Variant report

Variant	esv3339354
Chromosome Location	chr11:64947901-64950749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:862)
CpG islands
(count:672)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64949110-64949306	K562	blood:	n/a	n/a
2	ATF2	chr11:64948366-64948829	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr11:64949149-64949342	K562	blood:	n/a	n/a
4	ATF3	chr11:64949776-64949953	K562	blood:	n/a	n/a
5	BACH1	chr11:64949802-64949837	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:64948571-64949271	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr11:64948417-64948876	A549	lung:	n/a	chr11:64948784-64948797
8	BCLAF1	chr11:64948346-64948729	GM12878	blood:	n/a	chr11:64948382-64948391
9	BCLAF1	chr11:64948372-64948957	GM12878	blood:	n/a	chr11:64948784-64948797 chr11:64948892-64948905 chr11:64948382-64948391 chr11:64948864-64948877
10	BHLHE40	chr11:64948365-64948774	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:64948418-64949624	K562	blood:	n/a	chr11:64948925-64948941 chr11:64948861-64948877
12	BHLHE40	chr11:64948137-64948197	K562	blood:	n/a	n/a
13	BHLHE40	chr11:64949843-64950004	K562	blood:	n/a	n/a
14	BRCA1	chr11:64949162-64949372	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr11:64948367-64948566	HepG2	liver:	n/a	n/a
16	CBX3	chr11:64948469-64949019	K562	blood:	n/a	n/a
17	CBX3	chr11:64949026-64949449	K562	blood:	n/a	n/a
18	CCNT2	chr11:64948365-64949782	K562	blood:	n/a	chr11:64949237-64949246 chr11:64949473-64949482 chr11:64948762-64948771 chr11:64949276-64949296 chr11:64948445-64948454 chr11:64949594-64949603
19	CEBPB	chr11:64948357-64948834	GM12878	blood:	n/a	chr11:64948627-64948638
20	CEBPB	chr11:64948405-64948875	MCF-7	breast:	n/a	chr11:64948627-64948638
21	CEBPB	chr11:64948544-64948798	K562	blood:	n/a	chr11:64948627-64948638
22	CEBPB	chr11:64948540-64948780	A549	lung:	n/a	chr11:64948627-64948638
23	CEBPB	chr11:64948492-64948778	HepG2	liver:	n/a	chr11:64948627-64948638
24	CEBPB	chr11:64948487-64948896	IMR90	lung:	n/a	chr11:64948627-64948638
25	CEBPB	chr11:64948552-64948802	H1-hESC	embryonic stem cell:	n/a	chr11:64948627-64948638
26	CEBPB	chr11:64949270-64949308	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr11:64948472-64948906	Hela-S3	cervix:	n/a	chr11:64948627-64948638
28	CEBPD	chr11:64948953-64949439	HepG2	liver:	n/a	n/a
29	CEBPD	chr11:64949003-64949490	K562	blood:	n/a	n/a
30	CEBPD	chr11:64949017-64949653	K562	blood:	n/a	n/a
31	CHD1	chr11:64949536-64949905	GM12878	blood:	n/a	n/a
32	CHD1	chr11:64948822-64949304	GM12878	blood:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
33	CHD2	chr11:64949185-64949301	HepG2	liver:	n/a	chr11:64949238-64949248
34	CHD2	chr11:64948858-64949413	K562	blood:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
35	CHD2	chr11:64948387-64948515	HepG2	liver:	n/a	n/a
36	CHD2	chr11:64948378-64948769	GM12878	blood:	n/a	n/a
37	CHD2	chr11:64949337-64949340	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr11:64948405-64948943	H1-hESC	embryonic stem cell:	n/a	chr11:64948917-64948927
39	CHD2	chr11:64949093-64949610	GM12878	blood:	n/a	chr11:64949238-64949248
40	CHD2	chr11:64948411-64949760	Hela-S3	cervix:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
41	CREB1	chr11:64948567-64949338	A549	lung:	n/a	n/a
42	CTBP2	chr11:64949424-64950037	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:64948760-64948910	GM12871	blood:	n/a	n/a
44	CTCF	chr11:64948657-64948901	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr11:64947556-64949294	A549	lung:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
46	CTCF	chr11:64948760-64948910	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr11:64948680-64948830	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr11:64948673-64948961	GM19239	blood:	n/a	n/a
49	CTCF	chr11:64948420-64948570	HL-60	blood:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
50	CTCF	chr11:64948460-64948610	AG04450	lung:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64949173-64949223	CMK	blood:	n/a
2	chr11:64949173-64949223	CMK	blood:	n/a
3	chr11:64949046-64949096	AG09319	gingival:	n/a
4	chr11:64948848-64948898	NH-A	brain:	n/a
5	chr11:64948848-64948898	GM19239	blood:	n/a
6	chr11:64949398-64949448	MCF10A-Er-Src	breast:	n/a
7	chr11:64948822-64948872	HCM	heart:	n/a
8	chr11:64948311-64948361	HNPCEpiC	eye:	n/a
9	chr11:64949223-64949273	AG10803	skin:	n/a
10	chr11:64949042-64949092	NB4	blood:	n/a
11	chr11:64949878-64949928	NB4	blood:	n/a
12	chr11:64948848-64948898	HRPEpiC	eye:	n/a
13	chr11:64949042-64949092	AoSMC	blood vessel:	n/a
14	chr11:64948848-64948898	PrEC	prostate:	n/a
15	chr11:64948989-64949039	NHDF-neo	bronchial:	n/a
16	chr11:64948822-64948872	BJ	skin:	n/a
17	chr11:64949173-64949223	HRCEpiC	kidney:	n/a
18	chr11:64949878-64949928	PFSK-1	brain:	n/a
19	chr11:64948848-64948898	CMK	blood:	n/a
20	chr11:64948989-64949039	NB4	blood:	n/a
21	chr11:64949398-64949448	HCT-116	colon:	n/a
22	chr11:64949038-64949088	A549	lung:	n/a
23	chr11:64949038-64949088	SK-N-SH	brain:	n/a
24	chr11:64949042-64949092	MCF10A-Er-Src	breast:	n/a
25	chr11:64949878-64949928	NHDF-neo	bronchial:	n/a
26	chr11:64949042-64949092	ProgFib	skin:	n/a
27	chr11:64948311-64948361	ECC-1	luminal epithelium:	n/a
28	chr11:64948848-64948898	AoSMC	blood vessel:	n/a
29	chr11:64949398-64949448	Jurkat	blood:	n/a
30	chr11:64949878-64949928	AG04449	skin:	fetal
31	chr11:64949223-64949273	Hepatocyte	liver:	n/a
32	chr11:64949878-64949928	GM12891	blood:	n/a
33	chr11:64949038-64949088	HRPEpiC	eye:	n/a
34	chr11:64948311-64948361	NB4	blood:	n/a
35	chr11:64948848-64948898	HEK293	kidney:	embryo
36	chr11:64949042-64949092	HIPEpiC	eye:	n/a
37	chr11:64949038-64949088	RPTEC	kidney:	n/a
38	chr11:64948848-64948898	H1-hESC	embryonic stem cell:	embryo
39	chr11:64948848-64948898	BJ	skin:	n/a
40	chr11:64949046-64949096	HCF	heart:	n/a
