Variant report

Variant	nsv889135
Chromosome Location	chr7:124462081-124584834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1177)
CpG islands
(count:976)
Chromatin interactive
region (count:65)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:124475378-124475473	K562	blood:	n/a	n/a
2	ARID3A	chr7:124479750-124480129	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:124496286-124496702	K562	blood:	n/a	chr7:124496382-124496398
4	ARID3A	chr7:124496343-124496696	HepG2	liver:	n/a	chr7:124496382-124496398
5	ARID3A	chr7:124569498-124570414	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:124480552-124480789	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:124569744-124570422	K562	blood:	n/a	n/a
8	ATF1	chr7:124547598-124547886	K562	blood:	n/a	n/a
9	ATF1	chr7:124569485-124570398	K562	blood:	n/a	n/a
10	ATF1	chr7:124581503-124581757	K562	blood:	n/a	n/a
11	ATF1	chr7:124570984-124571240	K562	blood:	n/a	n/a
12	ATF2	chr7:124533021-124534035	GM12878	blood:	n/a	n/a
13	ATF2	chr7:124569554-124570221	GM12878	blood:	n/a	chr7:124569893-124569904
14	ATF2	chr7:124558506-124559165	GM12878	blood:	n/a	n/a
15	ATF2	chr7:124569670-124570211	H1-hESC	embryonic stem cell:	n/a	chr7:124569893-124569904
16	ATF2	chr7:124569664-124570198	H1-hESC	embryonic stem cell:	n/a	chr7:124569893-124569904
17	ATF2	chr7:124569305-124570360	GM12878	blood:	n/a	chr7:124569893-124569904
18	ATF2	chr7:124533127-124533673	GM12878	blood:	n/a	n/a
19	ATF2	chr7:124558530-124559112	GM12878	blood:	n/a	n/a
20	ATF3	chr7:124569768-124570050	HepG2	liver:	n/a	chr7:124569883-124569903 chr7:124569892-124569902 chr7:124569891-124569906 chr7:124569893-124569904 chr7:124569894-124569905 chr7:124569891-124569904 chr7:124569894-124569902 chr7:124569895-124569902 chr7:124569895-124569903
21	ATF3	chr7:124569583-124570303	A549	lung:	n/a	chr7:124569883-124569903 chr7:124569892-124569902 chr7:124569891-124569906 chr7:124569893-124569904 chr7:124569894-124569905 chr7:124569891-124569904 chr7:124569894-124569902 chr7:124569895-124569902 chr7:124569895-124569903
22	ATF3	chr7:124569717-124570123	K562	blood:	n/a	chr7:124569883-124569903 chr7:124569892-124569902 chr7:124569891-124569906 chr7:124569893-124569904 chr7:124569894-124569905 chr7:124569891-124569904 chr7:124569894-124569902 chr7:124569895-124569902 chr7:124569895-124569903
23	ATF3	chr7:124569622-124570250	K562	blood:	n/a	chr7:124569883-124569903 chr7:124569892-124569902 chr7:124569891-124569906 chr7:124569893-124569904 chr7:124569894-124569905 chr7:124569891-124569904 chr7:124569894-124569902 chr7:124569895-124569902 chr7:124569895-124569903
24	BACH1	chr7:124484942-124484968	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr7:124569540-124569970	K562	blood:	n/a	n/a
26	BACH1	chr7:124569663-124570188	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr7:124490304-124490368	K562	blood:	n/a	n/a
28	BATF	chr7:124558745-124559050	GM12878	blood:	n/a	n/a
29	BATF	chr7:124533179-124533530	GM12878	blood:	n/a	chr7:124533362-124533372
30	BATF	chr7:124558692-124559112	GM12878	blood:	n/a	n/a
31	BATF	chr7:124533246-124533843	GM12878	blood:	n/a	chr7:124533362-124533372
32	BCL11A	chr7:124533121-124533611	GM12878	blood:	n/a	n/a
33	BCL11A	chr7:124558754-124559082	GM12878	blood:	n/a	n/a
34	BCL3	chr7:124533131-124533577	GM12878	blood:	n/a	n/a
35	BCLAF1	chr7:124533247-124533646	GM12878	blood:	n/a	n/a
36	BCLAF1	chr7:124569863-124570442	K562	blood:	n/a	chr7:124570126-124570135
37	BCLAF1	chr7:124569511-124570294	GM12878	blood:	n/a	chr7:124570126-124570135
38	BHLHE40	chr7:124554502-124554557	GM12878	blood:	n/a	n/a
39	BHLHE40	chr7:124569400-124570154	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:124569453-124570339	K562	blood:	n/a	n/a
41	BRCA1	chr7:124569623-124570229	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr7:124464034-124464060	GM12878	blood:	n/a	n/a
43	BRCA1	chr7:124569820-124570110	HepG2	liver:	n/a	n/a
44	BRCA1	chr7:124569630-124570391	Hela-S3	cervix:	n/a	n/a
45	CBX3	chr7:124569517-124570429	K562	blood:	n/a	n/a
