Variant report

Variant	nsv580972
Chromosome Location	chr2:11808654-11854012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1670)
CpG islands
(count:1647)
Chromatin interactive
region (count:61)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1670 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:11816354-11816554	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:11810097-11810169	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:11833049-11833296	K562	blood:	n/a	n/a
4	ARID3A	chr2:11833098-11833520	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:11828671-11828855	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:11838473-11838969	HepG2	liver:	n/a	n/a
7	ATF1	chr2:11853977-11854301	K562	blood:	n/a	n/a
8	ATF2	chr2:11809910-11810281	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:11848262-11848548	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:11822119-11822594	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:11809923-11810250	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr2:11828449-11828860	GM12878	blood:	n/a	chr2:11828727-11828735
13	BDP1	chr2:11811845-11812428	Hela-S3	cervix:	n/a	n/a
14	BHLHE40	chr2:11828552-11828886	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:11833095-11833266	K562	blood:	n/a	n/a
16	BHLHE40	chr2:11842203-11842424	HepG2	liver:	n/a	n/a
17	BHLHE40	chr2:11842072-11842448	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:11809909-11810261	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:11828570-11828810	K562	blood:	n/a	n/a
20	BHLHE40	chr2:11833050-11833342	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:11816212-11816585	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:11822197-11822487	HepG2	liver:	n/a	n/a
23	BHLHE40	chr2:11820796-11821111	HepG2	liver:	n/a	n/a
24	BHLHE40	chr2:11853965-11854281	K562	blood:	n/a	n/a
25	BHLHE40	chr2:11838556-11838651	K562	blood:	n/a	n/a
26	BHLHE40	chr2:11822183-11822552	K562	blood:	n/a	n/a
27	BHLHE40	chr2:11838290-11838747	HepG2	liver:	n/a	n/a
28	BHLHE40	chr2:11841869-11841971	K562	blood:	n/a	n/a
29	BRCA1	chr2:11809933-11810254	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr2:11846887-11846935	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr2:11820466-11820789	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr2:11833042-11833435	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr2:11822327-11822480	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:11816206-11816757	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr2:11809981-11810184	HepG2	liver:	n/a	n/a
36	CBX3	chr2:11828412-11828910	K562	blood:	n/a	n/a
37	CCNT2	chr2:11809750-11810227	K562	blood:	n/a	n/a
38	CCNT2	chr2:11853945-11854259	K562	blood:	n/a	n/a
39	CEBPB	chr2:11849950-11850006	A549	lung:	n/a	n/a
40	CEBPB	chr2:11822239-11822441	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:11825186-11825316	K562	blood:	n/a	n/a
42	CEBPB	chr2:11828306-11828727	MCF-7	breast:	n/a	n/a
43	CEBPB	chr2:11820527-11820874	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:11828302-11828863	A549	lung:	n/a	n/a
45	CEBPB	chr2:11851394-11851577	A549	lung:	n/a	n/a
46	CEBPB	chr2:11816229-11816564	HepG2	liver:	n/a	n/a
47	CEBPB	chr2:11828371-11828861	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr2:11828292-11828636	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:11813520-11813714	A549	lung:	n/a	n/a
50	CEBPB	chr2:11818074-11818212	Hela-S3	cervix:	n/a	chr2:11818128-11818139 chr2:11818130-11818141 chr2:11818177-11818185

(count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11822287-11822337	GM06990	blood:	n/a
2	chr2:11810631-11810681	HRCEpiC	kidney:	n/a
3	chr2:11810365-11810415	SK-N-MC	brain:	n/a
4	chr2:11809997-11810047	HCPEpiC	choroid plexus:	n/a
5	chr2:11809681-11809731	PANC-1	pancreas:	n/a
6	chr2:11810183-11810233	PFSK-1	brain:	n/a
7	chr2:11810508-11810558	AG04450	lung:	fetal
8	chr2:11809997-11810047	Jurkat	blood:	n/a
9	chr2:11850727-11850777	ovcar-3	ovarian:	n/a
10	chr2:11810631-11810681	PANC-1	pancreas:	n/a
11	chr2:11818012-11818062	HRE	kidney:	n/a
12	chr2:11810365-11810415	GM12892	blood:	n/a
13	chr2:11810534-11810584	H1-hESC	embryonic stem cell:	embryo
14	chr2:11810173-11810223	GM19239	blood:	n/a
15	chr2:11822456-11822506	PFSK-1	brain:	n/a
16	chr2:11820565-11820615	AoSMC	blood vessel:	n/a
17	chr2:11828697-11828747	HepG2	liver:	n/a
18	chr2:11820565-11820615	T-47D	breast:	n/a
19	chr2:11822101-11822151	SK-N-SH_RA	brain:	n/a
20	chr2:11828697-11828747	HL-60	blood:	n/a
