Variant report

Variant	nsv548553
Chromosome Location	chr1:190446253-190492280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:490)
Chromatin interactive
region (count:5)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:190468018-190468035	K562	blood:	n/a	n/a
2	BACH1	chr1:190486481-190486484	K562	blood:	n/a	n/a
3	BRCA1	chr1:190448178-190448180	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr1:190482561-190482944	IMR90	lung:	n/a	chr1:190482774-190482783 chr1:190482774-190482783 chr1:190482773-190482784 chr1:190482774-190482783 chr1:190482772-190482785
5	CEBPB	chr1:190482588-190482907	A549	lung:	n/a	chr1:190482774-190482783 chr1:190482774-190482783 chr1:190482773-190482784 chr1:190482774-190482783 chr1:190482772-190482785
6	CEBPB	chr1:190447237-190447354	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:190482609-190482928	K562	blood:	n/a	chr1:190482774-190482783 chr1:190482774-190482783 chr1:190482773-190482784 chr1:190482774-190482783 chr1:190482772-190482785
8	CEBPB	chr1:190482634-190482949	H1-hESC	embryonic stem cell:	n/a	chr1:190482774-190482783 chr1:190482774-190482783 chr1:190482773-190482784 chr1:190482774-190482783 chr1:190482772-190482785
9	CEBPB	chr1:190482603-190482902	Hela-S3	cervix:	n/a	chr1:190482774-190482783 chr1:190482774-190482783 chr1:190482773-190482784 chr1:190482774-190482783 chr1:190482772-190482785
10	CEBPB	chr1:190463528-190463986	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:190482496-190482946	HepG2	liver:	n/a	chr1:190482774-190482783 chr1:190482774-190482783 chr1:190482773-190482784 chr1:190482774-190482783 chr1:190482772-190482785
12	CEBPB	chr1:190448377-190448519	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr1:190447111-190447248	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr1:190448119-190448317	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr1:190447252-190447284	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr1:190448095-190448332	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTBP2	chr1:190447174-190448394	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:190448820-190448970	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr1:190460637-190460740	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr1:190447796-190447912	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr1:190447200-190447350	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr1:190447520-190447670	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr1:190447380-190447530	HRE	kidney:	n/a	n/a
24	CTCF	chr1:190447360-190447510	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:190448872-190448912	A549	lung:	n/a	n/a
26	CTCF	chr1:190447313-190447519	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:190447377-190447504	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:190447393-190447440	GM12891	blood:	n/a	n/a
29	CTCF	chr1:190460640-190460790	BE2_C	brain:	n/a	n/a
30	CTCF	chr1:190448835-190448932	LNCaP	prostate:	n/a	n/a
31	CTCF	chr1:190447540-190447690	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr1:190447380-190447530	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr1:190465318-190465331	Medullo	brain:	n/a	n/a
34	CTCF	chr1:190447320-190447470	Caco-2	colon:	n/a	n/a
35	CTCF	chr1:190460664-190460737	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr1:190460600-190460750	Caco-2	colon:	n/a	n/a
37	CTCF	chr1:190447360-190447510	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr1:190447300-190447450	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr1:190448763-190448974	Medullo	brain:	n/a	n/a
40	CTCF	chr1:190447312-190447506	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:190447320-190447470	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr1:190447349-190447460	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr1:190448857-190448916	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:190447364-190447505	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:190447340-190447490	BE2_C	brain:	n/a	n/a
46	CTCF	chr1:190447060-190447210	BE2_C	brain:	n/a	n/a
47	CTCF	chr1:190447332-190447535	A549	lung:	n/a	n/a
48	CTCF	chr1:190447321-190447536	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:190447340-190447490	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr1:190447320-190447470	HCPEpiC	choroid plexus:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:190447603-190447653	PrEC	prostate:	n/a
2	chr1:190448126-190448176	Caco-2	colon:	n/a
3	chr1:190447603-190447653	PrEC	prostate:	n/a
4	chr1:190448126-190448176	Caco-2	colon:	n/a
5	chr1:190446829-190446879	GM06990	blood:	n/a
6	chr1:190447232-190447282	SK-N-SH_RA	brain:	n/a
7	chr1:190447421-190447471	HCF	heart:	n/a
8	chr1:190447640-190447690	Hela-S3	cervix:	n/a
9	chr1:190447232-190447282	HCM	heart:	n/a
10	chr1:190447290-190447340	ProgFib	skin:	n/a
11	chr1:190446829-190446879	IMR90	lung:	fetal
12	chr1:190447232-190447282	BE2_C	brain:	n/a
13	chr1:190446756-190446806	HCPEpiC	choroid plexus:	n/a
14	chr1:190447290-190447340	GM19239	blood:	n/a
15	chr1:190446756-190446806	PrEC	prostate:	n/a
16	chr1:190447603-190447653	SK-N-SH	brain:	n/a
17	chr1:190446756-190446806	HEEpiC	esophagus:	n/a
18	chr1:190447232-190447282	IMR90	lung:	fetal
19	chr1:190447640-190447690	ECC-1	luminal epithelium:	n/a
20	chr1:190447640-190447690	HEK293	kidney:	embryo
21	chr1:190446829-190446879	SKMC	muscle:	n/a
22	chr1:190447421-190447471	GM19239	blood:	n/a
23	chr1:190447232-190447282	HCF	heart:	n/a
24	chr1:190447421-190447471	HCPEpiC	choroid plexus:	n/a
25	chr1:190447232-190447282	K562	blood:	n/a
26	chr1:190447290-190447340	BE2_C	brain:	n/a
27	chr1:190447290-190447340	LNCaP	prostate:	n/a
