Variant report

Variant	esv2753303
Chromosome Location	chr11:32447324-32494924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1080)
CpG islands
(count:4220)
Chromatin interactive
region (count:31)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:32471930-32472203	K562	blood:	n/a	n/a
2	ARID3A	chr11:32454165-32454216	K562	blood:	n/a	n/a
3	ARID3A	chr11:32469772-32470203	K562	blood:	n/a	n/a
4	ARID3A	chr11:32448538-32448699	K562	blood:	n/a	n/a
5	ARID3A	chr11:32454692-32454702	K562	blood:	n/a	n/a
6	ATF1	chr11:32469825-32470108	K562	blood:	n/a	n/a
7	ATF1	chr11:32448358-32448788	K562	blood:	n/a	chr11:32448533-32448547
8	ATF1	chr11:32487920-32488457	K562	blood:	n/a	n/a
9	ATF2	chr11:32448401-32448772	H1-hESC	embryonic stem cell:	n/a	chr11:32448533-32448547
10	ATF2	chr11:32448367-32448863	H1-hESC	embryonic stem cell:	n/a	chr11:32448533-32448547
11	ATF2	chr11:32456014-32456333	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:32448333-32448772	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:32455379-32455942	K562	blood:	n/a	n/a
14	BACH1	chr11:32452728-32452950	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:32460301-32460326	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:32471973-32472168	K562	blood:	n/a	n/a
17	BACH1	chr11:32455973-32456381	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr11:32469821-32470074	GM12878	blood:	n/a	n/a
19	BHLHE40	chr11:32469789-32470176	K562	blood:	n/a	n/a
20	BHLHE40	chr11:32471642-32472338	K562	blood:	n/a	n/a
21	BHLHE40	chr11:32487913-32488542	K562	blood:	n/a	n/a
22	BHLHE40	chr11:32478115-32478187	K562	blood:	n/a	n/a
23	BHLHE40	chr11:32474779-32475036	GM12878	blood:	n/a	n/a
24	BHLHE40	chr11:32448367-32448924	K562	blood:	n/a	n/a
25	BHLHE40	chr11:32474901-32475145	K562	blood:	n/a	n/a
26	BHLHE40	chr11:32454126-32454775	K562	blood:	n/a	n/a
27	BHLHE40	chr11:32469805-32470099	GM12878	blood:	n/a	n/a
28	BHLHE40	chr11:32456917-32457665	K562	blood:	n/a	n/a
29	BHLHE40	chr11:32455078-32456429	K562	blood:	n/a	n/a
30	CBX3	chr11:32455679-32456442	K562	blood:	n/a	n/a
31	CBX3	chr11:32456002-32456405	K562	blood:	n/a	n/a
32	CBX3	chr11:32469725-32470209	K562	blood:	n/a	n/a
33	CBX3	chr11:32488050-32488401	K562	blood:	n/a	n/a
34	CBX3	chr11:32448657-32449024	K562	blood:	n/a	n/a
35	CBX3	chr11:32457827-32458191	K562	blood:	n/a	n/a
36	CBX3	chr11:32457000-32457776	K562	blood:	n/a	n/a
37	CBX3	chr11:32452392-32452763	K562	blood:	n/a	n/a
38	CBX3	chr11:32471738-32472413	K562	blood:	n/a	n/a
39	CBX3	chr11:32455237-32455642	K562	blood:	n/a	n/a
40	CCNT2	chr11:32455902-32457475	K562	blood:	n/a	n/a
41	CCNT2	chr11:32448312-32449106	K562	blood:	n/a	chr11:32448688-32448697
42	CCNT2	chr11:32455203-32455550	K562	blood:	n/a	n/a
43	CCNT2	chr11:32449444-32449576	K562	blood:	n/a	n/a
44	CEBPB	chr11:32457256-32457412	K562	blood:	n/a	n/a
45	CEBPB	chr11:32491354-32491695	A549	lung:	n/a	chr11:32491528-32491539
46	CEBPB	chr11:32490628-32490894	K562	blood:	n/a	chr11:32490780-32490791
47	CEBPB	chr11:32491370-32491675	H1-hESC	embryonic stem cell:	n/a	chr11:32491528-32491539
48	CEBPB	chr11:32469933-32470318	A549	lung:	n/a	chr11:32470164-32470181 chr11:32470192-32470204 chr11:32470165-32470178
49	CEBPB	chr11:32473448-32473773	K562	blood:	n/a	n/a
50	CEBPB	chr11:32472024-32472300	K562	blood:	n/a	n/a

(count:4220 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32457162-32457212	Hepatocyte	liver:	n/a
2	chr11:32452839-32452889	HepG2	liver:	n/a
3	chr11:32455444-32455494	SK-N-SH_RA	brain:	n/a
4	chr11:32450104-32450154	MCF-7	breast:	n/a
5	chr11:32461240-32461290	HRCEpiC	kidney:	n/a
6	chr11:32449638-32449688	AG04449	skin:	fetal
7	chr11:32449163-32449213	GM19239	blood:	n/a
8	chr11:32452592-32452642	HL-60	blood:	n/a
9	chr11:32449821-32449871	ECC-1	luminal epithelium:	n/a
10	chr11:32457878-32457928	HCT-116	colon:	n/a
11	chr11:32452592-32452642	ECC-1	luminal epithelium:	n/a
12	chr11:32457162-32457212	Hepatocyte	liver:	n/a
13	chr11:32452839-32452889	HepG2	liver:	n/a
14	chr11:32455444-32455494	SK-N-SH_RA	brain:	n/a
15	chr11:32450104-32450154	MCF-7	breast:	n/a
16	chr11:32461240-32461290	HRCEpiC	kidney:	n/a
17	chr11:32449638-32449688	AG04449	skin:	fetal
18	chr11:32449163-32449213	GM19239	blood:	n/a
19	chr11:32452592-32452642	HL-60	blood:	n/a
20	chr11:32449821-32449871	ECC-1	luminal epithelium:	n/a
21	chr11:32457878-32457928	HCT-116	colon:	n/a
22	chr11:32452592-32452642	ECC-1	luminal epithelium:	n/a
23	chr11:32456340-32456390	HIPEpiC	eye:	n/a
