Variant report

Variant	nsv872490
Chromosome Location	chr1:160083012-160121488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:584)
CpG islands
(count:1281)
Chromatin interactive
region (count:48)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:160094419-160094881	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:160117925-160118242	HepG2	liver:	n/a	n/a
3	ATF1	chr1:160088802-160088934	K562	blood:	n/a	n/a
4	ATF1	chr1:160120205-160120221	K562	blood:	n/a	n/a
5	ATF3	chr1:160094535-160095041	A549	lung:	n/a	n/a
6	BCL3	chr1:160094470-160095106	A549	lung:	n/a	n/a
7	BCL3	chr1:160094330-160095002	A549	lung:	n/a	n/a
8	BRCA1	chr1:160094499-160094897	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr1:160094341-160095308	HCT-116	colon:	n/a	n/a
10	CEBPB	chr1:160094315-160095012	Hela-S3	cervix:	n/a	chr1:160094635-160094646
11	CEBPB	chr1:160094560-160094759	HepG2	liver:	n/a	chr1:160094635-160094646
12	CEBPB	chr1:160094349-160094905	HepG2	liver:	n/a	chr1:160094635-160094646
13	CEBPB	chr1:160094483-160094694	H1-hESC	embryonic stem cell:	n/a	chr1:160094635-160094646
14	CEBPB	chr1:160087158-160087411	HepG2	liver:	n/a	chr1:160087294-160087305 chr1:160087293-160087306
15	CEBPB	chr1:160094348-160094893	A549	lung:	n/a	chr1:160094635-160094646
16	CEBPB	chr1:160087238-160087453	H1-hESC	embryonic stem cell:	n/a	chr1:160087294-160087305 chr1:160087293-160087306
17	CEBPB	chr1:160094402-160094930	A549	lung:	n/a	chr1:160094635-160094646
18	CEBPB	chr1:160094437-160094932	ECC-1	luminal epithelium:	n/a	chr1:160094635-160094646
19	CEBPB	chr1:160087146-160087473	Hela-S3	cervix:	n/a	chr1:160087294-160087305 chr1:160087293-160087306
20	CEBPB	chr1:160094337-160094969	MCF-7	breast:	n/a	chr1:160094635-160094646
21	CEBPB	chr1:160119551-160119828	K562	blood:	n/a	n/a
22	CEBPB	chr1:160094282-160095014	MCF-7	breast:	n/a	chr1:160094635-160094646
23	CEBPB	chr1:160096256-160096413	K562	blood:	n/a	chr1:160096315-160096326
24	CEBPB	chr1:160096210-160096438	HepG2	liver:	n/a	chr1:160096315-160096326
25	CEBPB	chr1:160094321-160095042	IMR90	lung:	n/a	chr1:160094635-160094646
26	CEBPB	chr1:160087119-160087466	IMR90	lung:	n/a	chr1:160087294-160087305 chr1:160087293-160087306
27	CEBPB	chr1:160120801-160120877	IMR90	lung:	n/a	chr1:160120849-160120860
28	CEBPB	chr1:160120699-160120902	K562	blood:	n/a	chr1:160120849-160120860
29	CEBPB	chr1:160087162-160087466	A549	lung:	n/a	chr1:160087294-160087305 chr1:160087293-160087306
30	CEBPB	chr1:160087142-160087467	K562	blood:	n/a	chr1:160087294-160087305 chr1:160087293-160087306
31	CEBPB	chr1:160094338-160094985	ECC-1	luminal epithelium:	n/a	chr1:160094635-160094646
32	CEBPB	chr1:160119516-160119883	IMR90	lung:	n/a	n/a
33	CEBPB	chr1:160096268-160096347	Hela-S3	cervix:	n/a	chr1:160096315-160096326
34	CEBPB	chr1:160094361-160094842	HepG2	liver:	n/a	chr1:160094635-160094646
35	CEBPB	chr1:160119158-160119911	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr1:160120715-160120923	HepG2	liver:	n/a	chr1:160120849-160120860
37	CEBPB	chr1:160094205-160095116	A549	lung:	n/a	chr1:160094635-160094646
38	CEBPZ	chr1:160097908-160097943	HepG2	liver:	n/a	n/a
39	CHD2	chr1:160094533-160095026	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr1:160094968-160095109	HepG2	liver:	n/a	n/a
41	CTBP2	chr1:160085093-160086015	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:160094560-160094710	AG10803	skin:	n/a	n/a
43	CTCF	chr1:160086547-160086629	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:160094540-160094690	HEK293	kidney:	n/a	n/a
45	CTCF	chr1:160086540-160086690	HEK293	kidney:	n/a	n/a
46	CTCF	chr1:160094900-160095050	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr1:160094960-160095110	NB4	blood:	n/a	n/a
48	CTCF	chr1:160095020-160095170	AG10803	skin:	n/a	n/a
49	CTCF	chr1:160094500-160094650	GM12873	blood:	n/a	n/a
50	CTCF	chr1:160094558-160094675	MCF-7	breast:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:160084833-160084883	AG04450	lung:	fetal
2	chr1:160085433-160085483	HAEpiC	amniotic membrane:	n/a
3	chr1:160084398-160084448	GM06990	blood:	n/a
4	chr1:160085496-160085546	GM12891	blood:	n/a
5	chr1:160098048-160098098	GM12891	blood:	n/a
6	chr1:160085132-160085182	HNPCEpiC	eye:	n/a
7	chr1:160084263-160084313	AoSMC	blood vessel:	n/a
8	chr1:160121263-160121313	A549	lung:	n/a
9	chr1:160121263-160121313	AG09319	gingival:	n/a
10	chr1:160084779-160084829	HEEpiC	esophagus:	n/a
11	chr1:160097232-160097282	LNCaP	prostate:	n/a
12	chr1:160084398-160084448	HCM	heart:	n/a
13	chr1:160084398-160084448	HRE	kidney:	n/a
14	chr1:160095999-160096049	HIPEpiC	eye:	n/a
15	chr1:160095999-160096049	MCF-7	breast:	n/a
16	chr1:160098527-160098577	NB4	blood:	n/a
