Variant report

Variant	nsv997637
Chromosome Location	chr2:46651624-46676628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:350)
CpG islands
(count:245)
Chromatin interactive
region (count:23)
LncRNA
region (count:69)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:46669114-46669724	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:46665570-46666564	K562	blood:	n/a	n/a
3	ARID3A	chr2:46655074-46656444	K562	blood:	n/a	n/a
4	ARID3A	chr2:46657448-46657466	K562	blood:	n/a	n/a
5	ARID3A	chr2:46652797-46653045	K562	blood:	n/a	n/a
6	ATF1	chr2:46665817-46666359	K562	blood:	n/a	n/a
7	ATF1	chr2:46666676-46667099	K562	blood:	n/a	n/a
8	ATF3	chr2:46665913-46666313	K562	blood:	n/a	n/a
9	BACH1	chr2:46665610-46665639	K562	blood:	n/a	n/a
10	BATF	chr2:46662604-46662818	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:46666739-46667100	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:46656018-46656527	K562	blood:	n/a	chr2:46656228-46656244
13	BHLHE40	chr2:46662654-46662706	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:46666751-46667051	K562	blood:	n/a	n/a
15	CBX3	chr2:46655773-46656610	K562	blood:	n/a	n/a
16	CCNT2	chr2:46666685-46667361	K562	blood:	n/a	n/a
17	CCNT2	chr2:46665622-46666378	K562	blood:	n/a	n/a
18	CCNT2	chr2:46655876-46656503	K562	blood:	n/a	n/a
19	CEBPB	chr2:46669074-46669359	HepG2	liver:	n/a	chr2:46669205-46669216
20	CEBPB	chr2:46656315-46656593	K562	blood:	n/a	n/a
21	CEBPB	chr2:46658712-46658999	K562	blood:	n/a	n/a
22	CEBPB	chr2:46676561-46677221	Hela-S3	cervix:	n/a	chr2:46677011-46677024 chr2:46677012-46677023 chr2:46677011-46677022 chr2:46677011-46677022
23	CEBPB	chr2:46656351-46656630	A549	lung:	n/a	n/a
24	CEBPB	chr2:46666020-46666313	IMR90	lung:	n/a	chr2:46666140-46666151
25	CEBPB	chr2:46656316-46656664	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:46656925-46657151	K562	blood:	n/a	n/a
27	CEBPB	chr2:46665971-46666282	K562	blood:	n/a	chr2:46666140-46666151
28	CEBPB	chr2:46666079-46666244	Hela-S3	cervix:	n/a	chr2:46666140-46666151
29	CEBPB	chr2:46652226-46652379	IMR90	lung:	n/a	n/a
30	CEBPB	chr2:46658784-46659388	IMR90	lung:	n/a	n/a
31	CEBPB	chr2:46656449-46656603	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:46652248-46652386	A549	lung:	n/a	n/a
33	CEBPB	chr2:46652107-46652438	K562	blood:	n/a	n/a
34	CEBPB	chr2:46659055-46659340	A549	lung:	n/a	n/a
35	CEBPB	chr2:46675798-46675992	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr2:46665778-46666351	K562	blood:	n/a	chr2:46666140-46666151
37	CEBPB	chr2:46665943-46666410	K562	blood:	n/a	chr2:46666140-46666151
38	CEBPB	chr2:46656034-46656697	K562	blood:	n/a	n/a
39	CEBPB	chr2:46666599-46667140	K562	blood:	n/a	n/a
40	CEBPB	chr2:46666021-46666293	HepG2	liver:	n/a	chr2:46666140-46666151
41	CEBPB	chr2:46673963-46674335	IMR90	lung:	n/a	n/a
42	CEBPB	chr2:46658700-46658933	K562	blood:	n/a	n/a
43	CEBPB	chr2:46669068-46669276	HepG2	liver:	n/a	chr2:46669205-46669216
44	CEBPB	chr2:46652193-46652449	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:46674095-46674190	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:46669075-46669370	HepG2	liver:	n/a	chr2:46669205-46669216
47	CEBPB	chr2:46656274-46656686	K562	blood:	n/a	n/a
48	CEBPB	chr2:46659146-46659264	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr2:46666719-46666999	K562	blood:	n/a	n/a
50	CEBPB	chr2:46669150-46669334	K562	blood:	n/a	chr2:46669205-46669216