46	CBX3	chr7:124569488-124570445	HCT-116	colon:	n/a	n/a
47	CBX3	chr7:124581318-124581885	K562	blood:	n/a	n/a
48	CBX3	chr7:124569430-124570486	K562	blood:	n/a	n/a
49	CBX3	chr7:124569459-124570397	HCT-116	colon:	n/a	n/a
50	CCNT2	chr7:124569447-124570291	K562	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:124570081-124570131	Hepatocyte	liver:	n/a
2	chr7:124571219-124571269	U87	brain:	n/a
3	chr7:124570130-124570180	NB4	blood:	n/a
4	chr7:124536676-124536726	HL-60	blood:	n/a
5	chr7:124570059-124570109	AG04449	skin:	fetal
6	chr7:124571219-124571269	NHBE	bronchial:	n/a
7	chr7:124565947-124565997	HCM	heart:	n/a
8	chr7:124571219-124571269	PrEC	prostate:	n/a
9	chr7:124570059-124570109	NHBE	bronchial:	n/a
10	chr7:124536676-124536726	HCT-116	colon:	n/a
11	chr7:124565947-124565997	SK-N-SH	brain:	n/a
12	chr7:124565947-124565997	HMEC	breast:	n/a
13	chr7:124463149-124463199	SKMC	muscle:	n/a
14	chr7:124570053-124570103	ovcar-3	ovarian:	n/a
15	chr7:124569713-124569763	PFSK-1	brain:	n/a
16	chr7:124463149-124463199	HAEpiC	amniotic membrane:	n/a
17	chr7:124570047-124570097	PFSK-1	brain:	n/a
18	chr7:124570047-124570097	NHDF-neo	bronchial:	n/a
19	chr7:124570059-124570109	HCPEpiC	choroid plexus:	n/a
20	chr7:124570053-124570103	SK-N-SH_RA	brain:	n/a
21	chr7:124569883-124569933	SK-N-SH	brain:	n/a
22	chr7:124463149-124463199	AG04449	skin:	fetal
23	chr7:124498272-124498322	BE2_C	brain:	n/a
24	chr7:124536676-124536726	MCF10A-Er-Src	breast:	n/a
25	chr7:124570081-124570131	AG04449	skin:	fetal
26	chr7:124570130-124570180	SK-N-MC	brain:	n/a
27	chr7:124565947-124565997	NHDF-neo	bronchial:	n/a
28	chr7:124569883-124569933	AG09309	skin:	n/a
29	chr7:124569713-124569763	SK-N-SH_RA	brain:	n/a
30	chr7:124536676-124536726	SAEC	small airway:	n/a
31	chr7:124570130-124570180	HAEpiC	amniotic membrane:	n/a
32	chr7:124570181-124570231	HCM	heart:	n/a
33	chr7:124570359-124570409	HCPEpiC	choroid plexus:	n/a
34	chr7:124570359-124570409	H1-hESC	embryonic stem cell:	embryo
35	chr7:124574073-124574123	BE2_C	brain:	n/a
36	chr7:124570053-124570103	SKMC	muscle:	n/a
37	chr7:124570053-124570103	Jurkat	blood:	n/a
38	chr7:124570359-124570409	GM12878	blood:	n/a
39	chr7:124569883-124569933	BE2_C	brain:	n/a
40	chr7:124570181-124570231	SK-N-SH	brain:	n/a
41	chr7:124565947-124565997	AG04449	skin:	fetal
42	chr7:124569713-124569763	PANC-1	pancreas:	n/a
43	chr7:124536676-124536726	NB4	blood:	n/a
44	chr7:124570059-124570109	PANC-1	pancreas:	n/a
45	chr7:124574073-124574123	HIPEpiC	eye:	n/a
46	chr7:124570181-124570231	ovcar-3	ovarian:	n/a
47	chr7:124571219-124571269	MCF10A-Er-Src	breast:	n/a
48	chr7:124570359-124570409	PFSK-1	brain:	n/a
49	chr7:124570059-124570109	Caco-2	colon:	n/a
50	chr7:124565947-124565997	AG04450	lung:	fetal

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:123383491..123385633-chr7:124494665..124496750,2	K562	blood:
2	chr7:123795289..123796073-chr7:124496029..124496841,2	MCF-7	breast:
3	chr7:124559701..124562289-chr7:124568548..124571040,2	K562	blood:
4	chr7:124546480..124548936-chr7:124561383..124564382,2	K562	blood:
5	chr7:124550905..124554322-chr7:124566903..124570128,4	K562	blood:
6	chr7:124524737..124527454-chr7:124559196..124561248,2	K562	blood:
7	chr7:124495485..124496005-chr7:124636684..124637532,2	MCF-7	breast:
8	chr7:124570250..124573246-chr7:124575640..124577419,2	K562	blood:
9	chr7:124534351..124537236-chr7:124567413..124569702,2	K562	blood:
10	chr7:124537777..124539651-chr7:124561497..124564089,2	K562	blood:
11	chr7:124551396..124553692-chr7:124554817..124557525,2	K562	blood:
12	chr7:124522245..124524955-chr7:124533723..124536178,2	K562	blood:
13	chr7:124549176..124550827-chr7:124558825..124561252,2	K562	blood:
14	chr7:124481779..124483829-chr7:124493463..124496248,2	K562	blood:
15	chr7:124522245..124524955-chr7:124533723..124536178,2	K562	blood:
16	chr7:124523248..124524832-chr7:124524843..124527299,2	K562	blood:
17	chr7:124521370..124523136-chr7:124567552..124569550,2	K562	blood:
18	chr7:124521370..124523136-chr7:124567552..124569550,2	K562	blood:
19	chr7:124535840..124537776-chr7:124559363..124562041,2	K562	blood:
20	chr7:124523515..124526179-chr7:124527945..124529532,2	MCF-7	breast:
21	chr7:124534351..124537236-chr7:124567413..124569702,2	K562	blood:
22	chr7:124568199..124570049-chr7:127030538..127032262,2	K562	blood:
23	chr7:124558834..124561175-chr7:124980135..124981921,2	K562	blood:
24	chr7:124520545..124522828-chr7:124555215..124557862,2	K562	blood:
25	chr7:123795257..123796091-chr7:124480511..124481123,2	MCF-7	breast:
26	chr7:124482329..124484831-chr7:124493791..124496248,2	K562	blood:
27	chr7:124557098..124558767-chr7:124568438..124571328,3	K562	blood:
28	chr7:124504726..124507196-chr7:124509584..124511156,2	K562	blood:
29	chr7:124514345..124516702-chr7:124522638..124525470,2	K562	blood:
30	chr7:124477564..124479634-chr7:124483679..124485417,2	K562	blood:
31	chr7:124560803..124563318-chr7:124567698..124570085,3	K562	blood:
32	chr7:124502317..124504649-chr7:124506280..124507789,2	K562	blood:
33	chr7:124485031..124486587-chr7:124492605..124494106,2	MCF-7	breast:
34	chr7:124509328..124512200-chr7:124525165..124526701,2	K562	blood:
35	chr7:124537777..124539651-chr7:124561497..124564089,2	K562	blood:
36	chr7:124518995..124522486-chr7:124524978..124527724,3	K562	blood:
37	chr7:124559307..124561381-chr7:124633111..124635066,2	MCF-7	breast:
38	chr7:124551396..124553692-chr7:124554817..124557525,2	K562	blood:
39	chr7:124518995..124522486-chr7:124524978..124527724,3	K562	blood:
40	chr7:124523515..124526179-chr7:124527945..124529532,2	MCF-7	breast:
41	chr7:123792601..123793517-chr7:124480532..124481197,4	MCF-7	breast:
42	chr7:124509328..124512200-chr7:124525165..124526701,2	K562	blood:
43	chr7:124504726..124507196-chr7:124509584..124511156,2	K562	blood:
44	chr7:124481779..124483829-chr7:124493463..124496248,2	K562	blood:
45	chr7:124546480..124548936-chr7:124561383..124564382,2	K562	blood:
46	chr7:124570010..124572071-chr7:124632097..124634842,3	MCF-7	breast:
47	chr7:124549176..124550827-chr7:124558825..124561252,2	K562	blood:
48	chr1:109203393..109204157-chr7:124570156..124570737,2	NB4	blood:
49	chr7:124404262..124405820-chr7:124460422..124463295,2	K562	blood:
50	chr7:124520545..124522828-chr7:124555215..124557862,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-4	chr7:124580334-124580439	ENSG00000224897
2	lnc-GPR37-2	chr7:124569512-124569856	NONHSAT123087
3	lnc-SPAM1-4	chr7:124565824-124565949	l_3475_chr7:124565823-124571862_testes
4	lnc-SPAM1-4	chr7:124569973-124570070	NONHSAT123092
5	lnc-SPAM1-4	chr7:124570005-124572498	l_3475_chr7:124565823-124571862_testes
6	lnc-SPAM1-4	chr7:124580334-124580439	NONHSAT123092
7	lnc-GPR37-2	chr7:124555628-124555700	NONHSAT123087
8	lnc-GPR37-2	chr7:124569613-124569840	NONHSAT123088
9	lnc-SPAM1-4	chr7:124569975-124570070	ENSG00000224897
10	lnc-SPAM1-4	chr7:124580334-124580439	ENSG00000224897
11	lnc-SPAM1-4	chr7:124569952-124570070	ENSG00000224897
12	lnc-GPR37-2	chr7:124568975-124569053	NONHSAT123088
13	lnc-SPAM1-4	chr7:124569927-124570070	ENSG00000224897
14	lnc-SPAM1-4	chr7:124580334-124580439	ENSG00000224897
15	lnc-SPAM1-4	chr7:124580334-124580439	ENSG00000224897
16	lnc-SPAM1-4	chr7:124569969-124570070	ENSG00000224897
17	lnc-GPR37-2	chr7:124568869-124569053	NONHSAT123087
18	lnc-GPR37-2	chr7:124538315-124538428	NONHSAT123087

No data

Variant related genes	Relation type
POT1-AS1	TF binding region
POT1	TF binding region
POT1-AS1	CpG island
POT1	CpG island
ENSG00000048405	chromatin interactions
ENSG00000170775	chromatin interactions
ENSG00000124783	chromatin interactions
ENSG00000128513	chromatin interactions
ENSG00000162639	chromatin interactions
ENSG00000224897	chromatin interactions
CCDC6	miRNA target sites
ODAM	miRNA target sites
IL1RAP	miRNA target sites
UCK1	miRNA target sites
BAHCC1	miRNA target sites
AXL	miRNA target sites
FIGN	miRNA target sites
ZNHIT1	miRNA target sites

Extended variants