17	chr1:160095999-160096049	AG04449	skin:	fetal
18	chr1:160121201-160121251	SK-N-SH	brain:	n/a
19	chr1:160084833-160084883	GM12891	blood:	n/a
20	chr1:160121412-160121462	HCM	heart:	n/a
21	chr1:160085581-160085631	BE2_C	brain:	n/a
22	chr1:160085496-160085546	GM06990	blood:	n/a
23	chr1:160098048-160098098	SKMC	muscle:	n/a
24	chr1:160121283-160121333	HepG2	liver:	n/a
25	chr1:160085568-160085618	SAEC	small airway:	n/a
26	chr1:160097232-160097282	HRCEpiC	kidney:	n/a
27	chr1:160085132-160085182	SK-N-SH	brain:	n/a
28	chr1:160098048-160098098	SK-N-SH	brain:	n/a
29	chr1:160121487-160121537	SK-N-SH	brain:	n/a
30	chr1:160121263-160121313	HNPCEpiC	eye:	n/a
31	chr1:160085132-160085182	HIPEpiC	eye:	n/a
32	chr1:160094954-160095004	HUVEC	blood vessel:	n/a
33	chr1:160112673-160112723	HEEpiC	esophagus:	n/a
34	chr1:160121283-160121333	PFSK-1	brain:	n/a
35	chr1:160121283-160121333	IMR90	lung:	fetal
36	chr1:160094954-160095004	CMK	blood:	n/a
37	chr1:160085433-160085483	BJ	skin:	n/a
38	chr1:160097232-160097282	HCF	heart:	n/a
39	chr1:160112673-160112723	MCF-7	breast:	n/a
40	chr1:160097232-160097282	AG10803	skin:	n/a
41	chr1:160085496-160085546	MCF-7	breast:	n/a
42	chr1:160084398-160084448	BJ	skin:	n/a
43	chr1:160085581-160085631	HNPCEpiC	eye:	n/a
44	chr1:160084833-160084883	HL-60	blood:	n/a
45	chr1:160098527-160098577	PFSK-1	brain:	n/a
46	chr1:160085496-160085546	MCF10A-Er-Src	breast:	n/a
47	chr1:160121263-160121313	GM12878	blood:	n/a
48	chr1:160085568-160085618	IMR90	lung:	fetal
49	chr1:160121201-160121251	SKMC	muscle:	n/a
50	chr1:160112673-160112723	AG04450	lung:	fetal

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160103698..160106616-chr1:160108808..160110694,2	K562	blood:
2	chr1:160103698..160106616-chr1:160108808..160110694,2	K562	blood:
3	chr1:160112963..160115059-chr1:160116109..160118179,2	K562	blood:
4	chr1:160080964..160083988-chr3:73158461..73161621,18	K562	blood:
5	chr1:160080964..160083988-chr3:73158464..73162068,5	MCF-7	breast:
6	chr1:160082464..160083987-chr3:53844168..53845688,2	K562	blood:
7	chr1:160080985..160083988-chr17:41380430..41383693,4	K562	blood:
8	chr1:160080964..160083966-chr10:103123126..103126132,6	K562	blood:
9	chr1:160080964..160083987-chr11:62607622..62610720,16	K562	blood:
10	chr1:160086782..160089188-chr1:160096500..160099033,2	K562	blood:
11	chr1:160094674..160096214-chr1:160096674..160098253,2	MCF-7	breast:
12	chr1:160068235..160071185-chr1:160084103..160086176,2	K562	blood:
13	chr1:160093121..160095812-chr1:160107178..160109878,2	K562	blood:
14	chr1:160080964..160083986-chr17:41464178..41467848,23	K562	blood:
15	chr1:160080586..160083294-chr1:160147064..160150019,2	MCF-7	breast:
16	chr1:160080964..160083963-chr17:41391284..41393804,3	K562	blood:
17	chr1:160104302..160107204-chr1:160107299..160108872,2	MCF-7	breast:
18	chr1:160084512..160086303-chr1:160093219..160095150,2	MCF-7	breast:
19	chr1:160082464..160083984-chr11:61276233..61277753,2	K562	blood:
20	chr1:160092607..160095043-chr1:160253530..160255818,2	MCF-7	breast:
21	chr1:160082467..160083988-chrX:96138932..96140452,2	MCF-7	breast:
22	chr1:160080964..160083966-chr17:41399649..41402375,7	K562	blood:
23	chr1:160080964..160083988-chr17:41463592..41467638,9	MCF-7	breast:
24	chr1:160083469..160085740-chr1:160096653..160098636,2	K562	blood:
25	chr1:160112963..160115059-chr1:160116109..160118179,2	K562	blood:
26	chr1:160065564..160068271-chr1:160082257..160084240,2	MCF-7	breast:
27	chr1:160080620..160082605-chr1:160087609..160090128,2	K562	blood:
28	chr1:160083469..160085740-chr1:160096653..160098636,2	K562	blood:
29	chr1:160084512..160086303-chr1:160093219..160095150,2	MCF-7	breast:
30	chr1:160082468..160083985-chr13:90583692..90585215,3	K562	blood:
31	chr1:160080967..160083988-chr11:62607618..62610648,12	K562	blood:
32	chr1:160080964..160083988-chr3:73158451..73161571,21	K562	blood:
33	chr1:160085794..160087533-chr1:160090949..160092603,2	K562	blood:
34	chr1:160083301..160085781-chr1:160135957..160137542,2	K562	blood:
35	chr1:160082463..160083986-chr4:8218786..8220306,2	K562	blood:
36	chr1:160085794..160087533-chr1:160090949..160092603,2	K562	blood:
37	chr1:160081105..160085719-chr1:160086673..160091386,5	K562	blood:
38	chr1:160099410..160101934-chr1:160112290..160114172,2	K562	blood:
39	chr1:160082466..160083968-chr13:90583692..90585197,2	K562	blood:
40	chr1:160093121..160095812-chr1:160107178..160109878,2	K562	blood:
41	chr1:160098805..160101465-chr1:160105602..160107369,2	K562	blood:
42	chr1:160080964..160083987-chr17:41398849..41402375,12	K562	blood:
43	chr1:160082468..160083988-chr17:41464200..41466223,4	MCF-7	breast:
44	chr1:160080964..160083988-chr17:41464178..41467879,21	K562	blood:
45	chr1:160099410..160101934-chr1:160112290..160114172,2	K562	blood:
46	chr1:160080965..160083984-chr17:41398967..41401934,3	MCF-7	breast:
47	chr1:160097137..160099642-chr1:160101829..160104164,2	K562	blood:
48	chr1:160083452..160085490-chr1:160312223..160314829,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP1A4-1	chr1:160111084-160111567	NONHSAT007042
2	lnc-ATP1A4-1	chr1:160109749-160109774	NONHSAT007042
3	lnc-ATP1A4-1	chr1:160110441-160110564	NONHSAT007042

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATP1A2	hsa-miR-122-5p	chr1:160112547-160112565

Variant related genes	Relation type
ATP1A2	TF binding region
ATP1A4	TF binding region
ATP1A2	CpG island
ATP1A4	CpG island
ENSG00000132681	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000204950	chromatin interactions
ENSG00000162729	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000018625	chromatin interactions
ENSG00000122218	chromatin interactions
ENSG00000162735	chromatin interactions
ENSG00000258465	chromatin interactions
ENSG00000162736	chromatin interactions

Extended variants
information (count: 1743 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1743 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4656879	chr1:160083012-160083013	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570562902	chr1:160083149-160083150	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs367761375	chr1:160083174-160083175	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs76296902	chr1:160083175-160083176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs77012896	chr1:160083178-160083179	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs537365601	chr1:160083198-160083199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs556861933	chr1:160083243-160083244	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs527244670	chr1:160083245-160083246	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs143448433	chr1:160083285-160083286	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs556953332	chr1:160083289-160083290	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs370611856	chr1:160083324-160083325	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs375590541	chr1:160083335-160083336	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs532609139	chr1:160083340-160083341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs573684775	chr1:160083353-160083354	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs373998044	chr1:160083360-160083361	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs551146926	chr1:160083383-160083384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs180894619	chr1:160083430-160083431	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs536325989	chr1:160083450-160083451	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs548213126	chr1:160083472-160083473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs11265328	chr1:160083544-160083545	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533886456	chr1:160083552-160083553	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs199709684	chr1:160083579-160083580	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs572931054	chr1:160083619-160083620	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs570715865	chr1:160083621-160083622	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs537696114	chr1:160083641-160083642	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs556298787	chr1:160083705-160083706	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs574479879	chr1:160083750-160083751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs541960423	chr1:160083813-160083814	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs553876885	chr1:160083814-160083815	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs572075563	chr1:160083827-160083828	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs146119920	chr1:160083890-160083891	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs138978321	chr1:160083893-160083894	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs532837246	chr1:160083916-160083917	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs544506905	chr1:160083936-160083937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs563084030	chr1:160083951-160083952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs184890473	chr1:160083979-160083980	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs548279217	chr1:160084005-160084006	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs12753323	chr1:160084057-160084058	