Variant report

Variant	nsv581744
Chromosome Location	chr2:46637081-46660752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:183)
Chromatin interactive
region (count:42)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:46643468-46644679	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:46657448-46657466	K562	blood:	n/a	n/a
3	ARID3A	chr2:46655074-46656444	K562	blood:	n/a	n/a
4	ARID3A	chr2:46641784-46642229	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:46652797-46653045	K562	blood:	n/a	n/a
6	BHLHE40	chr2:46656018-46656527	K562	blood:	n/a	chr2:46656228-46656244
7	CBX3	chr2:46643456-46643826	HCT-116	colon:	n/a	n/a
8	CBX3	chr2:46645616-46646051	K562	blood:	n/a	n/a
9	CBX3	chr2:46655773-46656610	K562	blood:	n/a	n/a
10	CCNT2	chr2:46655876-46656503	K562	blood:	n/a	n/a
11	CEBPB	chr2:46658712-46658999	K562	blood:	n/a	n/a
12	CEBPB	chr2:46652107-46652438	K562	blood:	n/a	n/a
13	CEBPB	chr2:46650144-46650486	HepG2	liver:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
14	CEBPB	chr2:46656364-46656631	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:46650175-46650356	H1-hESC	embryonic stem cell:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
16	CEBPB	chr2:46650188-46650457	IMR90	lung:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
17	CEBPB	chr2:46658716-46659256	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:46659055-46659340	A549	lung:	n/a	n/a
19	CEBPB	chr2:46659146-46659264	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr2:46650161-46650496	ECC-1	luminal epithelium:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
21	CEBPB	chr2:46656274-46656686	K562	blood:	n/a	n/a
22	CEBPB	chr2:46656034-46656697	K562	blood:	n/a	n/a
23	CEBPB	chr2:46656316-46656664	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:46656449-46656603	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:46650165-46650470	A549	lung:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
26	CEBPB	chr2:46644332-46644522	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr2:46658700-46658933	K562	blood:	n/a	n/a
28	CEBPB	chr2:46650217-46650456	K562	blood:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
29	CEBPB	chr2:46656315-46656593	K562	blood:	n/a	n/a
30	CEBPB	chr2:46656351-46656630	A549	lung:	n/a	n/a
31	CEBPB	chr2:46656925-46657151	K562	blood:	n/a	n/a
32	CEBPB	chr2:46650150-46650479	Hela-S3	cervix:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
33	CEBPB	chr2:46652226-46652379	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:46650153-46650439	K562	blood:	n/a	chr2:46650302-46650313 chr2:46650337-46650348
35	CEBPB	chr2:46652248-46652386	A549	lung:	n/a	n/a
36	CEBPB	chr2:46658784-46659388	IMR90	lung:	n/a	n/a
37	CEBPB	chr2:46652193-46652449	HepG2	liver:	n/a	n/a
38	CEBPD	chr2:46655898-46656639	K562	blood:	n/a	n/a
39	CHD2	chr2:46636073-46637096	HepG2	liver:	n/a	chr2:46636143-46636153
40	CHD2	chr2:46655799-46656484	K562	blood:	n/a	n/a
41	CTCF	chr2:46658540-46658690	GM12873	blood:	n/a	n/a
42	CTCF	chr2:46645785-46645788	GM19239	blood:	n/a	n/a
43	CTCF	chr2:46647603-46647667	Fibrobl	skin:	n/a	n/a
44	CTCF	chr2:46645780-46645930	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr2:46646129-46646181	GM13977	blood:	n/a	n/a
46	CTCF	chr2:46658720-46658870	BE2_C	brain:	n/a	n/a
47	CTCF	chr2:46658760-46658910	HepG2	liver:	n/a	n/a
48	CTCF	chr2:46656079-46656187	K562	blood:	n/a	chr2:46656126-46656144
49	CTCF	chr2:46645747-46645756	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:46658660-46658810	HCPEpiC	choroid plexus:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46656259-46656309	K562	blood:	n/a
2	chr2:46656259-46656309	HCF	heart:	n/a
3	chr2:46656157-46656207	IMR90	lung:	fetal
4	chr2:46656235-46656285	T-47D	breast:	n/a
5	chr2:46656157-46656207	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:46656259-46656309	SAEC	small airway:	n/a
7	chr2:46656157-46656207	SK-N-SH_RA	brain:	n/a
8	chr2:46656235-46656285	AG04449	skin:	fetal
9	chr2:46656259-46656309	GM12891	blood:	n/a
10	chr2:46656157-46656207	GM19239	blood:	n/a
11	chr2:46656157-46656207	U87	brain:	n/a
12	chr2:46656235-46656285	SAEC	small airway:	n/a
13	chr2:46656235-46656285	ovcar-3	ovarian:	n/a
14	chr2:46656157-46656207	CMK	blood:	n/a
15	chr2:46656235-46656285	HMEC	breast:	n/a
16	chr2:46656157-46656207	HepG2	liver:	n/a
17	chr2:46656235-46656285	HEEpiC	esophagus:	n/a
18	chr2:46656259-46656309	LNCaP	prostate:	n/a
19	chr2:46656259-46656309	GM19239	blood:	n/a