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46656259-46656309	AG09319	gingival:	n/a
2	chr2:46656259-46656309	AG09319	gingival:	n/a
3	chr2:46656235-46656285	AoSMC	blood vessel:	n/a
4	chr2:46662132-46662182	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:46662132-46662182	HUVEC	blood vessel:	n/a
6	chr2:46656259-46656309	Caco-2	colon:	n/a
7	chr2:46656157-46656207	H1-hESC	embryonic stem cell:	embryo
8	chr2:46656235-46656285	MCF10A-Er-Src	breast:	n/a
9	chr2:46656235-46656285	PFSK-1	brain:	n/a
10	chr2:46656235-46656285	AG10803	skin:	n/a
11	chr2:46662132-46662182	BE2_C	brain:	n/a
12	chr2:46656235-46656285	GM19239	blood:	n/a
13	chr2:46656259-46656309	HNPCEpiC	eye:	n/a
14	chr2:46662132-46662182	HRE	kidney:	n/a
15	chr2:46656259-46656309	NB4	blood:	n/a
16	chr2:46656235-46656285	ProgFib	skin:	n/a
17	chr2:46656235-46656285	PrEC	prostate:	n/a
18	chr2:46656157-46656207	T-47D	breast:	n/a
19	chr2:46656157-46656207	NHDF-neo	bronchial:	n/a
20	chr2:46656235-46656285	PANC-1	pancreas:	n/a
21	chr2:46656259-46656309	HEEpiC	esophagus:	n/a
22	chr2:46662132-46662182	ovcar-3	ovarian:	n/a
23	chr2:46656259-46656309	SKMC	muscle:	n/a
24	chr2:46656157-46656207	SK-N-SH	brain:	n/a
25	chr2:46656157-46656207	MCF10A-Er-Src	breast:	n/a
26	chr2:46656259-46656309	NT2-D1	testis:	n/a
27	chr2:46656157-46656207	GM12878	blood:	n/a
28	chr2:46662132-46662182	ProgFib	skin:	n/a
29	chr2:46656157-46656207	GM19239	blood:	n/a
30	chr2:46656235-46656285	H1-hESC	embryonic stem cell:	embryo
31	chr2:46656235-46656285	SAEC	small airway:	n/a
32	chr2:46656157-46656207	HepG2	liver:	n/a
33	chr2:46656259-46656309	AG09309	skin:	n/a
34	chr2:46662132-46662182	U87	brain:	n/a
35	chr2:46656259-46656309	IMR90	lung:	fetal
36	chr2:46662132-46662182	Hepatocyte	liver:	n/a
37	chr2:46656259-46656309	MCF-7	breast:	n/a
38	chr2:46656157-46656207	PANC-1	pancreas:	n/a
39	chr2:46656157-46656207	HCF	heart:	n/a
40	chr2:46656259-46656309	PrEC	prostate:	n/a
41	chr2:46656259-46656309	AG10803	skin:	n/a
42	chr2:46662132-46662182	RPTEC	kidney:	n/a
43	chr2:46662132-46662182	GM19239	blood:	n/a
44	chr2:46656235-46656285	GM12878	blood:	n/a
45	chr2:46662132-46662182	PANC-1	pancreas:	n/a
46	chr2:46656235-46656285	GM06990	blood:	n/a
47	chr2:46656259-46656309	HepG2	liver:	n/a
48	chr2:46656259-46656309	BE2_C	brain:	n/a
49	chr2:46656259-46656309	HRCEpiC	kidney:	n/a
50	chr2:46656235-46656285	HEEpiC	esophagus:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46616106..46618804-chr2:46660579..46662953,2	K562	blood:
2	chr2:46656214..46657827-chr2:46704173..46707018,3	K562	blood:
3	chr2:46541786..46543916-chr2:46667813..46670793,2	K562	blood:
4	chr2:46655601..46658738-chr2:47401405..47405423,5	K562	blood:
5	chr2:46524680..46526500-chr2:46655060..46657015,2	K562	blood:
6	chr2:46668595..46671087-chr2:46674345..46676657,2	MCF-7	breast:
7	chr2:46633942..46636867-chr2:46657432..46660033,3	K562	blood:
8	chr2:46654722..46656648-chr2:47126320..47128240,2	K562	blood:
9	chr2:46672183..46675171-chr2:46680473..46682998,2	MCF-7	breast:
10	chr2:46661749..46663696-chr2:46665776..46668520,2	MCF-7	breast:
11	chr2:46606421..46608528-chr2:46662722..46665704,2	K562	blood:
12	chr2:46655810..46658802-chr2:46659495..46663165,3	MCF-7	breast:
13	chr2:46661044..46663217-chr2:46670020..46671893,2	MCF-7	breast:
14	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
15	chr2:46672076..46673677-chr2:46675364..46677315,2	K562	blood:
16	chr2:46611170..46613547-chr2:46667403..46669178,2	K562	blood:
17	chr2:46651527..46654296-chr2:47402010..47404354,2	K562	blood:
18	chr2:46639560..46641413-chr2:46651412..46653784,2	K562	blood:
19	chr2:46661044..46663217-chr2:46670020..46671893,2	MCF-7	breast:
20	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:
21	chr2:46672833..46675155-chr2:46688573..46690823,2	K562	blood:
22	chr2:46633942..46636424-chr2:46657432..46659768,2	K562	blood:
23	chr2:46633572..46635870-chr2:46669679..46671465,2	MCF-7	breast:

(count:69 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018682.6.1-1	chr2:46668431-46668510	XLOC_001455
2	lnc-AC018682.6.1-1	chr2:46656287-46656418	XLOC_001455
3	lnc-AC018682.6.1-1	chr2:46668370-46668510	NONHSAT147088
4	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
5	lnc-AC018682.6.1-1	chr2:46657313-46657372	XLOC_001455
6	lnc-AC018682.6.1-1	chr2:46667266-46667365	XLOC_001455
7	lnc-AC018682.6.1-1	chr2:46668698-46668972	NONHSAT147088
8	lnc-AC018682.6.1-1	chr2:46667266-46667365	XLOC_001455
9	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
10	lnc-AC018682.6.1-1	chr2:46668698-46668968	XLOC_001455
11	lnc-AC018682.6.1-1	chr2:46656404-46656418	XLOC_001455
12	lnc-AC018682.6.1-1	chr2:46671183-46671219	XLOC_001455
13	lnc-AC018682.6.1-1	chr2:46668698-46668971	XLOC_001455
14	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
15	lnc-AC018682.6.1-1	chr2:46671183-46671219	XLOC_001455
16	lnc-AC018682.6.1-1	chr2:46668370-46668510	XLOC_001455
17	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
18	lnc-AC018682.6.1-1	chr2:46667266-46667365	NONHSAT070496
19	lnc-AC018682.6.1-1	chr2:46668431-46668510	XLOC_001455
20	lnc-AC018682.6.1-1	chr2:46663612-46663839	XLOC_001455
21	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
22	lnc-AC018682.6.1-1	chr2:46667266-46667365	XLOC_001455
23	lnc-AC018682.6.1-1	chr2:46668698-46668972	XLOC_001455
24	lnc-AC018682.6.1-1	chr2:46656259-46656418	NONHSAT070485
25	lnc-AC018682.6.1-1	chr2:46667270-46667365	XLOC_001455
26	lnc-AC018682.6.1-1	chr2:46668235-46668248	XLOC_001455
27	lnc-AC018682.6.1-1	chr2:46667266-46667434	XLOC_001455
28	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
29	lnc-AC018682.6.1-1	chr2:46656334-46656418	XLOC_001455
30	lnc-AC018682.6.1-1	chr2:46668235-46668510	XLOC_001455
31	lnc-AC018682.6.1-1	chr2:46668698-46668971	NONHSAT070498
32	lnc-AC018682.6.1-1	chr2:46668235-46668510	NONHSAT147087
33	lnc-AC018682.6.1-1	chr2:46668698-46668971	XLOC_001455
34	lnc-AC018682.6.1-1	chr2:46668235-46668510	XLOC_001455
35	lnc-AC018682.6.1-1	chr2:46663612-46663835	NONHSAT070498
36	lnc-AC018682.6.1-1	chr2:46667266-46667365	XLOC_001455
37	lnc-ATP6V1E2-6	chr2:46675365-46675650	NONHSAT070500
38	lnc-AC018682.6.1-1	chr2:46657315-46657372	XLOC_001455
39	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
40	lnc-AC018682.6.1-1	chr2:46668431-46668510	NONHSAT070498
41	lnc-AC018682.6.1-1	chr2:46668698-46668972	NONHSAT147087
42	lnc-AC018682.6.1-1	chr2:46668370-46668510	XLOC_001455
43	lnc-AC018682.6.1-1	chr2:46657315-46657342	XLOC_001455
44	lnc-AC018682.6.1-1	chr2:46668698-46668961	XLOC_001455
45	lnc-AC018682.6.1-1	chr2:46667266-46667365	XLOC_001455
46	lnc-AC018682.6.1-1	chr2:46656276-46656418	XLOC_001455
47	lnc-AC018682.6.1-1	chr2:46669090-46669104	NONHSAT070496
48	lnc-ATP6V1E2-7	chr2:46660678-46660878	ucscGeneNc_uc002rvb_1
49	lnc-AC018682.6.1-1	chr2:46657315-46657372	NONHSAT147088
50	lnc-AC018682.6.1-1	chr2:46668235-46668510	XLOC_001455

