	ARID3A	chr14:67882772-67883133	K562	blood:	n/a	n/a
5	ARID3A	chr14:67893880-67894078	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:67857870-67858277	K562	blood:	n/a	n/a
7	ARID3A	chr14:67824427-67825059	K562	blood:	n/a	n/a
8	ARID3A	chr14:67826376-67827461	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:67855999-67856331	K562	blood:	n/a	n/a
10	ATF1	chr14:67880901-67881291	K562	blood:	n/a	n/a
11	ATF1	chr14:67888157-67888778	K562	blood:	n/a	n/a
12	ATF1	chr14:67893759-67894087	K562	blood:	n/a	n/a
13	ATF1	chr14:67882889-67883127	K562	blood:	n/a	n/a
14	ATF1	chr14:67824513-67825058	K562	blood:	n/a	n/a
15	ATF1	chr14:67885301-67885959	K562	blood:	n/a	n/a
16	ATF2	chr14:67886894-67887276	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr14:67826295-67827159	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr14:67826601-67827581	GM12878	blood:	n/a	n/a
19	ATF2	chr14:67826330-67827336	GM12878	blood:	n/a	n/a
20	ATF3	chr14:67880831-67881290	K562	blood:	n/a	chr14:67881043-67881057
21	ATF3	chr14:67885567-67885968	K562	blood:	n/a	n/a
22	ATF3	chr14:67826282-67827166	GM12878	blood:	n/a	n/a
23	ATF3	chr14:67882886-67883050	K562	blood:	n/a	n/a
24	ATF3	chr14:67827436-67827835	K562	blood:	n/a	n/a
25	ATF3	chr14:67826380-67826752	K562	blood:	n/a	n/a
26	ATF3	chr14:67886831-67887162	K562	blood:	n/a	chr14:67887063-67887077 chr14:67887067-67887078 chr14:67887065-67887076 chr14:67887067-67887078
27	ATF3	chr14:67826387-67827439	A549	lung:	n/a	n/a
28	ATF3	chr14:67880916-67881163	K562	blood:	n/a	chr14:67881043-67881057
29	ATF3	chr14:67824705-67825016	K562	blood:	n/a	n/a
30	ATF3	chr14:67826252-67827295	A549	lung:	n/a	n/a
31	BACH1	chr14:67828362-67828556	K562	blood:	n/a	n/a
32	BACH1	chr14:67914603-67914830	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr14:67843312-67843328	K562	blood:	n/a	n/a
34	BACH1	chr14:67893885-67894323	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr14:67885750-67885953	K562	blood:	n/a	n/a
36	BCL3	chr14:67826284-67827381	A549	lung:	n/a	chr14:67826570-67826579 chr14:67826576-67826585 chr14:67826567-67826576
37	BCL3	chr14:67826240-67827432	A549	lung:	n/a	chr14:67826570-67826579 chr14:67826576-67826585 chr14:67826567-67826576
38	BCLAF1	chr14:67826330-67827403	GM12878	blood:	n/a	chr14:67826570-67826579 chr14:67826576-67826585 chr14:67826567-67826576
39	BCLAF1	chr14:67826311-67827677	GM12878	blood:	n/a	chr14:67826570-67826579 chr14:67826576-67826585 chr14:67827448-67827457 chr14:67826567-67826576
40	BHLHE40	chr14:67895292-67895743	HepG2	liver:	n/a	n/a
41	BHLHE40	chr14:67893697-67894184	K562	blood:	n/a	n/a
42	BHLHE40	chr14:67896964-67897369	HepG2	liver:	n/a	chr14:67897203-67897212 chr14:67897198-67897219 chr14:67897204-67897213 chr14:67897204-67897213 chr14:67897205-67897214 chr14:67897202-67897215
43	BHLHE40	chr14:67877239-67877364	K562	blood:	n/a	n/a
44	BHLHE40	chr14:67875187-67875453	HepG2	liver:	n/a	n/a
45	BHLHE40	chr14:67826340-67827455	GM12878	blood:	n/a	n/a
46	BHLHE40	chr14:67880875-67881263	K562	blood:	n/a	n/a
47	BHLHE40	chr14:67826400-67827104	A549	lung:	n/a	n/a
48	BHLHE40	chr14:67826348-67827461	K562	blood:	n/a	n/a
49	BHLHE40	chr14:67886990-67887118	GM12878	blood:	n/a	n/a
50	BHLHE40	chr14:67886888-67887245	K562	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:67826966-67827016	NB4	blood:	n/a
2	chr14:67826009-67826059	HCM	heart:	n/a
3	chr14:67826966-67827016	NB4	blood:	n/a
4	chr14:67826009-67826059	HCM	heart:	n/a
5	chr14:67826449-67826499	NH-A	brain:	n/a
6	chr14:67879126-67879176	SK-N-MC	brain:	n/a
7	chr14:67850484-67850534	HNPCEpiC	eye:	n/a
8	chr14:67827467-67827517	A549	lung:	n/a
9	chr14:67826966-67827016	NHDF-neo	bronchial:	n/a
10	chr14:67894263-67894313	NH-A	brain:	n/a
11	chr14:67879166-67879216	PrEC	prostate:	n/a
12	chr14:67822707-67822757	HIPEpiC	eye:	n/a
13	chr14:67879101-67879151	NHDF-neo	bronchial:	n/a
14	chr14:67914417-67914467	HCPEpiC	choroid plexus:	n/a
15	chr14:67879385-67879435	HEEpiC	esophagus:	n/a
16	chr14:67826966-67827016	HRPEpiC	eye:	n/a
17	chr14:67853825-67853875	MCF10A-Er-Src	breast:	n/a
18	chr14:67826009-67826059	AG09319	gingival:	n/a
19	chr14:67894263-67894313	GM19239	blood:	n/a
20	chr14:67878690-67878740	Caco-2	colon:	n/a
21	chr14:67826378-67826428	PANC-1	pancreas:	n/a
22	chr14:67916110-67916160	NHBE	bronchial:	n/a
23	chr14:67879385-67879435	ECC-1	luminal epithelium:	n/a
24	chr14:67826044-67826094	PANC-1	pancreas:	n/a
25	chr14:67826350-67826400	NB4	blood:	n/a
26	chr14:67826009-67826059	MCF-7	breast:	n/a
27	chr14:67826009-67826059	AG09309	skin:	n/a
28	chr14:67878535-67878585	HEEpiC	esophagus:	n/a
29	chr14:67826966-67827016	HepG2	liver:	n/a
30	chr14:67915433-67915483	ECC-1	luminal epithelium:	n/a
