Variant report

Variant	nsv946249
Chromosome Location	chr1:144916736-144950463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144923974-144924494	HepG2	liver:	n/a	chr1:144924178-144924194
2	ARID3A	chr1:144918079-144918361	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:144918090-144918310	K562	blood:	n/a	n/a
4	ARID3A	chr1:144931963-144932828	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:144931414-144931602	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:144921610-144922130	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:144938243-144938360	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:144938874-144939338	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:144937109-144937725	HepG2	liver:	n/a	n/a
10	ATF1	chr1:144918124-144918317	K562	blood:	n/a	n/a
11	ATF2	chr1:144931771-144932702	GM12878	blood:	n/a	n/a
12	ATF2	chr1:144931876-144932753	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:144931922-144932867	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr1:144931477-144932093	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:144924377-144924386	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr1:144918063-144918340	GM12878	blood:	n/a	n/a
17	BCL3	chr1:144931803-144933017	A549	lung:	n/a	chr1:144932014-144932027 chr1:144932069-144932082 chr1:144931862-144931875 chr1:144932058-144932071 chr1:144932171-144932179
18	BCLAF1	chr1:144931095-144932686	GM12878	blood:	n/a	chr1:144932014-144932027 chr1:144931744-144931753 chr1:144932069-144932082 chr1:144931862-144931875 chr1:144931747-144931756 chr1:144931740-144931753 chr1:144931749-144931762 chr1:144931743-144931756 chr1:144932058-144932071 chr1:144931741-144931750 chr1:144931742-144931755 chr1:144932171-144932179
19	BHLHE40	chr1:144921698-144922064	HepG2	liver:	n/a	n/a
20	BHLHE40	chr1:144918068-144918289	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:144931358-144932896	GM12878	blood:	n/a	chr1:144931851-144931867 chr1:144931740-144931756 chr1:144932069-144932085
22	BHLHE40	chr1:144935383-144935704	GM12878	blood:	n/a	n/a
23	BRCA1	chr1:144931904-144933128	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr1:144931824-144932592	HepG2	liver:	n/a	n/a
25	BRCA1	chr1:144938833-144938875	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:144932110-144933073	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:144938742-144938911	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr1:144932346-144932836	GM12878	blood:	n/a	n/a
29	CBX3	chr1:144931897-144932645	K562	blood:	n/a	n/a
30	CCNT2	chr1:144931633-144932040	K562	blood:	n/a	chr1:144931905-144931914
31	CCNT2	chr1:144932320-144932515	K562	blood:	n/a	n/a
32	CEBPB	chr1:144921641-144921913	HepG2	liver:	n/a	chr1:144921733-144921744 chr1:144921732-144921743
33	CEBPB	chr1:144927237-144927696	MCF-7	breast:	n/a	chr1:144927468-144927477 chr1:144927468-144927479 chr1:144927466-144927477
34	CEBPB	chr1:144931985-144932687	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:144934021-144934315	IMR90	lung:	n/a	chr1:144934170-144934183 chr1:144934170-144934183
36	CEBPB	chr1:144944654-144944953	IMR90	lung:	n/a	chr1:144944788-144944799 chr1:144944820-144944832 chr1:144944789-144944798 chr1:144944784-144944801 chr1:144944789-144944798 chr1:144944830-144944841
37	CEBPB	chr1:144931539-144932774	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr1:144927281-144927655	HepG2	liver:	n/a	chr1:144927468-144927477 chr1:144927468-144927479 chr1:144927466-144927477
39	CEBPB	chr1:144917779-144918365	K562	blood:	n/a	n/a
40	CEBPB	chr1:144943960-144944245	HepG2	liver:	n/a	chr1:144944060-144944073 chr1:144944107-144944118
41	CEBPB	chr1:144944549-144944889	K562	blood:	n/a	chr1:144944788-144944799 chr1:144944820-144944832 chr1:144944789-144944798 chr1:144944784-144944801 chr1:144944789-144944798 chr1:144944830-144944841
42	CEBPB	chr1:144927150-144927904	MCF-7	breast:	n/a	chr1:144927468-144927477 chr1:144927468-144927479 chr1:144927466-144927477
43	CEBPB	chr1:144944635-144944970	HepG2	liver:	n/a	chr1:144944788-144944799 chr1:144944820-144944832 chr1:144944789-144944798 chr1:144944784-144944801 chr1:144944789-144944798 chr1:144944830-144944841
44	CEBPB	chr1:144943837-144944215	A549	lung:	n/a	chr1:144944060-144944073 chr1:144944107-144944118
45	CEBPB	chr1:144944648-144944952	A549	lung:	n/a	chr1:144944788-144944799 chr1:144944820-144944832 chr1:144944789-144944798 chr1:144944784-144944801 chr1:144944789-144944798 chr1:144944830-144944841
46	CEBPB	chr1:144931467-144931677	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:144918060-144918316	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr1:144943964-144944205	IMR90	lung:	n/a	chr1:144944060-144944073 chr1:144944107-144944118
49	CEBPB	chr1:144927276-144927660	IMR90	lung:	n/a	chr1:144927468-144927477 chr1:144927468-144927479 chr1:144927466-144927477
50	CEBPB	chr1:144927283-144927666	ECC-1	luminal epithelium:	n/a	chr1:144927468-144927477 chr1:144927468-144927479 chr1:144927466-144927477

