Variant report

Variant	nsv1000178
Chromosome Location	chr4:77053046-77113080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1158)
CpG islands
(count:855)
Chromatin interactive
region (count:80)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1158 , 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	chr4:77069450-77069768	K562	blood:	n/a	n/a
2	ARID3A	chr4:77069028-77069034	K562	blood:	n/a	n/a
3	ARID3A	chr4:77101003-77101328	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:77068478-77068665	K562	blood:	n/a	n/a
5	ARID3A	chr4:77069430-77069797	HepG2	liver:	n/a	n/a
6	ATF1	chr4:77069431-77069856	K562	blood:	n/a	n/a
7	ATF2	chr4:77068637-77069112	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:77069361-77069931	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:77069344-77069833	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:77069361-77069972	GM12878	blood:	n/a	n/a
11	ATF2	chr4:77068660-77069202	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:77069305-77069941	GM12878	blood:	n/a	n/a
13	ATF3	chr4:77069348-77069849	A549	lung:	n/a	n/a
14	ATF3	chr4:77069306-77069911	A549	lung:	n/a	n/a
15	ATF3	chr4:77069433-77069872	K562	blood:	n/a	n/a
16	ATF3	chr4:77069420-77069698	K562	blood:	n/a	n/a
17	BACH1	chr4:77068703-77069963	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:77068641-77068982	K562	blood:	n/a	n/a
19	BACH1	chr4:77069202-77069449	K562	blood:	n/a	n/a
20	BATF	chr4:77069478-77069766	GM12878	blood:	n/a	n/a
21	BCL11A	chr4:77068834-77068981	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr4:77069356-77069851	A549	lung:	n/a	chr4:77069713-77069722
23	BCL3	chr4:77069307-77069882	A549	lung:	n/a	chr4:77069713-77069722
24	BCLAF1	chr4:77069138-77069924	K562	blood:	n/a	chr4:77069196-77069209 chr4:77069713-77069722
25	BCLAF1	chr4:77069018-77069913	GM12878	blood:	n/a	chr4:77069196-77069209 chr4:77069713-77069722
26	BCLAF1	chr4:77069305-77070018	GM12878	blood:	n/a	chr4:77069713-77069722
27	BCLAF1	chr4:77069305-77069906	K562	blood:	n/a	chr4:77069713-77069722
28	BHLHE40	chr4:77100881-77101351	K562	blood:	n/a	n/a
29	BHLHE40	chr4:77077888-77078045	K562	blood:	n/a	n/a
30	BHLHE40	chr4:77101045-77101275	GM12878	blood:	n/a	n/a
31	BHLHE40	chr4:77068918-77069948	K562	blood:	n/a	n/a
32	BHLHE40	chr4:77069399-77069930	GM12878	blood:	n/a	n/a
33	BRCA1	chr4:77069369-77069788	HepG2	liver:	n/a	n/a
34	BRCA1	chr4:77069442-77069955	GM12878	blood:	n/a	n/a
35	BRCA1	chr4:77101097-77101272	HepG2	liver:	n/a	n/a
36	BRCA1	chr4:77069038-77069869	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr4:77069412-77069889	H1-hESC	embryonic stem cell:	n/a	n/a
38	CBX3	chr4:77069322-77070029	K562	blood:	n/a	n/a
39	CBX3	chr4:77068738-77069292	K562	blood:	n/a	n/a
40	CBX3	chr4:77069415-77069817	K562	blood:	n/a	n/a
41	CCNT2	chr4:77068908-77069784	K562	blood:	n/a	chr4:77069052-77069061 chr4:77069005-77069014
42	CCNT2	chr4:77070228-77070323	K562	blood:	n/a	n/a
43	CEBPB	chr4:77103840-77103908	Hela-S3	cervix:	n/a	chr4:77103855-77103866 chr4:77103856-77103867
44	CEBPB	chr4:77068737-77069147	K562	blood:	n/a	n/a
45	CEBPB	chr4:77062401-77062714	K562	blood:	n/a	n/a
46	CEBPB	chr4:77069444-77069842	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr4:77068983-77069801	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr4:77076388-77076448	A549	lung:	n/a	n/a
49	CEBPB	chr4:77069379-77069795	K562	blood:	n/a	n/a
50	CEBPB	chr4:77069301-77070222	GM12878	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:77069145-77069195	NHDF-neo	bronchial:	n/a
2	chr4:77069145-77069195	NHDF-neo	bronchial:	n/a
3	chr4:77109195-77109245	AG04449	skin:	fetal
4	chr4:77067214-77067264	HRCEpiC	kidney:	n/a
5	chr4:77082402-77082452	HRE	kidney:	n/a
6	chr4:77069145-77069195	HRPEpiC	eye:	n/a
7	chr4:77109195-77109245	MCF-7	breast:	n/a
8	chr4:77082402-77082452	K562	blood:	n/a
9	chr4:77069145-77069195	NT2-D1	testis:	n/a
10	chr4:77069462-77069512	MCF10A-Er-Src	breast:	n/a
11	chr4:77069563-77069613	HepG2	liver:	n/a
12	chr4:77069573-77069623	ovcar-3	ovarian:	n/a
13	chr4:77069770-77069820	Hepatocyte	liver:	n/a
14	chr4:77069462-77069512	NB4	blood:	n/a
15	chr4:77109195-77109245	GM12892	blood:	n/a
16	chr4:77069568-77069618	K562	blood:	n/a
17	chr4:77069698-77069748	AG04449	skin:	fetal
18	chr4:77069671-77069721	PANC-1	pancreas:	n/a
19	chr4:77082402-77082452	NHBE	bronchial:	n/a
20	chr4:77069563-77069613	HCM	heart:	n/a
21	chr4:77069145-77069195	GM06990	blood:	n/a
22	chr4:77069770-77069820	NH-A	brain:	n/a
23	chr4:77082402-77082452	HIPEpiC	eye:	n/a
24	chr4:77070069-77070119	NB4	blood:	n/a
25	chr4:77082402-77082452	HCM	heart:	n/a
26	chr4:77067214-77067264	GM12892	blood:	n/a