41	chr11:64949878-64949928	ECC-1	luminal epithelium:	n/a
42	chr11:64949878-64949928	HRE	kidney:	n/a
43	chr11:64948311-64948361	ProgFib	skin:	n/a
44	chr11:64948822-64948872	HEK293	kidney:	embryo
45	chr11:64948989-64949039	Hela-S3	cervix:	n/a
46	chr11:64949046-64949096	K562	blood:	n/a
47	chr11:64949223-64949273	AG09309	skin:	n/a
48	chr11:64948822-64948872	HCPEpiC	choroid plexus:	n/a
49	chr11:64948311-64948361	HCF	heart:	n/a
50	chr11:64949038-64949088	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:
2	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:
3	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
4	chr11:64949318..64950980-chr11:65546666..65549109,2	MCF-7	breast:
5	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
6	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
7	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
8	chr11:64947686..64949760-chr11:64975928..64978193,2	MCF-7	breast:
9	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
10	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
11	chr11:64899351..64904069-chr11:64950676..64953624,5	K562	blood:
12	chr11:64885115..64885976-chr11:64948064..64949006,5	MCF-7	breast:
13	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
14	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
15	chr11:64948818..64949639-chr5:10249655..10250314,2	Hela-S3	cervix:
16	chr11:64879725..64880624-chr11:64948063..64948868,2	MCF-7	breast:
17	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
18	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
19	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
20	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
21	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
22	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
23	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
24	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
25	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
26	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
27	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
28	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
29	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
30	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
31	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
32	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
33	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
34	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
35	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
36	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
37	chr11:64849453..64851884-chr11:64947314..64948879,2	K562	blood:
38	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
39	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
40	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
41	chr11:64889440..64890069-chr11:64948423..64948930,2	MCF-7	breast:
42	chr11:64948574..64950369-chr11:65028562..65030445,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255200	TF binding region
PGAM1P8	TF binding region
CAPN1	TF binding region
ENSG00000254614	TF binding region
ENSG00000255200	CpG island
PGAM1P8	CpG island
CAPN1	CpG island
ENSG00000254614	CpG island
ENSG00000255173	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000075461	chromatin interactions
ENSG00000174276	chromatin interactions
ENSG00000222477	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000255200	chromatin interactions
ENSG00000197847	chromatin interactions
ENSG00000168061	chromatin interactions
ENSG00000168067	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000014138	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000213465	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000254455	chromatin interactions
ENSG00000168062	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000273003	chromatin interactions
ENSG00000014216	chromatin interactions
ENSG00000204710	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000251562	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186567333	chr11:64947905-64947906	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
2	rs150475224	chr11:64947906-64947907	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
3	rs543800736	chr11:64947929-64947930	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
4	rs563503400	chr11:64947931-64947932	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
5	rs138335781	chr11:64947969-64947970	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
6	rs557333388	chr11:64948002-64948003	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
7	rs149227242	chr11:64948051-64948052	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs560020062	chr11:64948063-64948064	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs528695942	chr11:64948076-64948077	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs548348335	chr11:64948117-64948118	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
11	rs144985612	chr11:64948167-64948168	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
12	rs370165299	chr11:64948272-64948273	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
13	rs3953797	chr11:64948277-64948278	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs550573031	chr11:64948305-64948306	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
15	rs34340579	chr11:64948327-64948328	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
16	rs36001317	chr11:64948353-64948354	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
17	rs112366910	chr11:64948409-64948410	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs539755551	chr11:64948488-64948489	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs555039392	chr11:64948552-64948553	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs12422027	chr11:64948555-64948556	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566369843	chr11:64948579-64948580	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