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144926986-144927036	HCF	heart:	n/a
2	chr1:144932227-144932277	HL-60	blood:	n/a
3	chr1:144928806-144928856	HCPEpiC	choroid plexus:	n/a
4	chr1:144930964-144931014	HAEpiC	amniotic membrane:	n/a
5	chr1:144931975-144932025	NB4	blood:	n/a
6	chr1:144931379-144931429	AG10803	skin:	n/a
7	chr1:144931975-144932025	PrEC	prostate:	n/a
8	chr1:144930572-144930622	ovcar-3	ovarian:	n/a
9	chr1:144931966-144932016	NH-A	brain:	n/a
10	chr1:144932476-144932526	Hepatocyte	liver:	n/a
11	chr1:144932473-144932523	SAEC	small airway:	n/a
12	chr1:144931980-144932030	NB4	blood:	n/a
13	chr1:144932311-144932361	HL-60	blood:	n/a
14	chr1:144932227-144932277	GM12878	blood:	n/a
15	chr1:144937317-144937367	NHBE	bronchial:	n/a
16	chr1:144931980-144932030	BJ	skin:	n/a
17	chr1:144942354-144942404	K562	blood:	n/a
18	chr1:144932914-144932964	GM12891	blood:	n/a
19	chr1:144932227-144932277	AG10803	skin:	n/a
20	chr1:144926986-144927036	CMK	blood:	n/a
21	chr1:144931476-144931526	GM12892	blood:	n/a
22	chr1:144932625-144932675	RPTEC	kidney:	n/a
23	chr1:144932473-144932523	AG04450	lung:	fetal
24	chr1:144932473-144932523	HNPCEpiC	eye:	n/a
25	chr1:144926986-144927036	AG09319	gingival:	n/a
26	chr1:144931379-144931429	HCF	heart:	n/a
27	chr1:144935409-144935459	K562	blood:	n/a
28	chr1:144942354-144942404	PFSK-1	brain:	n/a
29	chr1:144932473-144932523	MCF-7	breast:	n/a
30	chr1:144931476-144931526	CMK	blood:	n/a
31	chr1:144928806-144928856	GM12878	blood:	n/a
32	chr1:144932476-144932526	PANC-1	pancreas:	n/a
33	chr1:144926986-144927036	NT2-D1	testis:	n/a
34	chr1:144932136-144932186	A549	lung:	n/a
35	chr1:144932227-144932277	HRE	kidney:	n/a
36	chr1:144928806-144928856	ProgFib	skin:	n/a
37	chr1:144932476-144932526	U87	brain:	n/a
38	chr1:144932473-144932523	SK-N-MC	brain:	n/a
39	chr1:144930964-144931014	HNPCEpiC	eye:	n/a
40	chr1:144932136-144932186	HNPCEpiC	eye:	n/a
41	chr1:144932311-144932361	NH-A	brain:	n/a
42	chr1:144930964-144931014	NB4	blood:	n/a
43	chr1:144931379-144931429	HRE	kidney:	n/a
44	chr1:144930572-144930622	NHDF-neo	bronchial:	n/a
45	chr1:144932207-144932257	GM19239	blood:	n/a
46	chr1:144931980-144932030	MCF10A-Er-Src	breast:	n/a
47	chr1:144942354-144942404	HIPEpiC	eye:	n/a
48	chr1:144932136-144932186	NT2-D1	testis:	n/a
49	chr1:144931966-144932016	HCF	heart:	n/a
50	chr1:144937317-144937367	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:144928918..144931481-chr1:145062129..145063729,2	MCF-7	breast:
2	chr1:144927059..144931579-chr1:144936470..144939032,4	K562	blood:
3	chr1:144925900..144930140-chr1:144930950..144934648,7	K562	blood:
4	chr1:144914245..144917269-chr1:144938650..144941626,3	K562	blood:
5	chr1:144930907..144932689-chr1:144940117..144941761,2	K562	blood:
6	chr1:144932935..144935038-chr1:144937428..144939924,3	K562	blood:
7	chr1:144935354..144938295-chr1:144938460..144940081,2	K562	blood:
8	chr1:144927042..144929439-chr1:145000648..145002279,2	MCF-7	breast:
9	chr1:144932003..144934560-chr1:145095329..145097401,2	MCF-7	breast:
10	chr1:144931784..144933992-chr8:86374827..86377261,2	MCF-7	breast:
11	chr1:144937739..144940161-chr1:145039312..145041037,2	K562	blood:
12	chr1:144912685..144914252-chr1:144947438..144950034,2	K562	blood:
13	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
14	chr1:144912771..144915909-chr1:144922533..144924963,5	MCF-7	breast:
15	chr1:144913721..144916057-chr1:144919209..144920985,3	K562	blood:
16	chr1:144917778..144918636-chr1:147553160..147554160,3	MCF-7	breast:
17	chr1:144917701..144918598-chr1:145059017..145059574,2	MCF-7	breast:
18	chr1:144917479..144918148-chr1:145066148..145066847,2	K562	blood:
19	chr1:144929981..144935077-chr1:145095230..145100493,10	MCF-7	breast:
20	chr1:144935354..144938295-chr1:144938460..144940081,2	K562	blood:
21	chr1:144926702..144928514-chr1:144928774..144930808,3	K562	blood:
22	chr1:144917599..144919150-chr1:144929052..144931824,2	K562	blood:
23	chr1:144917927..144918738-chr1:145057991..145059601,5	K562	blood:
24	chr1:144917990..144918581-chr1:145061611..145062219,2	MCF-7	breast:
25	chr1:144932649..144934258-chr15:98503922..98505541,2	MCF-7	breast:
26	chr1:144930056..144932339-chr1:145016108..145018468,2	MCF-7	breast:
27	chr1:144930770..144933506-chr20:52490207..52493077,2	MCF-7	breast:
28	chr1:144922144..144925989-chr1:144935346..144938648,3	K562	blood:
29	chr1:144924927..144926596-chr1:145062250..145064152,2	MCF-7	breast:
30	chr1:144930877..144933652-chr1:144988569..144991245,4	MCF-7	breast:
31	chr1:144932022..144932702-chr7:1569907..1570774,2	Hela-S3	cervix:
32	chr1:144931684..144932440-chr1:144940811..144941415,2	MCF-7	breast:
33	chr1:144946789..144948627-chr1:144995983..144997975,2	K562	blood:
34	chr1:144926859..144928442-chr1:145074988..145077339,2	K562	blood:
35	chr1:144934978..144937918-chr1:145018510..145021156,2	K562	blood:
36	chr1:144924964..144927595-chr1:145016965..145019616,2	MCF-7	breast:
37	chr1:144931205..144934166-chr1:144942025..144944282,3	K562	blood:
38	chr1:144940268..144942523-chr1:144943310..144945549,2	MCF-7	breast:
39	chr1:144921129..144925054-chr1:144925916..144930718,5	K562	blood:
40	chr1:144931059..144933605-chr1:149223782..149225455,2	MCF-7	breast:
41	chr1:144933330..144935038-chr1:144937428..144939924,2	K562	blood:
42	chr1:144917532..144918295-chr20:53090253..53091159,2	MCF-7	breast:
43	chr1:144931527..144934135-chr2:172948979..172951801,2	MCF-7	breast:
44	chr1:144932557..144935247-chr1:145038247..145041311,3	MCF-7	breast:
45	chr1:144928277..144930324-chr1:145037550..145040548,2	MCF-7	breast:
46	chr1:144930971..144932699-chr1:145382569..145384639,2	MCF-7	breast:
47	chr1:144931832..144934351-chr1:145043528..145045220,3	K562	blood:
48	chr1:144908156..144910754-chr1:144927017..144928830,2	MCF-7	breast:
49	chr1:144931658..144932278-chr6:30711843..30712705,2	HCT-116	colon:
50	chr1:144932233..144932787-chr9:35657699..35658670,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR3GL-8	chr1:144941080-144941374	NONHSAT005865
2	lnc-POLR3GL-8	chr1:144941080-144941367	NONHSAT005866
3	lnc-POLR3GL-8	chr1:144940123-144940515	NONHSAT005865
4	lnc-POLR3GL-8	chr1:144941764-144941802	NONHSAT005865
5	lnc-POLR3GL-8	chr1:144940359-144940515	NONHSAT005866
6	lnc-POLR3GL-8	chr1:144940612-144940760	NONHSAT005866