24	chr11:32457727-32457777	HEEpiC	esophagus:	n/a
25	chr11:32449163-32449213	HNPCEpiC	eye:	n/a
26	chr11:32448067-32448117	AG10803	skin:	n/a
27	chr11:32457257-32457307	HAEpiC	amniotic membrane:	n/a
28	chr11:32459760-32459810	SK-N-SH_RA	brain:	n/a
29	chr11:32450692-32450742	HRPEpiC	eye:	n/a
30	chr11:32460587-32460637	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:32455642-32455692	PFSK-1	brain:	n/a
32	chr11:32459057-32459107	HMEC	breast:	n/a
33	chr11:32454718-32454768	RPTEC	kidney:	n/a
34	chr11:32458966-32459016	BE2_C	brain:	n/a
35	chr11:32460656-32460706	PFSK-1	brain:	n/a
36	chr11:32456759-32456809	PANC-1	pancreas:	n/a
37	chr11:32454964-32455014	HUVEC	blood vessel:	n/a
38	chr11:32448678-32448728	HIPEpiC	eye:	n/a
39	chr11:32459057-32459107	BE2_C	brain:	n/a
40	chr11:32448769-32448819	SKMC	muscle:	n/a
41	chr11:32457727-32457777	HL-60	blood:	n/a
42	chr11:32456910-32456960	HIPEpiC	eye:	n/a
43	chr11:32455735-32455785	HUVEC	blood vessel:	n/a
44	chr11:32450486-32450536	GM06990	blood:	n/a
45	chr11:32455735-32455785	HCPEpiC	choroid plexus:	n/a
46	chr11:32460656-32460706	AG10803	skin:	n/a
47	chr11:32456912-32456962	AG10803	skin:	n/a
48	chr11:32455025-32455075	AG04449	skin:	fetal
49	chr11:32449821-32449871	AG09309	skin:	n/a
50	chr11:32458966-32459016	RPTEC	kidney:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32455134..32458517-chr11:32603988..32607695,5	K562	blood:
2	chr11:32453512..32456485-chr11:32618384..32621260,2	K562	blood:
3	chr11:32472073..32474042-chr11:32651003..32653929,2	K562	blood:
4	chr11:32455462..32457058-chr11:32608687..32611459,2	K562	blood:
5	chr11:32413863..32417759-chr11:32446575..32449998,5	K562	blood:
6	chr11:32465131..32467084-chr11:32469130..32471983,4	K562	blood:
7	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
8	chr11:32455544..32456179-chr21:40555264..40555769,2	NB4	blood:
9	chr11:32401045..32403207-chr11:32470669..32473289,2	K562	blood:
10	chr11:32420914..32422943-chr11:32448387..32450097,2	K562	blood:
11	chr11:32486682..32489640-chr11:32492435..32494827,2	K562	blood:
12	chr11:32474371..32477290-chr11:32479314..32481826,2	K562	blood:
13	chr11:32468457..32470421-chr11:32472103..32475103,3	K562	blood:
14	chr11:32486682..32489640-chr11:32492435..32494827,2	K562	blood:
15	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
16	chr11:32470229..32472520-chr11:32590568..32592522,2	K562	blood:
17	chr11:32472024..32473812-chr11:32475588..32478251,3	K562	blood:
18	chr11:32470724..32474567-chr11:32604115..32608445,3	K562	blood:
19	chr11:32460248..32463699-chr11:32486018..32490383,4	K562	blood:
20	chr11:32472024..32473812-chr11:32475588..32478251,3	K562	blood:
21	chr11:32465131..32467084-chr11:32469130..32471983,4	K562	blood:
22	chr11:32474371..32477290-chr11:32479314..32481826,2	K562	blood:
23	chr11:32426521..32428841-chr11:32446378..32448492,2	K562	blood:
24	chr11:32468457..32470421-chr11:32472103..32475103,3	K562	blood:
25	chr11:32445943..32448522-chr11:32612638..32615463,2	K562	blood:
26	chr11:32455594..32457792-chr11:32483688..32485751,2	K562	blood:
27	chr11:32407695..32408684-chr11:32469407..32470404,2	MCF-7	breast:
28	chr11:32460248..32463699-chr11:32486018..32490383,4	K562	blood:
29	chr11:32447031..32449133-chr11:32603580..32605616,2	K562	blood:
30	chr11:32455883..32456817-chr20:34329968..34330790,2	NB4	blood:
31	chr11:32469563..32470369-chr11:32583163..32583671,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32457125-32457392	ENSG00000183242
2	lnc-EIF3M-2	chr11:32457064-32457392	ENSG00000183242
3	lnc-EIF3M-2	chr11:32467885-32468261	NONHSAT018664
4	lnc-EIF3M-2	chr11:32457285-32457392	NR_023920
5	lnc-EIF3M-2	chr11:32457585-32458383	NONHSAT018663
6	lnc-EIF3M-2	chr11:32458341-32458597	ENSG00000183242
7	lnc-EIF3M-2	chr11:32459391-32460253	ENSG00000183242
8	lnc-EIF3M-2	chr11:32459475-32461618	ENSG00000183242
9	lnc-EIF3M-2	chr11:32479461-32479509	ENSG00000183242
10	lnc-EIF3M-2	chr11:32473567-32473677	ENSG00000183242
11	lnc-EIF3M-2	chr11:32459169-32459247	ENSG00000183242
12	lnc-EIF3M-2	chr11:32459391-32461618	NONHSAT018663
13	lnc-EIF3M-2	chr11:32460418-32460678	ENSG00000183242
14	lnc-EIF3M-2	chr11:32459391-32461620	NR_023920
15	lnc-EIF3M-2	chr11:32457322-32457392	ENSG00000183242
16	lnc-EIF3M-2	chr11:32457347-32457392	ENSG00000183242
17	lnc-EIF3M-2	chr11:32459916-32460136	ENSG00000183242
18	lnc-EIF3M-2	chr11:32459391-32459872	ENSG00000183242