21	chr2:11809681-11809731	IMR90	lung:	fetal
22	chr2:11828738-11828788	HUVEC	blood vessel:	n/a
23	chr2:11810403-11810453	AG09309	skin:	n/a
24	chr2:11810173-11810223	T-47D	breast:	n/a
25	chr2:11828738-11828788	MCF-7	breast:	n/a
26	chr2:11810631-11810681	NB4	blood:	n/a
27	chr2:11809997-11810047	GM06990	blood:	n/a
28	chr2:11810403-11810453	SK-N-SH	brain:	n/a
29	chr2:11810534-11810584	HUVEC	blood vessel:	n/a
30	chr2:11850727-11850777	PrEC	prostate:	n/a
31	chr2:11810683-11810733	PANC-1	pancreas:	n/a
32	chr2:11822101-11822151	AG04449	skin:	fetal
33	chr2:11822456-11822506	HCPEpiC	choroid plexus:	n/a
34	chr2:11818012-11818062	HAEpiC	amniotic membrane:	n/a
35	chr2:11810173-11810223	HMEC	breast:	n/a
36	chr2:11809858-11809908	ProgFib	skin:	n/a
37	chr2:11822560-11822610	HEEpiC	esophagus:	n/a
38	chr2:11822690-11822740	SK-N-MC	brain:	n/a
39	chr2:11810631-11810681	AG09319	gingival:	n/a
40	chr2:11828697-11828747	ProgFib	skin:	n/a
41	chr2:11822690-11822740	IMR90	lung:	fetal
42	chr2:11838013-11838063	A549	lung:	n/a
43	chr2:11810597-11810647	NB4	blood:	n/a
44	chr2:11822287-11822337	GM12891	blood:	n/a
45	chr2:11828758-11828808	K562	blood:	n/a
46	chr2:11822155-11822205	AG09319	gingival:	n/a
47	chr2:11828738-11828788	ovcar-3	ovarian:	n/a
48	chr2:11828697-11828747	RPTEC	kidney:	n/a
49	chr2:11822287-11822337	GM12892	blood:	n/a
50	chr2:11810183-11810233	MCF-7	breast:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:11755856..11757722-chr2:11823519..11825566,2	MCF-7	breast:
2	chr2:11832816..11833693-chr2:11918698..11919916,5	K562	blood:
3	chr2:11851055..11853217-chr2:11855001..11857096,3	MCF-7	breast:
4	chr2:11634107..11636070-chr2:11826833..11828580,2	MCF-7	breast:
5	chr2:11606289..11608008-chr2:11821742..11823591,2	MCF-7	breast:
6	chr2:11832559..11835214-chr2:11848775..11850407,2	MCF-7	breast:
7	chr2:11827540..11829449-chr2:11917800..11919744,2	K562	blood:
8	chr2:11850883..11854568-chr2:11860179..11862646,3	MCF-7	breast:
9	chr2:11729479..11730582-chr2:11821969..11822816,4	K562	blood:
10	chr2:11850587..11853159-chr2:11857216..11858736,3	K562	blood:
11	chr2:11787730..11788579-chr2:11822117..11822781,2	MCF-7	breast:
12	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
13	chr2:11837517..11840283-chr2:11849750..11852700,2	MCF-7	breast:
14	chr2:11617734..11619010-chr2:11821851..11822584,4	K562	blood:
15	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
16	chr2:11803893..11805526-chr2:11807982..11810176,2	K562	blood:
17	chr2:11828002..11829194-chr2:11918509..11920102,11	K562	blood:
18	chr2:11845672..11848485-chr2:11854738..11857350,2	K562	blood:
19	chr2:11821773..11824708-chr2:11826423..11828172,3	K562	blood:
20	chr2:11832958..11833976-chr2:11924790..11925426,3	MCF-7	breast:
21	chr2:11726425..11728921-chr2:11823603..11825849,2	K562	blood:
22	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
23	chr2:11850587..11853159-chr2:11857216..11858736,2	K562	blood:
24	chr2:11782766..11783675-chr2:11821942..11822730,4	MCF-7	breast:
25	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
26	chr2:11831783..11832525-chr2:11919378..11919951,2	MCF-7	breast:
27	chr2:11821199..11824708-chr2:11826185..11828507,3	K562	blood:
28	chr2:11272435..11273356-chr2:11821946..11822827,2	K562	blood:
29	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
30	chr2:11821899..11822785-chr2:11919211..11919733,2	MCF-7	breast:
31	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
32	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:
33	chr2:11815154..11818041-chr2:11818833..11820427,2	MCF-7	breast:
34	chr2:11832588..11833837-chr2:11918873..11919890,5	MCF-7	breast:
35	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
36	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
37	chr2:11825505..11827525-chr2:11905750..11908186,2	K562	blood:
38	chr2:11804337..11807531-chr2:11808380..11811214,3	MCF-7	breast:
39	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
40	chr2:11617820..11619664-chr2:11828813..11830346,2	MCF-7	breast:
41	chr2:11842746..11844710-chr2:11858311..11861205,2	K562	blood:
42	chr2:11837517..11840283-chr2:11849750..11852700,2	MCF-7	breast:
43	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
44	chr2:11850515..11852161-chr2:11877592..11880491,2	MCF-7	breast:
45	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:
46	chr2:11801036..11803867-chr2:11806638..11809644,3	MCF-7	breast:
47	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:
48	chr2:11680434..11682728-chr2:11821990..11824270,2	MCF-7	breast:
49	chr2:11832764..11833679-chr2:11919280..11919852,3	MCF-7	breast:
50	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GREB1-1	chr2:11821587-11821618	ENSG00000228496.1
2	lnc-GREB1-1	chr2:11821586-11821618	ENSG00000228496.1
3	lnc-GREB1-1	chr2:11822317-11823454	ENSG00000228496.1
4	lnc-GREB1-1	chr2:11822424-11823449	ENSG00000228496.1

No data

Variant related genes	Relation type
NTSR2	TF binding region
ENSG00000228496	TF binding region
LPIN1	TF binding region
ENSG00000230044	TF binding region
NTSR2	CpG island
ENSG00000228496	CpG island
LPIN1	CpG island
ENSG00000230044	CpG island
ENSG00000169016	chromatin interactions
ENSG00000265056	chromatin interactions
ENSG00000150873	chromatin interactions
ENSG00000228496	chromatin interactions
ENSG00000230790	chromatin interactions
ENSG00000264010	chromatin interactions
ENSG00000230044	chromatin interactions
ENSG00000196208	chromatin interactions
ENSG00000134324	chromatin interactions
ENSG00000203643	chromatin interactions
ENSG00000145063	chromatin interactions

Extended variants
information (count: 1856 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4669765	chr2:11808654-11808655	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4669766	chr2:11808725-11808726	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569947464	chr2:11808767-11808768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530889400	chr2:11808788-11808789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549423277	chr2:11808789-11808790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4669767	chr2:11808864-11808865	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572559812	chr2:11808876-11808877	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79333363	chr2:11808885-11808886	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189210535	chr2:11808898-11808899	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181163528	chr2:11808924-11808925	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11887874	chr2:11809032-11809033	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372434558	chr2:11809088-11809089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185571788	chr2:11809103-11809104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377190738	chr2:11809143-11809144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375647018	chr2:11809147-11809148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11689037	chr2:11809161-11809162	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4669768	chr2:11809236-11809237	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573575582	chr2:11809248-11809249	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188662979	chr2:11809323-11809324	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544199820	chr2:11809381-11809382	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181494071	chr2:11809389-11809390	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562306476	chr2:11809445-11809446	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4578832	chr2:11809513-11809514	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11689220	chr2:11809517-11809518	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116732201	chr2:11809566-11809567	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7425038	chr2:11809587-11809588	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561597675	chr2:11809603-11809604	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528781692	chr2:11809615-11809616	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374987241	chr2:11809625-11809626	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199659575	chr2:11809650-11809651	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200649974	chr2:11809671-11809672	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs202147891	chr2:11809681-11809682	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369763734	chr2:11809750-11809751	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11556848	chr2:11809754-11809755	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17853770	chr2:11809832-11809833	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373013375	chr2:11809848-11809849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539180082	chr2:11809881-11809882	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377350908	chr2:11809894-11809895	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569704296	chr2:11809910-11809911	