Variant report

Variant	nsv879843
Chromosome Location	chr4:120326323-120502461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2102)
CpG islands
(count:1283)
Chromatin interactive
region (count:56)
LncRNA
region (count:96)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2102 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120425516-120426323	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:120399782-120400241	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:120480278-120480521	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:120464380-120464644	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:120422798-120423435	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:120375657-120375939	K562	blood:	n/a	n/a
7	ARID3A	chr4:120446197-120447155	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:120375640-120376007	HepG2	liver:	n/a	n/a
9	ATF1	chr4:120375410-120376174	K562	blood:	n/a	n/a
10	ATF2	chr4:120375574-120376077	H1-hESC	embryonic stem cell:	n/a	chr4:120375758-120375769
11	ATF2	chr4:120375508-120376132	GM12878	blood:	n/a	chr4:120375758-120375769
12	ATF2	chr4:120375555-120376037	GM12878	blood:	n/a	chr4:120375758-120375769
13	ATF2	chr4:120375554-120376118	H1-hESC	embryonic stem cell:	n/a	chr4:120375758-120375769
14	ATF3	chr4:120375689-120376103	HepG2	liver:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
15	ATF3	chr4:120375697-120376130	H1-hESC	embryonic stem cell:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
16	ATF3	chr4:120376142-120376354	K562	blood:	n/a	n/a
17	ATF3	chr4:120375643-120376128	GM12878	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
18	ATF3	chr4:120375585-120375981	A549	lung:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
19	ATF3	chr4:120375667-120376101	K562	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
20	ATF3	chr4:120375748-120376028	GM12878	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
21	ATF3	chr4:120375591-120376108	K562	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
22	ATF3	chr4:120375570-120376147	H1-hESC	embryonic stem cell:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
23	ATF3	chr4:120375534-120376115	HepG2	liver:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
24	BACH1	chr4:120375824-120376166	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr4:120383430-120383818	GM12878	blood:	n/a	n/a
26	BATF	chr4:120375371-120376260	GM12878	blood:	n/a	n/a
27	BATF	chr4:120377964-120378201	GM12878	blood:	n/a	n/a
28	BATF	chr4:120377931-120378220	GM12878	blood:	n/a	n/a
29	BATF	chr4:120336031-120336269	GM12878	blood:	n/a	n/a
30	BATF	chr4:120391177-120391503	GM12878	blood:	n/a	chr4:120391372-120391382
31	BATF	chr4:120383409-120383814	GM12878	blood:	n/a	n/a
32	BATF	chr4:120391156-120391506	GM12878	blood:	n/a	chr4:120391372-120391382
33	BCL11A	chr4:120383416-120384004	GM12878	blood:	n/a	chr4:120383850-120383859
34	BCL11A	chr4:120378027-120378298	GM12878	blood:	n/a	n/a
35	BCL11A	chr4:120391181-120391514	GM12878	blood:	n/a	chr4:120391371-120391380
36	BCL11A	chr4:120375469-120376323	GM12878	blood:	n/a	n/a
37	BCL11A	chr4:120375997-120376209	GM12878	blood:	n/a	n/a
38	BCL3	chr4:120375586-120376104	A549	lung:	n/a	n/a
39	BCLAF1	chr4:120375555-120376089	GM12878	blood:	n/a	n/a
40	BCLAF1	chr4:120375644-120376123	GM12878	blood:	n/a	n/a
41	BHLHE40	chr4:120461483-120461719	GM12878	blood:	n/a	n/a
42	BHLHE40	chr4:120433767-120433871	K562	blood:	n/a	n/a
43	BHLHE40	chr4:120375666-120376228	K562	blood:	n/a	n/a
44	BHLHE40	chr4:120375682-120376067	GM12878	blood:	n/a	n/a
45	BRCA1	chr4:120375681-120376092	HepG2	liver:	n/a	n/a
46	BRCA1	chr4:120375657-120376065	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr4:120375670-120376051	GM12878	blood:	n/a	n/a
48	BRCA1	chr4:120375591-120376075	Hela-S3	cervix:	n/a	n/a
49	CBX3	chr4:120375690-120376086	HCT-116	colon:	n/a	n/a
50	CBX3	chr4:120375579-120376037	K562	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120419485-120419535	CMK	blood:	n/a
2	chr4:120329925-120329975	AG10803	skin:	n/a
3	chr4:120419485-120419535	CMK	blood:	n/a
4	chr4:120329925-120329975	AG10803	skin:	n/a
5	chr4:120327182-120327232	GM12892	blood:	n/a
6	chr4:120327182-120327232	U87	brain:	n/a
7	chr4:120328025-120328075	Hela-S3	cervix:	n/a
8	chr4:120373434-120373484	HUVEC	blood vessel:	n/a
9	chr4:120329925-120329975	LNCaP	prostate:	n/a
10	chr4:120493308-120493358	MCF10A-Er-Src	breast:	n/a
11	chr4:120448071-120448121	Jurkat	blood:	n/a
12	chr4:120375409-120375459	HEEpiC	esophagus:	n/a
13	chr4:120373434-120373484	A549	lung:	n/a
14	chr4:120375409-120375459	ECC-1	luminal epithelium:	n/a
15	chr4:120502068-120502118	GM12891	blood:	n/a
16	chr4:120328025-120328075	AG04449	skin:	fetal
17	chr4:120428634-120428684	SK-N-SH	brain:	n/a
18	chr4:120448071-120448121	GM12891	blood:	n/a
19	chr4:120327624-120327674	NHBE	bronchial:	n/a
20	chr4:120375409-120375459	HMEC	breast:	n/a
21	chr4:120502068-120502118	HNPCEpiC	eye:	n/a
22	chr4:120493308-120493358	GM12892	blood:	n/a
23	chr4:120329925-120329975	SK-N-MC	brain:	n/a
24	chr4:120376271-120376321	HIPEpiC	eye:	n/a
25	chr4:120376055-120376105	HL-60	blood:	n/a
26	chr4:120465302-120465352	HCT-116	colon:	n/a
27	chr4:120327182-120327232	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:120428634-120428684	GM06990	blood:	n/a
29	chr4:120465302-120465352	GM19239	blood:	n/a
30	chr4:120472195-120472245	SK-N-SH	brain:	n/a