20	chr2:46656235-46656285	HNPCEpiC	eye:	n/a
21	chr2:46656259-46656309	MCF10A-Er-Src	breast:	n/a
22	chr2:46656157-46656207	NB4	blood:	n/a
23	chr2:46656235-46656285	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:46656157-46656207	GM06990	blood:	n/a
25	chr2:46656157-46656207	H1-hESC	embryonic stem cell:	embryo
26	chr2:46656235-46656285	AG04450	lung:	fetal
27	chr2:46656259-46656309	T-47D	breast:	n/a
28	chr2:46656259-46656309	HEEpiC	esophagus:	n/a
29	chr2:46656259-46656309	U87	brain:	n/a
30	chr2:46656157-46656207	HL-60	blood:	n/a
31	chr2:46656235-46656285	PFSK-1	brain:	n/a
32	chr2:46656157-46656207	PFSK-1	brain:	n/a
33	chr2:46656235-46656285	RPTEC	kidney:	n/a
34	chr2:46656157-46656207	HUVEC	blood vessel:	n/a
35	chr2:46656157-46656207	HRE	kidney:	n/a
36	chr2:46656157-46656207	SKMC	muscle:	n/a
37	chr2:46656235-46656285	HRCEpiC	kidney:	n/a
38	chr2:46656157-46656207	GM12892	blood:	n/a
39	chr2:46656235-46656285	SK-N-MC	brain:	n/a
40	chr2:46656235-46656285	HCF	heart:	n/a
41	chr2:46656235-46656285	SK-N-SH	brain:	n/a
42	chr2:46656157-46656207	HCM	heart:	n/a
43	chr2:46656235-46656285	Hepatocyte	liver:	n/a
44	chr2:46656157-46656207	HIPEpiC	eye:	n/a
45	chr2:46656259-46656309	HL-60	blood:	n/a
46	chr2:46656259-46656309	CMK	blood:	n/a
47	chr2:46656259-46656309	HRE	kidney:	n/a
48	chr2:46656259-46656309	NT2-D1	testis:	n/a
49	chr2:46656235-46656285	BE2_C	brain:	n/a
50	chr2:46656235-46656285	CMK	blood:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46636493..46638557-chr2:46644102..46646935,2	MCF-7	breast:
2	chr2:46642474..46644578-chr2:46647464..46649217,3	MCF-7	breast:
3	chr2:46629599..46631246-chr2:46635810..46637676,2	MCF-7	breast:
4	chr2:46599672..46601854-chr2:46635973..46638690,2	K562	blood:
5	chr2:46602852..46605080-chr2:46635870..46638322,2	MCF-7	breast:
6	chr2:46643196..46644984-chr2:46645644..46648496,2	K562	blood:
7	chr2:46628197..46631151-chr2:46648455..46651249,2	MCF-7	breast:
8	chr2:46639560..46641413-chr2:46651412..46653784,2	K562	blood:
9	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
10	chr2:46616106..46618804-chr2:46660579..46662953,2	K562	blood:
11	chr2:46524294..46526928-chr2:46635317..46637787,2	MCF-7	breast:
12	chr2:46640448..46643419-chr2:46661889..46663890,2	K562	blood:
13	chr2:46631775..46634525-chr2:46644116..46646273,2	K562	blood:
14	chr2:46634878..46637734-chr2:46638527..46641360,4	MCF-7	breast:
15	chr2:46645440..46647125-chr2:46649125..46651256,2	K562	blood:
16	chr2:46628301..46630616-chr2:46648050..46649778,2	K562	blood:
17	chr2:46633942..46636424-chr2:46657432..46659768,2	K562	blood:
18	chr2:46645440..46647125-chr2:46649125..46651256,2	K562	blood:
19	chr2:46644964..46649951-chr2:46651361..46658318,8	K562	blood:
20	chr2:46651527..46654296-chr2:47402010..47404354,2	K562	blood:
21	chr2:46639560..46641413-chr2:46651412..46653784,2	K562	blood:
22	chr2:46655601..46658738-chr2:47401405..47405423,5	K562	blood:
23	chr2:46633942..46636867-chr2:46657432..46660033,3	K562	blood:
24	chr2:46629116..46631183-chr2:46648278..46651239,2	K562	blood:
25	chr2:46636493..46638557-chr2:46644102..46646935,2	MCF-7	breast:
26	chr2:46654722..46656648-chr2:47126320..47128240,2	K562	blood:
27	chr2:46548590..46550903-chr2:46636031..46638044,2	MCF-7	breast:
28	chr2:46634737..46637528-chr2:46648902..46651516,2	K562	blood:
29	chr2:46636115..46638908-chr2:46687157..46689113,2	MCF-7	breast:
30	chr2:46638606..46641189-chr2:46655634..46657804,2	K562	blood:
31	chr2:46634878..46637734-chr2:46638527..46641360,4	MCF-7	breast:
32	chr2:46635461..46637911-chr2:46643463..46645428,2	MCF-7	breast:
33	chr2:46639689..46643864-chr2:46655202..46657134,3	K562	blood:
34	chr2:46656214..46657827-chr2:46704173..46707018,3	K562	blood:
35	chr2:46524680..46526500-chr2:46655060..46657015,2	K562	blood:
36	chr2:46635461..46637911-chr2:46643463..46645428,2	MCF-7	breast:
37	chr2:46634737..46637528-chr2:46648902..46651516,2	K562	blood:
38	chr2:46643196..46644984-chr2:46645644..46648496,2	K562	blood:
39	chr2:46655810..46658802-chr2:46659495..46663165,3	MCF-7	breast:
40	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
41	chr2:46631504..46633445-chr2:46635398..46638031,3	K562	blood:
42	chr2:46642474..46644578-chr2:46647464..46649217,3	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
2	lnc-AC018682.6.1-1	chr2:46656334-46656418	NONHSAT070496
3	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
4	lnc-AC018682.6.1-1	chr2:46656287-46656418	XLOC_001455
5	lnc-AC018682.6.1-1	chr2:46657315-46657372	XLOC_001455