28	chr1:190447421-190447471	SK-N-SH	brain:	n/a
29	chr1:190447232-190447282	NB4	blood:	n/a
30	chr1:190447603-190447653	Hepatocyte	liver:	n/a
31	chr1:190447421-190447471	NH-A	brain:	n/a
32	chr1:190447640-190447690	HAEpiC	amniotic membrane:	n/a
33	chr1:190448126-190448176	SAEC	small airway:	n/a
34	chr1:190447603-190447653	HIPEpiC	eye:	n/a
35	chr1:190446756-190446806	AG10803	skin:	n/a
36	chr1:190447640-190447690	HMEC	breast:	n/a
37	chr1:190448126-190448176	AG04450	lung:	fetal
38	chr1:190447603-190447653	PFSK-1	brain:	n/a
39	chr1:190446756-190446806	HEK293	kidney:	embryo
40	chr1:190447640-190447690	MCF-7	breast:	n/a
41	chr1:190446756-190446806	HMEC	breast:	n/a
42	chr1:190447640-190447690	HRE	kidney:	n/a
43	chr1:190446756-190446806	T-47D	breast:	n/a
44	chr1:190447603-190447653	LNCaP	prostate:	n/a
45	chr1:190446756-190446806	CMK	blood:	n/a
46	chr1:190447603-190447653	AoSMC	blood vessel:	n/a
47	chr1:190447421-190447471	MCF10A-Er-Src	breast:	n/a
48	chr1:190447640-190447690	RPTEC	kidney:	n/a
49	chr1:190446829-190446879	H1-hESC	embryonic stem cell:	embryo
50	chr1:190447232-190447282	PANC-1	pancreas:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190481525..190484334-chr1:190501308..190503770,2	K562	blood:
2	chr1:190443878..190446178-chr1:190461343..190463264,2	K562	blood:
3	chr1:190456328..190457105-chr20:42218949..42219566,2	Hela-S3	cervix:
4	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:
5	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-5	chr1:190449475-190449779	NONHSAT008496
2	lnc-RGS18-5	chr1:190449475-190450669	XLOC_000505
3	lnc-RGS18-5	chr1:190449475-190449704	XLOC_000505
4	lnc-RGS18-5	chr1:190448136-190448270	XLOC_000505
5	lnc-RGS18-5	chr1:190449509-190449554	ENSG00000241505
6	lnc-RGS18-5	chr1:190448171-190448270	XLOC_000505
7	lnc-RGS18-5	chr1:190447356-190447622	XLOC_000505
8	lnc-RGS18-5	chr1:190462968-190463427	ENSG00000241505
9	lnc-RGS18-5	chr1:190448212-190448255	NONHSAT008497
10	lnc-RGS18-5	chr1:190448212-190448270	XLOC_000505
11	lnc-RGS18-5	chr1:190447390-190447622	XLOC_000505
12	lnc-RGS18-5	chr1:190448171-190448271	XLOC_000505
13	lnc-RGS18-5	chr1:190449475-190450523	XLOC_000505
14	lnc-RGS18-5	chr1:190449475-190450669	XLOC_000505
15	lnc-RGS18-5	chr1:190447888-190448066	NONHSAT008498
16	lnc-RGS18-5	chr1:190447681-190447761	XLOC_000505
17	lnc-RGS18-5	chr1:190462968-190463251	XLOC_000505
18	lnc-RGS18-5	chr1:190447939-190447943	XLOC_000505
19	lnc-RGS18-5	chr1:190449475-190449865	XLOC_000505
20	lnc-RGS18-5	chr1:190449475-190450667	XLOC_000505
21	lnc-RGS18-5	chr1:190446965-190447761	NONHSAT008497
22	lnc-RGS18-5	chr1:190447593-190447761	XLOC_000505
23	lnc-RGS18-5	chr1:190449475-190449865	XLOC_000505
24	lnc-RGS18-5	chr1:190447753-190447761	XLOC_000505
25	lnc-RGS18-5	chr1:190447611-190447761	XLOC_000505
26	lnc-RGS18-5	chr1:190447329-190447761	NONHSAT008498
27	lnc-RGS18-5	chr1:190448171-190448270	XLOC_000505

No data

Variant related genes	Relation type
ENSG00000237457	TF binding region
ENSG00000241505	TF binding region
BRINP3	TF binding region
ENSG00000237457	CpG island
ENSG00000241505	CpG island
BRINP3	CpG island
ENSG00000162670	chromatin interactions
NRAS	miRNA target sites
FECH	miRNA target sites
PRNP	miRNA target sites
PDLIM5	miRNA target sites

Extended variants
information (count: 565 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1171050	chr1:190446253-190446254	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532970942	chr1:190446300-190446301	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189625982	chr1:190446327-190446328	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563360064	chr1:190446344-190446345	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180813660	chr1:190446386-190446387	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185007534	chr1:190446393-190446394	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541033966	chr1:190446409-190446410	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565634557	chr1:190446460-190446461	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528793327	chr1:190446490-190446491	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142774058	chr1:190446509-190446510	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74607253	chr1:190446525-190446526	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537225693	chr1:190446594-190446595	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs61818811	chr1:190446597-190446598	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs370369879	chr1:190446647-190446648	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs567435492	chr1:190446692-190446693	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs536317958	chr1:190446709-190446710	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
17	rs552951426	chr1:190446745-190446746	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs573112557	chr1:190446762-190446763	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
19	rs561457030	chr1:190446771-190446772	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
20	rs558967074	chr1:190446782-190446783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
21	rs12732361	chr1:190446806-190446807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs151058290	chr1:190446818-190446819	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs189460954	chr1:190446819-190446820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs570315190	chr1:190446860-190446861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
25	rs144201653	chr1:190446890-190446891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