information (count: 4388 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:4388 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs727505	chr7:124462081-124462082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs575896776	chr7:124462088-124462089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34765457	chr7:124462130-124462131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35028211	chr7:124462155-124462156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371888185	chr7:124462193-124462194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573116208	chr7:124462235-124462236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538697730	chr7:124462237-124462238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558689434	chr7:124462297-124462298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148739261	chr7:124462388-124462389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75558173	chr7:124462391-124462392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575148932	chr7:124462392-124462393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76846113	chr7:124462393-124462394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182894575	chr7:124462394-124462395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572841207	chr7:124462405-124462406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554583130	chr7:124462423-124462424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574227671	chr7:124462443-124462444	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543350821	chr7:124462497-124462498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537858943	chr7:124462509-124462510	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187584000	chr7:124462545-124462546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370988165	chr7:124462571-124462572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192260864	chr7:124462584-124462585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528668733	chr7:124462600-124462601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544668410	chr7:124462617-124462618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545050832	chr7:124462622-124462623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144505427	chr7:124462644-124462645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76436625	chr7:124462655-124462656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs17246404	chr7:124462661-124462662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
28	rs567700636	chr7:124462669-124462670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529937671	chr7:124462749-124462750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62478915	chr7:124462757-124462758	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544417496	chr7:124462771-124462772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372029809	chr7:124462807-124462808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182611577	chr7:124462836-124462837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188417479	chr7:124462852-124462853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566622005	chr7:124462882-124462883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145430924	chr7:124462950-124462951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558650912	chr7:124462992-124462993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149221680	chr7:124462996-124462997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530211997	chr7:124463018-124463019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370558081	chr7:124463051-124463052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556472264	chr7:124463068-124463069	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574413408	chr7:124463099-124463100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577952047	chr7:124463111-124463112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542870408	chr7:124463116-124463117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35001526	chr7:124463224-124463225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs35088896	chr7:124463256-124463257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553252116	chr7:124463349-124463350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573070405	