No data

Variant related genes	Relation type
RN7SL817P	TF binding region
TMEM247	TF binding region
RN7SL817P	CpG island
TMEM247	CpG island
ENSG00000116016	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000228925	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000187600	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000241791	chromatin interactions
FGFBP1	miRNA target sites
POU4F2	miRNA target sites
EFNA1	miRNA target sites
EFNB1	miRNA target sites
VLDLR	miRNA target sites
POU2F3	miRNA target sites
POU2F1	miRNA target sites
EFNA3	miRNA target sites
VMA21	miRNA target sites
VKORC1	miRNA target sites
VOPP1	miRNA target sites
IRAK3	miRNA target sites
TRAF6	miRNA target sites
CYB5A	miRNA target sites
IRAK1	miRNA target sites
MLF1IP	miRNA target sites
EFNA5	miRNA target sites
DDX3Y	miRNA target sites

Extended variants
information (count: 1075 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4953372	chr2:46651624-46651625	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77172728	chr2:46651651-46651652	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1530623	chr2:46651680-46651681	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190077820	chr2:46651690-46651691	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116738474	chr2:46651744-46651745	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553549858	chr2:46651755-46651756	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7585322	chr2:46651771-46651772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181331125	chr2:46651776-46651777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372863086	chr2:46651829-46651830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7585357	chr2:46651852-46651853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546883724	chr2:46651882-46651883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368994651	chr2:46651915-46651916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532442112	chr2:46651936-46651937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11451212	chr2:46651937-46651938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557274440	chr2:46651991-46651992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185350945	chr2:46652031-46652032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190018067	chr2:46652052-46652053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180961764	chr2:46652060-46652061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185036824	chr2:46652079-46652080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566584765	chr2:46652125-46652126	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115108870	chr2:46652126-46652127	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539859664	chr2:46652133-46652134	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375939108	chr2:46652143-46652144	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs386645699	chr2:46652144-46652145	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs4953373	chr2:46652145-46652146	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552048666	chr2:46652198-46652199	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs72871992	chr2:46652218-46652219	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540006937	chr2:46652284-46652285	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547806810	chr2:46652285-46652286	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183904209	chr2:46652294-46652295	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536964134	chr2:46652342-46652343	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553346405	chr2:46652363-46652364	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562743423	chr2:46652374-46652375	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60404937	chr2:46652382-46652383	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs34712412	chr2:46652428-46652429	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115801253	chr2:46652450-46652451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573635470	chr2:46652502-46652503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142845231	chr2:46652536-46652537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575787217	chr2:46652543-46652544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188448876	chr2:46652548-46652549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561277007	chr2:46652554-46652555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574694304	chr2:46652603-46652604	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs191728044	chr2:46652616-46652617	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs377557878	chr2:46652632-46652633	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183346854	chr2:46652638-46652639	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187305580	chr2:46652647-46652648	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76742643	chr2:46652663-46652664	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562312011	chr2:46652677-46652678	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34997625	chr2:46652697-46652698	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531303730	chr2:46652699-46652700	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46644400-46656000	Weak transcription	Aorta	Aorta
2	chr2:46646200-46655600	Weak transcription	Placenta	Placenta
3	chr2:46647800-46658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:46648800-46653600	Weak transcription	K562	blood
5	chr2:46651600-46652400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:46651600-46652400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:46653600-46657600	Active TSS	K562	blood
8	chr2:46655600-46657600	Active TSS	Placenta	Placenta
9	chr2:46656000-46656400	ZNF genes & repeats	Aorta	Aorta
10	chr2:46656000-46656600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:46656200-46656600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:46656200-46656600	Enhancers	Esophagus	oesophagus
13	chr2:46656600-46661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:46656600-46661800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:46657200-46672200	Enhancers	HepG2	liver
16	chr2:46657400-46657800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:46657600-46657800	Transcr. at gene 5' and 3'	K562	blood
18	chr2:46657600-46658400	Weak transcription	Placenta	Placenta
19	chr2:46657600-46660600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:46657600-46660800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:46657600-46663800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:46657800-46658000	Active TSS	K562	blood
23	chr2:46657800-46658200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:46657800-46660600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:46658000-46658200	Flanking Active TSS	K562	blood
26	chr2:46658000-46659800	Enhancers	Dnd41	blood
27	chr2:46658000-46660600	Enhancers	Primary T cells from cord blood	blood
28	chr2:46658000-46660800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:46658200-46658600	Transcr. at gene 5' and 3'	K562	blood
30	chr2:46658200-46659000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:46658200-46659000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:46658200-46659200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:46658200-46660400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:46658200-46660400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:46658200-46660400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:46658200-46660600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:46658400-46658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:46658400-46658800	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:46658400-46659000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:46658400-46659200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:46658400-46659200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:46658400-46659200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr2:46658400-46659600	Enhancers	Placenta	Placenta
44	chr2:46658400-46660400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:46658400-46660400	Enhancers	NHLF	lung
46	chr2:46658400-46660600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:46658400-46660600	Enhancers	Fetal Thymus	thymus
48	chr2:46658400-46660600	Enhancers	Thymus	Thymus
49	chr2:46658600-46659200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:46658600-46659200	Enhancers	Osteobl	bone

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