27	chr4:77069145-77069195	SK-N-MC	brain:	n/a
28	chr4:77069671-77069721	HL-60	blood:	n/a
29	chr4:77082402-77082452	HUVEC	blood vessel:	n/a
30	chr4:77069573-77069623	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:77069770-77069820	NB4	blood:	n/a
32	chr4:77070069-77070119	BE2_C	brain:	n/a
33	chr4:77070069-77070119	ovcar-3	ovarian:	n/a
34	chr4:77070069-77070119	MCF10A-Er-Src	breast:	n/a
35	chr4:77069719-77069769	Hela-S3	cervix:	n/a
36	chr4:77069462-77069512	HIPEpiC	eye:	n/a
37	chr4:77069671-77069721	BJ	skin:	n/a
38	chr4:77069698-77069748	NT2-D1	testis:	n/a
39	chr4:77069462-77069512	LNCaP	prostate:	n/a
40	chr4:77069671-77069721	U87	brain:	n/a
41	chr4:77069563-77069613	HCF	heart:	n/a
42	chr4:77082402-77082452	GM12891	blood:	n/a
43	chr4:77069145-77069195	HMEC	breast:	n/a
44	chr4:77069671-77069721	HRE	kidney:	n/a
45	chr4:77067214-77067264	HRPEpiC	eye:	n/a
46	chr4:77069573-77069623	NH-A	brain:	n/a
47	chr4:77069145-77069195	BE2_C	brain:	n/a
48	chr4:77069462-77069512	H1-hESC	embryonic stem cell:	embryo
49	chr4:77067214-77067264	AG04450	lung:	fetal
50	chr4:77069563-77069613	NH-A	brain:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:77101090..77101653-chr4:77166939..77167466,2	MCF-7	breast:
2	chr4:77100761..77101387-chr4:77166867..77167817,2	MCF-7	breast:
3	chr4:77068157..77072103-chr4:77105294..77112080,6	K562	blood:
4	chr4:77057316..77058882-chr4:77066248..77068900,2	MCF-7	breast:
5	chr4:77102596..77104990-chr4:77105055..77107481,2	MCF-7	breast:
6	chr4:77100837..77101592-chr4:77342165..77343074,2	MCF-7	breast:
7	chr4:77056276..77058049-chr4:77058093..77060100,3	K562	blood:
8	chr4:77047745..77051558-chr4:77062903..77066801,7	K562	blood:
9	chr4:77065717..77067394-chr4:77069102..77070883,2	MCF-7	breast:
10	chr4:77070668..77073537-chr4:77076068..77077976,2	MCF-7	breast:
11	chr4:77101177..77103136-chr4:77108889..77111010,2	MCF-7	breast:
12	chr4:77050141..77053778-chr4:77066166..77070004,4	MCF-7	breast:
13	chr4:77058522..77060950-chr4:77099295..77101938,2	MCF-7	breast:
14	chr4:77068043..77069924-chr4:77085351..77088646,3	K562	blood:
15	chr4:77099739..77102113-chr4:77107352..77109592,2	K562	blood:
16	chr20:30192878..30193473-chr4:77069155..77070047,2	HCT-116	colon:
17	chr4:77056276..77058049-chr4:77058093..77060100,3	K562	blood:
18	chr4:77100834..77101731-chr4:77299299..77299831,3	MCF-7	breast:
19	chr4:77067723..77069563-chr4:77082506..77084530,2	K562	blood:
20	chr4:77067502..77069433-chr4:77097939..77100714,2	K562	blood:
21	chr4:77066331..77070645-chr4:77133023..77136401,5	K562	blood:
22	chr4:77065717..77067394-chr4:77069102..77070883,2	MCF-7	breast:
23	chr4:77065569..77067596-chr4:77067716..77071190,4	MCF-7	breast:
24	chr4:77102384..77104686-chr4:77104810..77107363,2	K562	blood:
25	chr4:77069568..77071228-chr4:77073316..77074829,2	MCF-7	breast:
26	chr4:77055702..77058489-chr4:77060298..77061923,3	K562	blood:
27	chr4:77071127..77073816-chr4:77194296..77196061,2	K562	blood:
28	chr4:77058522..77060950-chr4:77099295..77101938,2	MCF-7	breast:
29	chr4:77068261..77070256-chr4:77079541..77081890,2	MCF-7	breast:
30	chr4:77027487..77029799-chr4:77068169..77070683,2	K562	blood:
31	chr15:41624744..41625412-chr4:77069044..77069605,2	Hela-S3	cervix:
32	chr4:77067933..77070552-chr4:77097939..77099477,2	K562	blood:
33	chr4:77061702..77065283-chr4:77067091..77070259,5	MCF-7	breast:
34	chr4:77108730..77110793-chr4:77112512..77115192,2	K562	blood:
35	chr10:102756766..102757730-chr4:77069104..77069645,2	Hela-S3	cervix:
36	chr4:77055702..77058489-chr4:77060298..77061923,3	K562	blood:
37	chr4:77031133..77035310-chr4:77057270..77059295,3	K562	blood:
38	chr4:77112114..77114114-chr4:77116048..77119897,3	K562	blood:
39	chr10:65280781..65281512-chr4:77069031..77069623,2	NB4	blood:
40	chr4:77103626..77106900-chr4:77107437..77109558,3	K562	blood:
41	chr4:77100696..77102107-chr4:77298493..77299821,12	K562	blood:
42	chr4:77101037..77101657-chr4:77425834..77426647,3	K562	blood:
43	chr4:77100858..77102558-chr4:77153141..77154759,2	MCF-7	breast:
44	chr4:77054225..77056351-chr4:77067941..77069735,2	MCF-7	breast:
45	chr4:77108730..77110793-chr4:77112512..77115192,2	K562	blood:
46	chr4:77069025..77069713-chr8:135725164..135725715,2	Hela-S3	cervix:
47	chr4:77103626..77106900-chr4:77107437..77109558,3	K562	blood:
48	chr4:77067778..77069460-chr4:77134577..77136401,2	K562	blood:
49	chr4:77100730..77101561-chr4:77288471..77289108,2	K562	blood:
50	chr4:77068043..77069924-chr4:77085351..77088646,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCARB2-2	chr4:77066708-77066844	NONHSAT096987
2	lnc-SCARB2-2	chr4:77065337-77065445	NONHSAT096987