chr7:124463382-124463383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545185105	chr7:124463384-124463385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369318133	chr7:124463392-124463393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myxofibrosarcoma	20639860	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1675 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124445000-124463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124450800-124467000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:124451400-124463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:124451600-124466600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:124452800-124475000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:124454400-124463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:124454400-124463000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:124454400-124497600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:124454600-124463800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:124454600-124501400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:124457600-124497600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:124458600-124462200	Weak transcription	Primary B cells from cord blood	blood
13	chr7:124458800-124462200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:124458800-124462200	Weak transcription	Fetal Lung	lung
15	chr7:124458800-124463600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:124459000-124462400	Weak transcription	Primary T cells from cord blood	blood
17	chr7:124459000-124463600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:124459000-124463800	Weak transcription	Left Ventricle	heart
19	chr7:124459000-124463800	Weak transcription	GM12878-XiMat	blood
20	chr7:124459000-124497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:124459200-124462600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:124459200-124467600	Weak transcription	Esophagus	oesophagus
23	chr7:124459200-124469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:124459200-124497600	Weak transcription	Pancreas	Pancrea
25	chr7:124459200-124499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:124459400-124463000	Weak transcription	Fetal Thymus	thymus
27	chr7:124459400-124497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:124459400-124497600	Weak transcription	Brain Anterior Caudate	brain
29	chr7:124459600-124462200	Weak transcription	Dnd41	blood
30	chr7:124459600-124462400	Weak transcription	HSMM	muscle
31	chr7:124459600-124463200	Weak transcription	Ovary	ovary
32	chr7:124460200-124463200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:124460200-124463800	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:124460200-124463800	Weak transcription	HUVEC	blood vessel
35	chr7:124460200-124465800	Weak transcription	NH-A	brain
36	chr7:124460200-124466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:124460200-124483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:124460400-124463000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:124460400-124463000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:124460400-124488600	Weak transcription	HSMMtube	muscle
41	chr7:124460600-124462200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:124460600-124462200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:124460600-124462200	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:124460600-124462200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:124460600-124462200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:124460600-124462600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:124460600-124462600	Weak transcription	Fetal Intestine Large	intestine
48	chr7:124460600-124463800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:124460600-124486200	Weak transcription	Brain Substantia Nigra	brain
50	chr7:124460800-124476200	Weak transcription	Fetal Brain Male	brain

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