31	chr4:120493308-120493358	NHBE	bronchial:	n/a
32	chr4:120376271-120376321	AG10803	skin:	n/a
33	chr4:120373434-120373484	AG10803	skin:	n/a
34	chr4:120327624-120327674	SAEC	small airway:	n/a
35	chr4:120375747-120375797	PANC-1	pancreas:	n/a
36	chr4:120329925-120329975	A549	lung:	n/a
37	chr4:120375747-120375797	PFSK-1	brain:	n/a
38	chr4:120329925-120329975	AG04449	skin:	fetal
39	chr4:120433619-120433669	Hepatocyte	liver:	n/a
40	chr4:120329925-120329975	H1-hESC	embryonic stem cell:	embryo
41	chr4:120419485-120419535	HUVEC	blood vessel:	n/a
42	chr4:120502068-120502118	HepG2	liver:	n/a
43	chr4:120376055-120376105	NHDF-neo	bronchial:	n/a
44	chr4:120375997-120376047	ovcar-3	ovarian:	n/a
45	chr4:120375409-120375459	GM06990	blood:	n/a
46	chr4:120327624-120327674	HepG2	liver:	n/a
47	chr4:120439736-120439786	PANC-1	pancreas:	n/a
48	chr4:120502068-120502118	LNCaP	prostate:	n/a
49	chr4:120378622-120378672	AG10803	skin:	n/a
50	chr4:120433619-120433669	Caco-2	colon:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:120442217..120444680-chr4:120461087..120463839,2	K562	blood:
2	chr4:120451404..120453710-chr4:120455782..120457954,2	MCF-7	breast:
3	chr4:120401525..120403278-chr4:120407490..120410209,2	MCF-7	breast:
4	chr4:120451722..120454309-chr4:120472350..120475109,2	K562	blood:
5	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
6	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
7	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
8	chr4:120427480..120429953-chr4:120431995..120434202,3	K562	blood:
9	chr4:120461776..120463313-chr4:120464318..120466484,2	K562	blood:
10	chr4:120431676..120434490-chr4:120437261..120440193,2	K562	blood:
11	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
12	chr4:120430071..120433986-chr4:120435294..120438761,4	K562	blood:
13	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
14	chr4:120132920..120134685-chr4:120374052..120375829,2	K562	blood:
15	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
16	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:
17	chr4:120132920..120134685-chr4:120374052..120375829,3	K562	blood:
18	chr13:41344913..41345600-chr4:120457409..120458239,2	MCF-7	breast:
19	chr4:120417192..120419085-chr4:120422435..120424125,2	K562	blood:
20	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
21	chr4:120221978..120223635-chr4:120393077..120397275,3	K562	blood:
22	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
23	chr4:120485362..120487909-chr4:120507957..120510627,2	K562	blood:
24	chr4:120451404..120453710-chr4:120455782..120457954,2	MCF-7	breast:
25	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
26	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
27	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:
28	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
29	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
30	chr4:120451722..120454309-chr4:120472350..120475109,2	K562	blood:
31	chr4:120447620..120450408-chr4:120454969..120457330,2	K562	blood:
32	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
33	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
34	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:
35	chr4:120235248..120235905-chr4:120414247..120414953,2	MCF-7	breast:
36	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:
37	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
38	chr4:120461776..120463313-chr4:120464318..120466484,2	K562	blood:
39	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
40	chr4:120426318..120428351-chr4:120986302..120988038,2	K562	blood:
41	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
42	chr4:120415639..120417290-chr4:120441000..120443323,2	K562	blood:
43	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
44	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
45	chr4:120452049..120454264-chr4:120457306..120459994,2	K562	blood:
46	chr4:120417192..120419085-chr4:120422435..120424125,2	K562	blood:
47	chr4:120479940..120480779-chr4:120548493..120549108,2	MCF-7	breast:
48	chr4:120428240..120430118-chr4:120439870..120442381,2	K562	blood:
49	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
50	chr4:120456752..120459407-chr4:120463554..120465476,2	K562	blood:

(count:96 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-8	chr4:120473043-120473179	NONHSAT098085
2	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098092
3	lnc-AC110373.1-8	chr4:120381367-120381397	NONHSAT098079
4	lnc-AC110373.1-8	chr4:120409800-120409872	NONHSAT098084
5	lnc-AC110373.1-8	chr4:120400981-120401660	NONHSAT098084
6	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT147298
7	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT147298
8	lnc-AC110373.1-8	chr4:120415620-120415678	NONHSAT098087
9	lnc-AC110373.1-8	chr4:120381811-120381982	NONHSAT098081
10	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT098090
11	lnc-AC110373.1-8	chr4:120464908-120465044	NONHSAT098092
12	lnc-AC110373.1-8	chr4:120382872-120383006	NONHSAT098079
13	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098085
14	lnc-AC110373.1-8	chr4:120418817-120419182	NONHSAT098087
15	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098085
16	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098082
17	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098089
18	lnc-AC110373.1-8	chr4:120382872-120383006	NONHSAT098082
19	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098090