3	lnc-SCARB2-2	chr4:77065543-77065626	NONHSAT096987
4	lnc-SCARB2-2	chr4:77069243-77069353	NONHSAT096987

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SCARB2	hsa-miR-365a-3p	chr4:77081525-77081546
2	SCARB2	hsa-miR-222-3p	chr4:77082379-77082399
3	SCARB2	hsa-miR-222-3p	chr4:77079986-77080009
4	SCARB2	hsa-miR-7-5p	chr4:77082280-77082303

Variant related genes	Relation type
SCARB2	TF binding region
NUP54	TF binding region
SCARB2	CpG island
NUP54	CpG island
ENSG00000163749	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000272414	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000118804	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000165476	chromatin interactions
ENSG00000138758	chromatin interactions
ENSG00000138750	chromatin interactions
ENSG00000198301	chromatin interactions
ENSG00000066827	chromatin interactions
ENSG00000104147	chromatin interactions
ENSG00000138760	chromatin interactions
ENSG00000137804	chromatin interactions
ENSG00000189157	chromatin interactions
ENSG00000107816	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000138744	chromatin interactions
ENSG00000156219	chromatin interactions

Extended variants
information (count: 2329 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2329 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57573839	chr4:77053124-77053125	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7667810	chr4:77053128-77053129	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs149202257	chr4:77053152-77053153	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553385868	chr4:77053161-77053162	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs181876234	chr4:77053176-77053177	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs374556145	chr4:77053189-77053190	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs12648162	chr4:77053202-77053203	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs7668038	chr4:77053271-77053272	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113876697	chr4:77053375-77053376	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs12645639	chr4:77053488-77053489	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs187079710	chr4:77053498-77053499	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs191566222	chr4:77053517-77053518	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs143281378	chr4:77053533-77053534	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs542884548	chr4:77053551-77053552	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs148332235	chr4:77053554-77053555	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7698392	chr4:77053558-77053559	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs4859619	chr4:77053562-77053563	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545296098	chr4:77053572-77053573	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576948548	chr4:77053598-77053599	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs530871951	chr4:77053615-77053616	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs183496530	chr4:77053642-77053643	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs75247240	chr4:77053650-77053651	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs76105864	chr4:77053651-77053652	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs372428684	chr4:77053661-77053662	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567465667	chr4:77053760-77053761	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375662261	chr4:77053764-77053765	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368085835	chr4:77053775-77053776	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs370241180	chr4:77053781-77053782	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200018076	chr4:77053784-77053785	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79271477	chr4:77053787-77053788	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530221122	chr4:77053799-77053800	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs59645599	chr4:77053803-77053804	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs199836646	chr4:77053804-77053805	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567029076	chr4:77053805-77053806	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539338752	chr4:77053806-77053807	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140204433	chr4:77053817-77053818	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs61750814	chr4:77053834-77053835	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147720753	chr4:77053843-77053844	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs370933155	