31	chr14:67826009-67826059	AoSMC	blood vessel:	n/a
32	chr14:67894164-67894214	NHBE	bronchial:	n/a
33	chr14:67826009-67826059	BE2_C	brain:	n/a
34	chr14:67804956-67805006	PFSK-1	brain:	n/a
35	chr14:67826044-67826094	Hela-S3	cervix:	n/a
36	chr14:67830554-67830604	SAEC	small airway:	n/a
37	chr14:67845244-67845294	HUVEC	blood vessel:	n/a
38	chr14:67881521-67881571	ovcar-3	ovarian:	n/a
39	chr14:67804956-67805006	HAEpiC	amniotic membrane:	n/a
40	chr14:67850484-67850534	ProgFib	skin:	n/a
41	chr14:67894263-67894313	MCF-7	breast:	n/a
42	chr14:67826449-67826499	GM19239	blood:	n/a
43	chr14:67850484-67850534	GM12892	blood:	n/a
44	chr14:67804956-67805006	T-47D	breast:	n/a
45	chr14:67878535-67878585	H1-hESC	embryonic stem cell:	embryo
46	chr14:67830554-67830604	AG10803	skin:	n/a
47	chr14:67878142-67878192	ProgFib	skin:	n/a
48	chr14:67850484-67850534	GM06990	blood:	n/a
49	chr14:67878690-67878740	HIPEpiC	eye:	n/a
50	chr14:67828531-67828581	BE2_C	brain:	n/a

(count:194 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:67880313..67882274-chr14:67888977..67891033,2	K562	blood:
2	chr14:67899751..67904520-chr14:67905212..67909411,5	MCF-7	breast:
3	chr14:67838465..67840641-chr14:67844091..67845976,2	MCF-7	breast:
4	chr14:67838276..67841274-chr14:67845305..67847210,2	K562	blood:
5	chr14:67884151..67886526-chr14:67911099..67913926,2	K562	blood:
6	chr14:67826492..67828936-chr14:67836980..67838913,2	K562	blood:
7	chr14:67893593..67894512-chr14:67993089..67993976,3	MCF-7	breast:
8	chr14:67841196..67843157-chr14:67843728..67845268,2	MCF-7	breast:
9	chr14:67903388..67905312-chr14:67950420..67951946,2	MCF-7	breast:
10	chr14:67855990..67858620-chr14:67871680..67873516,2	MCF-7	breast:
11	chr14:67882986..67884493-chr14:67884717..67887136,2	K562	blood:
12	chr14:67880503..67882430-chr14:67981236..67983724,2	MCF-7	breast:
13	chr14:67820712..67822538-chr14:67826634..67828605,2	K562	blood:
14	chr14:67859950..67861959-chr14:67870386..67872536,2	MCF-7	breast:
15	chr14:67844890..67848523-chr14:67850146..67853406,4	K562	blood:
16	chr14:67831647..67837851-chr14:67838094..67843638,9	K562	blood:
17	chr14:67893770..67894281-chr14:68047105..68047614,2	MCF-7	breast:
18	chr14:67838276..67841274-chr14:67845305..67847210,2	K562	blood:
19	chr14:67826771..67827440-chr9:102581988..102582692,2	Hela-S3	cervix:
20	chr14:67836281..67838188-chr14:67843116..67845850,2	MCF-7	breast:
21	chr14:67818692..67820776-chr14:67842007..67844980,2	K562	blood:
22	chr14:67816976..67818692-chr14:67827007..67828546,2	MCF-7	breast:
23	chr14:67890575..67893217-chr14:68140093..68141986,3	MCF-7	breast:
24	chr14:67816976..67818692-chr14:67827007..67828546,2	MCF-7	breast:
25	chr14:67824949..67830846-chr14:67831732..67836523,8	K562	blood:
26	chr14:67896135..67897890-chr14:67898329..67900959,2	MCF-7	breast:
27	chr14:67825430..67827590-chr14:67846726..67850726,3	K562	blood:
28	chr14:67852161..67854104-chr14:67854613..67856832,2	MCF-7	breast:
29	chr14:67837736..67843845-chr14:67848220..67852492,7	MCF-7	breast:
30	chr14:67827042..67827585-chr7:158622193..158622723,2	Hela-S3	cervix:
31	chr14:67829435..67831419-chr14:67848497..67850545,2	MCF-7	breast:
32	chr14:67854976..67857468-chr14:67858474..67861357,2	MCF-7	breast:
33	chr14:67893842..67894620-chr14:68037699..68038738,5	MCF-7	breast:
34	chr14:67830026..67833675-chr14:67835617..67839750,4	MCF-7	breast:
35	chr14:67831655..67833160-chr14:67836310..67837942,2	K562	blood:
36	chr14:67912599..67913704-chr14:67946532..67947321,6	MCF-7	breast:
37	chr14:67863179..67866921-chr14:67868694..67870858,3	K562	blood:
38	chr14:67838437..67841197-chr14:67844538..67847410,2	MCF-7	breast:
39	chr14:67893686..67894409-chr14:68042268..68043216,2	MCF-7	breast:
40	chr14:67898493..67900065-chr14:67902969..67905934,2	MCF-7	breast:
41	chr14:67828950..67831187-chr14:67833390..67835358,2	MCF-7	breast:
42	chr14:67841196..67843157-chr14:67843728..67845268,2	MCF-7	breast:
43	chr14:67826792..67829063-chr14:67851245..67853982,2	K562	blood:
44	chr14:67919524..67920430-chr14:68000107..68000931,2	MCF-7	breast:
45	chr14:67898493..67900065-chr14:67902969..67905934,2	MCF-7	breast:
46	chr14:67902688..67903597-chr14:67993100..67993768,2	MCF-7	breast:
47	chr14:67869356..67872173-chr14:67872703..67875078,2	K562	blood:
48	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
49	chr14:67885398..67886397-chr14:67893582..67894143,2	K562	blood:
50	chr14:67836330..67839747-chr14:67839850..67842093,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM229B-1	chr14:67913801-67914649	NONHSAT037444
2	lnc-PLEK2-2	chr14:67921205-67921398	NONHSAT037445

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5694	chr14:67908619-67908639	MIMAT0022487