19	lnc-EIF3M-2	chr11:32480185-32480315	ENSG00000183242
20	lnc-EIF3M-2	chr11:32474808-32475724	ENSG00000183242
21	lnc-EIF3M-2	chr11:32459391-32462950	ENSG00000183242
22	lnc-EIF3M-2	chr11:32460325-32460505	NONHSAT018664
23	lnc-EIF3M-2	chr11:32458616-32458743	ENSG00000183242
24	lnc-EIF3M-2	chr11:32457585-32460136	NONHSAT018664

No data

Variant related genes	Relation type
WT1-AS	TF binding region
WT1	TF binding region
WT1-AS	CpG island
WT1	CpG island
ENSG00000131051	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000184937	chromatin interactions
ENSG00000149100	chromatin interactions
ENSG00000183242	chromatin interactions
ENSG00000060749	chromatin interactions
ENSG00000270903	chromatin interactions

Extended variants
information (count: 2041 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2041 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7110547	chr11:32447347-32447348	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188739704	chr11:32447351-32447352	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34819150	chr11:32447375-32447376	Bivalent Enhancer Enhancers Genic enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372695615	chr11:32447421-32447422	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551466958	chr11:32447449-32447450	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564894254	chr11:32447544-32447545	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527501131	chr11:32447545-32447546	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113945436	chr11:32447558-32447559	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547638447	chr11:32447601-32447602	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529223168	chr11:32447605-32447606	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567549556	chr11:32447627-32447628	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536589930	chr11:32447657-32447658	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550195773	chr11:32447700-32447701	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181206185	chr11:32447715-32447716	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs538716256	chr11:32447732-32447733	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145995838	chr11:32447739-32447740	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572477362	chr11:32447746-32447747	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186901506	chr11:32447756-32447757	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114596230	chr11:32447780-32447781	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574791275	chr11:32447829-32447830	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs5030186	chr11:32447842-32447843	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs5030185	chr11:32447864-32447865	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs5030184	chr11:32447867-32447868	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544747457	chr11:32447872-32447873	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374709415	chr11:32447908-32447909	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564969354	chr11:32447919-32447920	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527426570	chr11:32448054-32448055	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547602700	chr11:32448174-32448175	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs5030183	chr11:32448205-32448206	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs5030182	chr11:32448206-32448207	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs397715251	chr11:32448207-32448208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs5030181	chr11:32448218-32448219	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550107776	chr11:32448230-32448231	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550584836	chr11:32448238-32448239	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567725669	chr11:32448239-32448240	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369786717	chr11:32448240-32448241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs5030179	chr11:32448255-32448256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552324308	chr11:32448300-32448301	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs77801880	chr11:32448319-32448320	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs534838825	chr11:32448354-32448355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375045998	chr11:32448386-32448387	