20	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT098079
21	lnc-AC110373.1-8	chr4:120381592-120381982	NONHSAT098080
22	lnc-AC110373.1-8	chr4:120464908-120465000	NONHSAT147298
23	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098091
24	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098090
25	lnc-AC110373.1-2	chr4:120330488-120331388	ENSG00000260091.1
26	lnc-AC110373.1-3	chr4:120377505-120377592	ENSG00000250950.1
27	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098079
28	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT147298
29	lnc-AC110373.1-8	chr4:120473043-120473178	NONHSAT098089
30	lnc-AC110373.1-8	chr4:120384051-120384134	NONHSAT098079
31	lnc-AC110373.1-8	chr4:120382872-120383019	NONHSAT098078
32	lnc-PDE5A-3	chr4:120361716-120361790	NONHSAT098064
33	lnc-AC110373.1-8	chr4:120395771-120396293	NONHSAT098084
34	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT147298
35	lnc-AC110373.1-8	chr4:120396336-120396357	NONHSAT098084
36	lnc-AC110373.1-8	chr4:120402929-120403580	NONHSAT098084
37	lnc-AC110373.1-8	chr4:120433927-120434125	NONHSAT098092
38	lnc-AC110373.1-8	chr4:120399034-120399542	NONHSAT098084
39	lnc-AC110373.1-8	chr4:120464908-120465000	NONHSAT098085
40	lnc-AC110373.1-8	chr4:120420716-120420848	NONHSAT098081
41	lnc-AC110373.1-8	chr4:120473043-120473180	NONHSAT098095
42	lnc-AC110373.1-8	chr4:120433506-120433665	NONHSAT098079
43	lnc-AC110373.1-2	chr4:120330489-120331408	NONHSAT098058
44	lnc-AC110373.1-8	chr4:120381898-120381975	NONHSAT098078
45	lnc-PDE5A-3	chr4:120371197-120371312	NONHSAT098064
46	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098082
47	lnc-AC110373.1-8	chr4:120415641-120415678	NONHSAT147297
48	lnc-PDE5A-3	chr4:120370725-120371280	NONHSAT098065
49	lnc-AC110373.1-8	chr4:120440644-120440721	NONHSAT098086
50	lnc-PDE5A-3	chr4:120375401-120375783	NONHSAT098065

No data

Variant related genes	Relation type
ENSG00000260091	TF binding region
RNU6-1217P	TF binding region
ENSG00000250950	TF binding region
ENSG00000221245	TF binding region
ENSG00000248280	TF binding region
PDE5A	TF binding region
ENSG00000245958	TF binding region
ENSG00000260091	CpG island
RNU6-1217P	CpG island
ENSG00000250950	CpG island
ENSG00000221245	CpG island
ENSG00000248280	CpG island
PDE5A	CpG island
ENSG00000245958	CpG island
ENSG00000245958	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000150961	chromatin interactions
ENSG00000164096	chromatin interactions
ENSG00000138735	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000102738	chromatin interactions
ENSG00000178636	chromatin interactions

Extended variants
information (count: 6380 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:6380 , 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	rs6846442	chr4:120326323-120326324	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557243051	chr4:120326334-120326335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576913856	chr4:120326351-120326352	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563351147	chr4:120326354-120326355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545854087	chr4:120326400-120326401	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6846620	chr4:120326404-120326405	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs573010900	chr4:120326447-120326448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144653160	chr4:120326455-120326456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562331984	chr4:120326469-120326470	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530963286	chr4:120326510-120326511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191322491	chr4:120326525-120326526	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536996851	chr4:120326533-120326534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370868020	chr4:120326538-120326539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371415006	chr4:120326545-120326546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376166145	chr4:120326550-120326551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545755080	chr4:120326557-120326558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564481277	chr4:120326597-120326598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533444895	chr4:120326598-120326599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71610279	chr4:120326643-120326644	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs71610280	chr4:120326648-120326649	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs529403157	chr4:120326661-120326662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548019759	chr4:120326669-120326670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9799664	chr4:120326678-120326679	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs72918577	chr4:120326701-120326702	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs79446934	chr4:120326713-120326714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs77299866	chr4:120326716-120326717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs539474186	chr4:120326717-120326718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539721540	chr4:120326740-120326741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72489565	chr4:120326819-120326820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs572724615	chr4:120326845-120326846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535542094	