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EIF2S1	hsa-miR-21-5p	chr14:67850875-67850896
2	EIF2S1	hsa-miR-21-5p	chr14:67852260-67852281

Variant related genes	Relation type
ATP6V1D	TF binding region
EIF2S1	TF binding region
PLEK2	TF binding region
MIR5694	TF binding region
ENSG00000199755	TF binding region
ATP6V1D	CpG island
EIF2S1	CpG island
PLEK2	CpG island
MIR5694	CpG island
ENSG00000199755	CpG island
ENSG00000172717	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000198133	chromatin interactions
ENSG00000176454	chromatin interactions
ENSG00000265993	chromatin interactions
ENSG00000072415	chromatin interactions
ENSG00000179218	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000100558	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000199755	chromatin interactions
ENSG00000100554	chromatin interactions
ENSG00000134001	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000165724	chromatin interactions
ENSG00000100564	chromatin interactions
ENSG00000054690	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000237461	chromatin interactions
ENSG00000136448	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000162885	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000100568	chromatin interactions
ENSG00000117868	chromatin interactions

Extended variants
information (count: 4226 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:4226 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531009388	chr14:67805002-67805003	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs112852385	chr14:67805014-67805015	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138080705	chr14:67805019-67805020	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs544098947	chr14:67805096-67805097	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs562469337	chr14:67805105-67805106	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143561979	chr14:67805144-67805145	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111919038	chr14:67805187-67805188	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549355604	chr14:67805200-67805201	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs1045060	chr14:67805253-67805254	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs116129507	chr14:67805323-67805324	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372126365	chr14:67805356-67805357	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150392973	chr14:67805388-67805389	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527374469	chr14:67805397-67805398	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572349725	chr14:67805403-67805404	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201344061	chr14:67805419-67805420	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564093655	chr14:67805469-67805470	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200296816	chr14:67805471-67805472	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376969123	chr14:67805493-67805494	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199510280	chr14:67805518-67805519	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528788481	chr14:67805534-67805535	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141155657	chr14:67805536-67805537	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568124882	chr14:67805594-67805595	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535500155	chr14:67805648-67805649	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184424063	chr14:67805707-67805708	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376652823	chr14:67805710-67805711	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547474198	chr14:67805718-67805719	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111447099	chr14:67805722-67805723	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12886751	chr14:67805763-67805764	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566195343	chr14:67805771-67805772	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539511298	chr14:67805775-67805776	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558350182	chr14:67805837-67805838	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs373738668	chr14:67805840-67805841	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs576660127	chr14:67805855-67805856	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs372236264	chr14:67805857-67805858	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs539824290	chr14:67805902-67805903	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs556135034	chr14:67805961-67805962	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574382965	