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs113984094	chr11:32448414-32448415	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs568326703	chr11:32448415-32448416	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs537315132	chr11:32448441-32448442	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs557654276	chr11:32448452-32448453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs577493358	chr11:32448541-32448542	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs544971131	chr11:32448554-32448555	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs5030178	chr11:32448569-32448570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35925541	chr11:32448594-32448595	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541331357	chr11:32448686-32448687	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21518781	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32438800-32447800	Weak transcription	Ovary	ovary
2	chr11:32440800-32448400	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:32443400-32447800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:32443600-32447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:32445400-32447800	Enhancers	Dnd41	blood
6	chr11:32446400-32447400	Weak transcription	K562	blood
7	chr11:32446600-32447600	Genic enhancers	Fetal Kidney	kidney
8	chr11:32446800-32447600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr11:32447000-32447400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr11:32447200-32448400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:32447400-32447600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr11:32447400-32447600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr11:32447400-32447800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr11:32447400-32447800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr11:32447400-32447800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:32447400-32448000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:32447400-32448000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:32447400-32448000	Genic enhancers	K562	blood
19	chr11:32447600-32447800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr11:32447600-32447800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr11:32447600-32447800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr11:32447600-32447800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr11:32447600-32447800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:32447600-32447800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr11:32447600-32447800	Bivalent Enhancer	Lung	lung
26	chr11:32447600-32447800	ZNF genes & repeats	Spleen	Spleen
27	chr11:32447600-32448000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:32447600-32448000	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
29	chr11:32447600-32448000	Enhancers	Right Atrium	heart
30	chr11:32447600-32448200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr11:32447600-32448200	Bivalent Enhancer	Left Ventricle	heart
32	chr11:32447600-32448200	Enhancers	Right Ventricle	heart
33	chr11:32447600-32448400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:32447600-32448400	Bivalent Enhancer	Fetal Thymus	thymus
35	chr11:32447600-32448800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:32447600-32448800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr11:32447600-32449200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:32447600-32449200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:32447600-32449800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr11:32447600-32450000	Bivalent Enhancer	Fetal Heart	heart
41	chr11:32447800-32448000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
42	chr11:32447800-32448000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr11:32447800-32448000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr11:32447800-32448000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:32447800-32448000	Bivalent Enhancer	Psoas Muscle	Psoas
46	chr11:32447800-32448000	Enhancers	Spleen	Spleen
47	chr11:32447800-32448200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
48	chr11:32447800-32448200	Bivalent Enhancer	Fetal Brain Female	brain
49	chr11:32447800-32448400	Bivalent Enhancer	Brain Hippocampus Middle	brain
50	chr11:32447800-32448600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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