6	lnc-AC018682.6.1-1	chr2:46656287-46656418	XLOC_001455
7	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
8	lnc-AC018682.6.1-1	chr2:46656329-46656418	NONHSAT147087
9	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
10	lnc-AC018682.6.1-1	chr2:46656334-46656418	XLOC_001455
11	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
12	lnc-AC018682.6.1-1	chr2:46656404-46656418	XLOC_001455
13	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
14	lnc-AC018682.6.1-1	chr2:46657313-46657372	XLOC_001455
15	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
16	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
17	lnc-ATP6V1E2-7	chr2:46648900-46650213	ucscGeneNc_uc002rvb_1
18	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
19	lnc-ATP6V1E2-7	chr2:46660678-46660878	ucscGeneNc_uc002rvb_1
20	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
21	lnc-AC018682.6.1-1	chr2:46656259-46656418	NONHSAT070485
22	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
23	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
24	lnc-AC018682.6.1-1	chr2:46657315-46657372	NONHSAT147088

No data

Variant related genes	Relation type
TMEM247	TF binding region
TMEM247	CpG island
ENSG00000143933	chromatin interactions
ENSG00000187600	chromatin interactions
ENSG00000228925	chromatin interactions
ENSG00000116016	chromatin interactions
VLDLR	miRNA target sites
IRAK1	miRNA target sites
IRAK3	miRNA target sites
TRAF6	miRNA target sites
EFNA3	miRNA target sites
EFNA1	miRNA target sites
VKORC1	miRNA target sites

Extended variants
information (count: 1112 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4953363	chr2:46637081-46637082	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367599375	chr2:46637087-46637088	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs62138873	chr2:46637091-46637092	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60076970	chr2:46637099-46637100	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560587818	chr2:46637109-46637110	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182793631	chr2:46637120-46637121	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185121291	chr2:46637121-46637122	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77618476	chr2:46637152-46637153	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552597693	chr2:46637155-46637156	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537641772	chr2:46637170-46637171	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569207170	chr2:46637176-46637177	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538114741	chr2:46637185-46637186	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189585442	chr2:46637214-46637215	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556468245	chr2:46637219-46637220	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568177427	chr2:46637255-46637256	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140817547	chr2:46637269-46637270	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553586318	chr2:46637281-46637282	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576525058	chr2:46637284-46637285	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142314480	chr2:46637287-46637288	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183363054	chr2:46637289-46637290	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75766766	chr2:46637291-46637292	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544596747	chr2:46637303-46637304	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561589155	chr2:46637304-46637305	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534201066	chr2:46637324-46637325	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554008348	chr2:46637330-46637331	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59148905	chr2:46637335-46637336	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574937393	chr2:46637350-46637351	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1447563	chr2:46637364-46637365	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs560610809	chr2:46637365-46637366	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532638546	chr2:46637366-46637367	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572044948	chr2:46637428-46637429	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145508877	chr2:46637444-46637445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187869646	chr2:46637458-46637459	