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs564993477	chr1:160084086-160084087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs566585291	chr1:160084106-160084107	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs149285335	chr1:160084124-160084125	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs114245259	chr1:160084159-160084160	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs3761684	chr1:160084163-160084164	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs538124545	chr1:160084175-160084176	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs556147910	chr1:160084176-160084177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs544514404	chr1:160084189-160084190	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs535600549	chr1:160084191-160084192	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs561292964	chr1:160084225-160084226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs553915829	chr1:160084229-160084230	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs531141178	chr1:160084261-160084262	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1048 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160072800-160083200	Weak transcription	Right Atrium	heart
2	chr1:160074400-160083200	Weak transcription	Aorta	Aorta
3	chr1:160074800-160083400	Weak transcription	HSMMtube	muscle
4	chr1:160074800-160086400	Weak transcription	Spleen	Spleen
5	chr1:160075000-160083400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:160078400-160085400	Enhancers	Fetal Muscle Leg	muscle
7	chr1:160079400-160083800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:160079400-160084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:160079600-160084400	Weak transcription	Fetal Lung	lung
10	chr1:160080800-160083600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:160080800-160085400	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:160081800-160084400	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:160081800-160084400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:160081800-160084800	Enhancers	Brain Hippocampus Middle	brain
15	chr1:160081800-160085200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:160081800-160085200	Enhancers	Psoas Muscle	Psoas
17	chr1:160081800-160085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:160081800-160085400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:160081800-160085400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:160081800-160085400	Enhancers	Ovary	ovary
21	chr1:160081800-160085600	Enhancers	Right Ventricle	heart
22	chr1:160082000-160085400	Enhancers	Placenta	Placenta
23	chr1:160082200-160084200	Enhancers	HepG2	liver
24	chr1:160082200-160085200	Enhancers	Fetal Heart	heart
25	chr1:160082400-160083800	Enhancers	Brain Substantia Nigra	brain
26	chr1:160082400-160083800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:160082400-160085200	Enhancers	Left Ventricle	heart
28	chr1:160082400-160085400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:160082400-160085400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:160082400-160085400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:160082400-160085400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr1:160082600-160083400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:160082600-160083600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:160082600-160084000	Enhancers	Brain Anterior Caudate	brain
35	chr1:160082600-160084400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:160082600-160084600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:160082600-160085200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:160082600-160085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:160082600-160085200	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:160082600-160085400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:160082600-160085400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:160082600-160085400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:160082600-160085400	Enhancers	Adipose Nuclei	Adipose
44	chr1:160082600-160085600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:160082600-160085600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:160082600-160085600	Weak transcription	Esophagus	oesophagus
47	chr1:160082600-160085600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:160083000-160083400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:160083000-160083800	Bivalent Enhancer	Fetal Stomach	stomach
50	chr1:160083000-160085200	Weak transcription	Brain Angular Gyrus	brain

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