chr4:77053889-77053890	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141920931	chr4:77053899-77053900	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs377102665	chr4:77053922-77053923	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs537092271	chr4:77053979-77053980	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563604252	chr4:77053982-77053983	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375936861	chr4:77054014-77054015	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11729776	chr4:77054032-77054033	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs530385490	chr4:77054046-77054047	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562269145	chr4:77054112-77054113	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553155371	chr4:77054113-77054114	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573020451	chr4:77054121-77054122	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11729810	chr4:77054144-77054145	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:76)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2418 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77028000-77068600	Weak transcription	Gastric	stomach
2	chr4:77032600-77067600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:77033200-77058200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:77033200-77066000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:77033200-77068400	Weak transcription	Small Intestine	intestine
6	chr4:77033400-77065600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:77033400-77066000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:77033400-77066600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:77033600-77065600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr4:77033800-77066200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:77034000-77054000	Strong transcription	Dnd41	blood
12	chr4:77034000-77066000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:77034400-77067200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:77035000-77068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:77035200-77062000	Weak transcription	Esophagus	oesophagus
16	chr4:77035200-77068600	Weak transcription	Pancreas	Pancrea
17	chr4:77035400-77066000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:77035600-77068400	Weak transcription	Right Ventricle	heart
19	chr4:77036400-77054600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr4:77038200-77062000	Weak transcription	Aorta	Aorta
21	chr4:77039000-77061800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:77039000-77068200	Weak transcription	Psoas Muscle	Psoas
23	chr4:77039000-77068600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:77039400-77056000	Weak transcription	Stomach Mucosa	stomach
25	chr4:77039400-77056600	Weak transcription	Brain Substantia Nigra	brain
26	chr4:77039400-77056600	Weak transcription	Fetal Brain Male	brain
27	chr4:77039400-77056800	Weak transcription	NHLF	lung
28	chr4:77039600-77057400	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:77039800-77056600	Weak transcription	Colonic Mucosa	Colon
30	chr4:77040800-77056800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:77040800-77063200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:77041000-77056800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:77041800-77057600	Weak transcription	Ovary	ovary
34	chr4:77043600-77059400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:77043800-77059800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:77044200-77068200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:77044400-77056600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:77044400-77058400	Weak transcription	Brain Angular Gyrus	brain
39	chr4:77044400-77059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:77044400-77059600	Weak transcription	HSMMtube	muscle
41	chr4:77044400-77062000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:77044600-77053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:77044600-77061800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:77044600-77062000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:77044800-77053800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:77044800-77057600	Weak transcription	Lung	lung
47	chr4:77045000-77068600	Weak transcription	Spleen	Spleen
48	chr4:77045200-77053600	Weak transcription	Left Ventricle	heart
49	chr4:77046200-77056800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:77046600-77056400	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links