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs193070954	chr2:46637459-46637460	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548193736	chr2:46637514-46637515	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150828230	chr2:46637521-46637522	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533793101	chr2:46637531-46637532	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139272796	chr2:46637566-46637567	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183820641	chr2:46637601-46637602	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188363111	chr2:46637605-46637606	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555807293	chr2:46637615-46637616	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565712827	chr2:46637635-46637636	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72871953	chr2:46637650-46637651	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535385013	chr2:46637678-46637679	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547944487	chr2:46637682-46637683	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368966303	chr2:46637688-46637689	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192917056	chr2:46637737-46637738	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540506616	chr2:46637752-46637753	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560646022	chr2:46637763-46637764	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113133250	chr2:46637802-46637803	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:46633600-46639000	Enhancers	Esophagus	oesophagus
5	chr2:46633800-46637800	Enhancers	Pancreas	Pancrea
6	chr2:46633800-46638800	Enhancers	Stomach Mucosa	stomach
7	chr2:46633800-46642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:46634400-46637200	Enhancers	Colonic Mucosa	Colon
9	chr2:46634600-46639400	Enhancers	HMEC	breast
10	chr2:46634800-46637800	Weak transcription	Gastric	stomach
11	chr2:46634800-46641800	Weak transcription	Spleen	Spleen
12	chr2:46635200-46637400	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:46635400-46637200	Enhancers	Fetal Intestine Large	intestine
14	chr2:46635400-46637200	Enhancers	Fetal Intestine Small	intestine
15	chr2:46635400-46637200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr2:46635400-46637200	Flanking Active TSS	Hela-S3	cervix
17	chr2:46635400-46639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:46635600-46637200	Flanking Active TSS	HepG2	liver
19	chr2:46635600-46637600	Enhancers	Liver	Liver
20	chr2:46635800-46637200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:46635800-46637200	Enhancers	Right Atrium	heart
22	chr2:46635800-46637600	Enhancers	Adipose Nuclei	Adipose
23	chr2:46635800-46637800	Enhancers	NHEK	skin
24	chr2:46636000-46637800	Enhancers	Right Ventricle	heart
25	chr2:46636000-46639400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:46636200-46637200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:46636200-46637200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:46636200-46637600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:46636200-46638200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:46636400-46637200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:46636400-46637200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:46636800-46637400	Enhancers	A549	lung
33	chr2:46636800-46637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:46636800-46637800	Enhancers	Left Ventricle	heart
35	chr2:46636800-46640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:46636800-46646200	Weak transcription	K562	blood
37	chr2:46637000-46637200	Enhancers	Lung	lung
38	chr2:46637000-46638200	Genic enhancers	Placenta	Placenta
39	chr2:46637000-46638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:46637200-46639400	Enhancers	Hela-S3	cervix
41	chr2:46637200-46642600	Enhancers	HepG2	liver
42	chr2:46637400-46637800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr2:46637400-46638600	Weak transcription	A549	lung
44	chr2:46637600-46638800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:46637800-46638000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:46637800-46638000	Enhancers	Gastric	stomach
47	chr2:46637800-46638600	Weak transcription	Right Ventricle	heart
48	chr2:46637800-46638800	Weak transcription	Left Ventricle	heart
49	chr2:46637800-46640400	Weak transcription	NHEK	skin
50	chr2:46638000-46638800	Weak transcription	Gastric	stomach

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