26	rs181650675	chr1:190446916-190446917	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs114140410	chr1:190446922-190446923	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs542706306	chr1:190446925-190446926	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs559341692	chr1:190446934-190446935	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs552709594	chr1:190446952-190446953	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs528072817	chr1:190446974-190446975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs552080246	chr1:190447024-190447025	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs565423206	chr1:190447064-190447065	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs531200388	chr1:190447071-190447072	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs550783657	chr1:190447085-190447086	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs567471835	chr1:190447127-190447128	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs536354681	chr1:190447173-190447174	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs376729310	chr1:190447241-190447242	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs570859847	chr1:190447274-190447275	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs185941613	chr1:190447302-190447303	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs148749860	chr1:190447307-190447308	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs74130790	chr1:190447328-190447329	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs558880118	chr1:190447329-190447330	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs577884527	chr1:190447338-190447339	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs537297142	chr1:190447339-190447340	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs557204082	chr1:190447342-190447343	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs573871961	chr1:190447377-190447378	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs542792267	chr1:190447398-190447399	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs559163495	chr1:190447427-190447428	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs535079198	chr1:190447463-190447464	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190440000-190448800	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:190440200-190448800	Active TSS	Fetal Intestine Large	intestine
3	chr1:190440800-190448600	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr1:190440800-190448800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:190441200-190448600	Active TSS	Fetal Intestine Small	intestine
6	chr1:190441200-190448600	Active TSS	Right Atrium	heart
7	chr1:190443000-190449600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:190444800-190447200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr1:190445000-190446600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr1:190445000-190447600	Active TSS	Brain Angular Gyrus	brain
11	chr1:190445200-190447200	Weak transcription	Gastric	stomach
12	chr1:190445200-190449000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:190445400-190446600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:190445400-190446800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:190445400-190446800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:190445400-190446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:190445400-190446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:190445400-190447200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:190445400-190447200	Weak transcription	Pancreas	Pancrea
20	chr1:190445400-190447200	Weak transcription	NHLF	lung
21	chr1:190445600-190446600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr1:190445600-190446600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr1:190445600-190446600	Weak transcription	Colonic Mucosa	Colon
24	chr1:190445600-190446800	Active TSS	Fetal Brain Female	brain
25	chr1:190445600-190447000	Weak transcription	Right Ventricle	heart
26	chr1:190445800-190446600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr1:190445800-190446600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:190445800-190446600	Weak transcription	Fetal Stomach	stomach
29	chr1:190445800-190446800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:190446000-190446600	Enhancers	Fetal Brain Male	brain
31	chr1:190446000-190446800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr1:190446200-190446600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr1:190446200-190448800	Active TSS	Brain Germinal Matrix	brain
34	chr1:190446200-190449600	Active TSS	Brain Anterior Caudate	brain
35	chr1:190446200-190450000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:190446600-190446800	Active TSS	Fetal Heart	heart
37	chr1:190446600-190446800	Flanking Active TSS	Fetal Stomach	stomach
38	chr1:190446600-190446800	Bivalent Enhancer	A549	lung
39	chr1:190446600-190447000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr1:190446600-190447000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr1:190446600-190447000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr1:190446600-190447000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr1:190446600-190447000	Flanking Active TSS	Fetal Brain Male	brain
44	chr1:190446600-190447000	Bivalent Enhancer	HUVEC	blood vessel
45	chr1:190446600-190447200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chr1:190446600-190447200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr1:190446600-190447200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:190446600-190447600	Active TSS	Colonic Mucosa	Colon
49	chr1:190446600-190447800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:190446600-190447800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links