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371151625	chr2:11809963-11809964	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376195308	chr2:11810016-11810017	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs151000282	chr2:11810022-11810023	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146548287	chr2:11810025-11810026	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11556847	chr2:11810064-11810065	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572448656	chr2:11810070-11810071	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114415067	chr2:11810091-11810092	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573640750	chr2:11810092-11810093	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6432225	chr2:11810095-11810096	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113661052	chr2:11810118-11810119	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564129329	chr2:11810122-11810123	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	20607354	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11798200-11809800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11800400-11809200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11807400-11815200	Weak transcription	Hela-S3	cervix
4	chr2:11808800-11809000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
5	chr2:11809200-11810200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11809200-11810400	Active TSS	Brain Cingulate Gyrus	brain
7	chr2:11809200-11810800	Enhancers	Ovary	ovary
8	chr2:11809400-11810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:11809400-11810600	Active TSS	Brain Anterior Caudate	brain
10	chr2:11809600-11809800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:11809600-11809800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:11809600-11809800	Enhancers	Right Ventricle	heart
13	chr2:11809600-11809800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:11809600-11809800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
15	chr2:11809600-11810000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:11809600-11810200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:11809600-11810200	Bivalent Enhancer	Lung	lung
18	chr2:11809600-11810400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr2:11809600-11810400	Bivalent Enhancer	Spleen	Spleen
20	chr2:11809600-11810600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr2:11809600-11810600	Enhancers	Left Ventricle	heart
22	chr2:11809600-11810600	Enhancers	Pancreas	Pancrea
23	chr2:11809800-11810000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:11809800-11810000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:11809800-11810000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:11809800-11810000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:11809800-11810000	Flanking Active TSS	Right Ventricle	heart
28	chr2:11809800-11810000	Bivalent Enhancer	HepG2	liver
29	chr2:11809800-11810200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr2:11809800-11810200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr2:11809800-11810200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr2:11809800-11810200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:11809800-11810200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:11809800-11810200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:11809800-11810200	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr2:11809800-11810200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr2:11809800-11810200	Enhancers	Esophagus	oesophagus
38	chr2:11809800-11810200	Bivalent Enhancer	HMEC	breast
39	chr2:11809800-11810400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:11809800-11810400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:11809800-11810400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:11809800-11810400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:11809800-11810400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:11809800-11810400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:11809800-11810400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:11809800-11810400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:11809800-11810400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:11809800-11810400	Enhancers	Liver	Liver
49	chr2:11809800-11810400	Active TSS	Brain Angular Gyrus	brain
50	chr2:11809800-11810400	Bivalent Enhancer	Fetal Brain Male	brain

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