22	rs535277122	chr11:64948642-64948643	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs555094349	chr11:64948645-64948646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs574613276	chr11:64948680-64948681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
25	rs141999503	chr11:64948711-64948712	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
26	rs557357667	chr11:64948745-64948746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
27	rs371304983	chr11:64948756-64948757	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs577143823	chr11:64948796-64948797	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs375216782	chr11:64948855-64948856	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
30	rs17881576	chr11:64948932-64948933	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs560080713	chr11:64948940-64948941	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs573539982	chr11:64949006-64949007	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs542446481	chr11:64949083-64949084	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs562239019	chr11:64949088-64949089	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs17880457	chr11:64949119-64949120	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	mRNA abundance
36	rs550389675	chr11:64949142-64949143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs17881181	chr11:64949152-64949153	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs532781711	chr11:64949155-64949156	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
39	rs546147894	chr11:64949156-64949157	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
40	rs111300161	chr11:64949169-64949170	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
41	rs566431302	chr11:64949188-64949189	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
42	rs75557976	chr11:64949283-64949284	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
43	rs17878263	chr11:64949365-64949366	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
44	rs548780607	chr11:64949405-64949406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
45	rs559215058	chr11:64949520-64949521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
46	rs370482102	chr11:64949558-64949559	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs141268414	chr11:64949575-64949576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs146825481	chr11:64949652-64949653	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs537577428	chr11:64949689-64949690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
50	rs150781111	chr11:64949697-64949698	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64927400-64948400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:64933600-64948000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:64933800-64948200	Weak transcription	Ovary	ovary
4	chr11:64937000-64948000	Weak transcription	Spleen	Spleen
5	chr11:64937000-64948000	Weak transcription	NHDF-Ad	bronchial
6	chr11:64937200-64948000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:64937600-64948000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:64937800-64948000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:64937800-64948200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:64940000-64948000	Weak transcription	Esophagus	oesophagus
11	chr11:64940800-64948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:64941000-64948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64941000-64948000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:64942400-64948000	Weak transcription	Placenta	Placenta
15	chr11:64942800-64948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:64945000-64948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:64946600-64948000	Weak transcription	Stomach Mucosa	stomach
18	chr11:64947000-64948000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:64947400-64948000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:64947400-64948000	Enhancers	HepG2	liver
21	chr11:64947600-64948000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:64947600-64948000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:64947600-64948000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:64947600-64948000	Enhancers	Primary B cells from cord blood	blood
25	chr11:64947600-64948000	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:64947600-64948000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:64947600-64948000	Enhancers	Liver	Liver
28	chr11:64947600-64948000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:64947600-64948000	Enhancers	Fetal Heart	heart
30	chr11:64947600-64948000	Enhancers	Fetal Intestine Small	intestine
31	chr11:64947600-64948000	Enhancers	Fetal Lung	lung
32	chr11:64947600-64948000	Enhancers	Fetal Muscle Leg	muscle
33	chr11:64947600-64948000	Enhancers	Pancreas	Pancrea
34	chr11:64947600-64948000	Enhancers	Psoas Muscle	Psoas
35	chr11:64947600-64948000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:64947600-64948000	Enhancers	Right Ventricle	heart
37	chr11:64947600-64948000	Enhancers	A549	lung
38	chr11:64947600-64948000	Enhancers	Hela-S3	cervix
39	chr11:64947600-64948000	Enhancers	NHLF	lung
40	chr11:64947600-64948200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr11:64947600-64948200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:64947600-64948400	Flanking Active TSS	NHEK	skin
43	chr11:64947600-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:64947800-64948000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:64947800-64948000	Active TSS	H1 Cell Line	embryonic stem cell

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