Variant related genes	Relation type
PDE4DIP	TF binding region
RNU2-38P	TF binding region
PDE4DIP	CpG island
RNU2-38P	CpG island
ENSG00000178104	chromatin interactions
ENSG00000115738	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000117289	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000272755	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000269900	chromatin interactions
ENSG00000198517	chromatin interactions
ENSG00000222788	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000140450	chromatin interactions
ENSG00000159884	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000108846	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000241721	chromatin interactions

Extended variants
information (count: 1576 )
Associated
traits (count: 167 )

Variant overlapped rSNPs/rCNVs (count:1576 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369236732	chr1:144916745-144916746	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1747930	chr1:144916748-144916749	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201818574	chr1:144916752-144916753	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587710898	chr1:144916754-144916755	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs587603999	chr1:144916759-144916760	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112177634	chr1:144916774-144916775	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs587642317	chr1:144916778-144916779	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587726507	chr1:144916800-144916801	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150431310	chr1:144916809-144916810	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs587679500	chr1:144916831-144916832	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs587736867	chr1:144916874-144916875	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs17162248	chr1:144916893-144916894	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199927712	chr1:144916896-144916897	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs587653592	chr1:144916897-144916898	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201033710	chr1:144916902-144916903	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs587737352	chr1:144916903-144916904	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs71303632	chr1:144916909-144916910	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141913093	chr1:144916910-144916911	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148810639	chr1:144916912-144916913	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs16826687	chr1:144916944-144916945	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs587717461	chr1:144916964-144916965	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs601274	chr1:144916995-144916996	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs587647774	chr1:144917039-144917040	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs111767104	chr1:144917061-144917062	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs587752590	chr1:144917141-144917142	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1699800	chr1:144917199-144917200	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11488581	chr1:144917200-144917201	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587768961	chr1:144917202-144917203	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111300282	chr1:144917229-144917230	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587646987	chr1:144917254-144917255	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs587724673	chr1:144917273-144917274	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs587603546	chr1:144917297-144917298	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587649038	chr1:144917298-144917299	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375021376	chr1:144917303-144917304	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs587707998	chr1:144917340-144917341	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112926648	chr1:144917452-144917453	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111587584	chr1:144917470-144917471	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs138171812	chr1:144917531-144917532	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199736417	chr1:144917534-144917535	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147238704	chr1:144917537-144917538	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1698682	chr1:144917546-144917547	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148545675	chr1:144917555-144917556	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371534743	chr1:144917561-144917562	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs141130081	chr1:144917567-144917568	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374769269	chr1:144917575-144917576	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs150716992	chr1:144917595-144917596	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs587714051	chr1:144917635-144917636	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs199998182	chr1:144917636-144917637	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368896163	chr1:144917637-144917638	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374004175	chr1:144917656-144917657	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:167)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Autism	20858243	CNVD

Chromatin state (count:2277 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144898800-144923400	Strong transcription	Adipose Nuclei	Adipose
2	chr1:144900200-144921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:144900600-144919600	Strong transcription	Liver	Liver
4	chr1:144900800-144919800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr1:144900800-144920000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr1:144900800-144923600	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:144901000-144921800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:144901200-144920800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr1:144901200-144923800	Strong transcription	Fetal Brain Female	brain
10	chr1:144901200-144924200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:144901200-144925600	Strong transcription	Placenta	Placenta
12	chr1:144901400-144923600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:144901600-144924000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:144901800-144923600	Strong transcription	Brain Anterior Caudate	brain
15	chr1:144901800-144925400	Strong transcription	K562	blood
16	chr1:144902000-144923600	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:144902200-144923600	Strong transcription	Brain Cingulate Gyrus	brain
18	chr1:144902200-144924200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr1:144902400-144918200	Strong transcription	Left Ventricle	heart
20	chr1:144902400-144924000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:144902600-144918000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:144902600-144919600	Strong transcription	Fetal Intestine Large	intestine
23	chr1:144902600-144924200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:144902800-144917800	Strong transcription	Ovary	ovary
25	chr1:144902800-144923600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:144903400-144918200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr1:144903800-144923600	Strong transcription	Brain Hippocampus Middle	brain
28	chr1:144905000-144921200	Strong transcription	Fetal Kidney	kidney
29	chr1:144905000-144923600	Strong transcription	Brain Germinal Matrix	brain
30	chr1:144906800-144917400	Strong transcription	Right Ventricle	heart
31	chr1:144908600-144917800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:144908600-144923800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:144908800-144923400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:144909200-144920200	Strong transcription	Colon Smooth Muscle	Colon
35	chr1:144909200-144924000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr1:144909400-144923600	Strong transcription	HSMMtube	muscle
37	chr1:144909600-144924000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:144909800-144918000	Strong transcription	Rectal Smooth Muscle	rectum
39	chr1:144909800-144921400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:144909800-144925400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:144910200-144920000	Strong transcription	Colonic Mucosa	Colon
42	chr1:144910400-144924000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:144910600-144918000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:144910600-144918400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:144910600-144924200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:144911000-144917000	Strong transcription	Gastric	stomach
47	chr1:144911000-144917000	Strong transcription	Lung	lung
48	chr1:144911000-144917000	Strong transcription	Pancreas	Pancrea
49	chr1:144911000-144917600	Strong transcription	Aorta	Aorta
50	chr1:144911000-144918000	Strong transcription	Brain Angular Gyrus	brain

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