chr4:120326875-120326876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115044484	chr4:120326887-120326888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs575288460	chr4:120326913-120326914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544450968	chr4:120326922-120326923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564319656	chr4:120326930-120326931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9996586	chr4:120326942-120326943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540489250	chr4:120326971-120326972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560135540	chr4:120327027-120327028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142609610	chr4:120327032-120327033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs549462614	chr4:120327051-120327052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562879252	chr4:120327063-120327064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372821205	chr4:120327068-120327069	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531826432	chr4:120327073-120327074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550821123	chr4:120327079-120327080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10019309	chr4:120327085-120327086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs539768268	chr4:120327092-120327093	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546872502	chr4:120327103-120327104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566475188	chr4:120327105-120327106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187857295	chr4:120327118-120327119	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192765835	chr4:120327166-120327167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	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
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2876 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120318000-120333400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:120324200-120342200	Weak transcription	Pancreas	Pancrea
3	chr4:120324600-120328000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:120324600-120330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:120325000-120329800	Weak transcription	Liver	Liver
6	chr4:120325000-120331400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:120325000-120331800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:120325000-120341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:120325200-120334200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:120325600-120326600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:120325600-120326600	Strong transcription	Fetal Stomach	stomach
12	chr4:120326000-120327200	Strong transcription	Fetal Intestine Small	intestine
13	chr4:120326600-120329000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:120326600-120329800	Weak transcription	Fetal Stomach	stomach
15	chr4:120326600-120331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:120326600-120334400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:120326600-120360800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:120326800-120331600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:120327000-120327200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:120327000-120328600	Weak transcription	Lung	lung
21	chr4:120327000-120329800	Weak transcription	Gastric	stomach
22	chr4:120327200-120335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:120327200-120339200	Weak transcription	Esophagus	oesophagus
24	chr4:120327200-120361400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:120327800-120332000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:120328000-120329600	Enhancers	Placenta	Placenta
27	chr4:120328000-120330200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:120328200-120329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:120328200-120329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:120328600-120329000	Strong transcription	Lung	lung
31	chr4:120328800-120331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:120328800-120375200	Weak transcription	Ovary	ovary
33	chr4:120329000-120329800	Weak transcription	Lung	lung
34	chr4:120329200-120331400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:120329600-120330600	Genic enhancers	Placenta	Placenta
36	chr4:120329800-120330200	Strong transcription	Lung	lung
37	chr4:120329800-120330400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:120329800-120330400	Strong transcription	Gastric	stomach
39	chr4:120329800-120330600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:120329800-120330600	Strong transcription	Liver	Liver
41	chr4:120329800-120330600	Strong transcription	Fetal Stomach	stomach
42	chr4:120330000-120330600	Enhancers	Adipose Nuclei	Adipose
43	chr4:120330200-120332600	Weak transcription	Lung	lung
44	chr4:120330200-120367600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:120330400-120332000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:120330400-120333200	Weak transcription	Gastric	stomach
47	chr4:120330600-120331600	Weak transcription	Placenta	Placenta
48	chr4:120330600-120341400	Weak transcription	Adipose Nuclei	Adipose
49	chr4:120330600-120355400	Weak transcription	Liver	Liver
50	chr4:120330600-120365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links