chr14:67806003-67806004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386778455	chr14:67806008-67806009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57154550	chr14:67806010-67806011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs559876767	chr14:67806012-67806013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs72717393	chr14:67806053-67806054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372224539	chr14:67806095-67806096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545553132	chr14:67806104-67806105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188117191	chr14:67806181-67806182	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs536104775	chr14:67806182-67806183	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs114551826	chr14:67806204-67806205	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs150706453	chr14:67806229-67806230	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs550949325	chr14:67806238-67806239	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs569679591	chr14:67806249-67806250	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs561696288	chr14:67806250-67806251	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
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
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:3404 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67732400-67810000	Weak transcription	Gastric	stomach
2	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
3	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
5	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:67786400-67809200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:67790400-67810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
10	chr14:67796400-67807600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:67796600-67807200	Strong transcription	HSMM	muscle
12	chr14:67796800-67807600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:67797000-67806400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:67797000-67807200	Strong transcription	Fetal Thymus	thymus
15	chr14:67797000-67820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:67797200-67807400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr14:67797400-67807200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:67797400-67807200	Strong transcription	Fetal Intestine Large	intestine
19	chr14:67797400-67807400	Strong transcription	Placenta	Placenta
20	chr14:67797400-67807400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:67797600-67807200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:67797600-67807400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:67797600-67807400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:67797600-67807400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:67797600-67807400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:67797600-67807400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:67797600-67807400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:67797600-67807400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:67797600-67807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:67797600-67808000	Strong transcription	Adipose Nuclei	Adipose
31	chr14:67797800-67807400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:67798000-67807200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr14:67798000-67807400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:67798200-67807200	Strong transcription	Liver	Liver
35	chr14:67798200-67807200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:67798200-67807200	Strong transcription	NHDF-Ad	bronchial
37	chr14:67798200-67807400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:67798200-67807400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr14:67798200-67807400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:67798200-67807400	Strong transcription	GM12878-XiMat	blood
41	chr14:67798400-67806600	Strong transcription	Brain Hippocampus Middle	brain
42	chr14:67798400-67807000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:67798400-67807200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:67798400-67807200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:67798400-67807400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:67798400-67807400	Strong transcription	Dnd41	blood
47	chr14:67798400-67807400	Strong transcription	Hela-S3	cervix
48	chr14:67798400-67819400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:67798400-67820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:67798600-67807200	Strong transcription	Primary B cells from cord blood	blood

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