Variant report

Variant	esv3407193
Chromosome Location	chr11:47290401-47292949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1042)
CpG islands
(count:917)
Chromatin interactive
region (count:53)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47292332-47292728	K562	blood:	n/a	n/a
2	ARID3A	chr11:47292479-47292675	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:47290442-47290976	K562	blood:	n/a	n/a
4	ARID3A	chr11:47291618-47291798	HepG2	liver:	n/a	n/a
5	ARID3A	chr11:47291463-47291694	K562	blood:	n/a	n/a
6	ARID3A	chr11:47290484-47291125	HepG2	liver:	n/a	n/a
7	ATF1	chr11:47292311-47293033	K562	blood:	n/a	n/a
8	ATF2	chr11:47290448-47291692	GM12878	blood:	n/a	n/a
9	ATF3	chr11:47290891-47291155	K562	blood:	n/a	n/a
10	ATF3	chr11:47291613-47291849	K562	blood:	n/a	n/a
11	BACH1	chr11:47289900-47291723	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:47290535-47290991	K562	blood:	n/a	n/a
13	BACH1	chr11:47292617-47292624	K562	blood:	n/a	n/a
14	BCL3	chr11:47290624-47291707	A549	lung:	n/a	chr11:47291220-47291233 chr11:47291201-47291214 chr11:47291224-47291237 chr11:47291254-47291267
15	BCL3	chr11:47290703-47291171	A549	lung:	n/a	n/a
16	BCL3	chr11:47291332-47291864	GM12878	blood:	n/a	chr11:47291742-47291755 chr11:47291743-47291756
17	BCLAF1	chr11:47291481-47291880	GM12878	blood:	n/a	chr11:47291742-47291755 chr11:47291743-47291756
18	BCLAF1	chr11:47290367-47291305	GM12878	blood:	n/a	chr11:47291220-47291233 chr11:47291201-47291214 chr11:47291224-47291237 chr11:47290537-47290546 chr11:47291254-47291267
19	BHLHE40	chr11:47290710-47291797	A549	lung:	n/a	chr11:47291200-47291216 chr11:47291737-47291753 chr11:47290951-47290972 chr11:47291629-47291645
20	BHLHE40	chr11:47290393-47291853	HepG2	liver:	n/a	chr11:47291200-47291216 chr11:47291737-47291753 chr11:47290951-47290972 chr11:47291629-47291645
21	BHLHE40	chr11:47292150-47292816	K562	blood:	n/a	n/a
22	BHLHE40	chr11:47292430-47292762	GM12878	blood:	n/a	n/a
23	BHLHE40	chr11:47290427-47291914	GM12878	blood:	n/a	chr11:47291200-47291216 chr11:47291737-47291753 chr11:47290951-47290972 chr11:47291629-47291645
24	BHLHE40	chr11:47290161-47291878	K562	blood:	n/a	chr11:47291200-47291216 chr11:47291737-47291753 chr11:47290951-47290972 chr11:47291629-47291645
25	BRCA1	chr11:47292264-47292832	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr11:47290694-47290924	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr11:47291422-47291695	HepG2	liver:	n/a	n/a
28	BRCA1	chr11:47290472-47291797	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr11:47290879-47291185	HepG2	liver:	n/a	n/a
30	CBX3	chr11:47292313-47292868	K562	blood:	n/a	n/a
31	CBX3	chr11:47290189-47291670	K562	blood:	n/a	n/a
32	CCNT2	chr11:47290451-47291878	K562	blood:	n/a	chr11:47291632-47291641 chr11:47290695-47290704 chr11:47291309-47291318
33	CCNT2	chr11:47292128-47292994	K562	blood:	n/a	chr11:47292348-47292357
34	CEBPB	chr11:47290665-47291113	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:47292306-47292676	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:47290350-47291242	GM12878	blood:	n/a	n/a
37	CEBPB	chr11:47291424-47291518	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr11:47291371-47291645	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr11:47291334-47291853	HepG2	liver:	n/a	n/a
40	CEBPD	chr11:47290747-47291948	HepG2	liver:	n/a	n/a
41	CHD1	chr11:47290267-47291857	GM12878	blood:	n/a	n/a
42	CHD1	chr11:47290451-47291813	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr11:47290345-47292045	IMR90	lung:	n/a	n/a
44	CHD2	chr11:47290416-47291858	GM12878	blood:	n/a	n/a
45	CHD2	chr11:47290763-47291532	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr11:47290317-47291882	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr11:47290290-47291619	K562	blood:	n/a	n/a
48	CHD2	chr11:47290513-47291700	HepG2	liver:	n/a	n/a
49	CREB1	chr11:47291412-47291879	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr11:47290427-47291942	GM12878	blood:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47291423-47291473	MCF-7	breast:	n/a
2	chr11:47291487-47291537	SAEC	small airway:	n/a
3	chr11:47291423-47291473	MCF-7	breast:	n/a
4	chr11:47291487-47291537	SAEC	small airway:	n/a
5	chr11:47290730-47290780	NH-A	brain:	n/a
6	chr11:47290825-47290875	PrEC	prostate:	n/a
7	chr11:47290882-47290932	Hela-S3	cervix:	n/a
8	chr11:47291487-47291537	HIPEpiC	eye:	n/a
9	chr11:47290859-47290909	CMK	blood:	n/a
10	chr11:47291487-47291537	SKMC	muscle:	n/a
11	chr11:47291501-47291551	HCPEpiC	choroid plexus:	n/a
12	chr11:47291038-47291088	MCF-7	breast:	n/a
13	chr11:47291423-47291473	LNCaP	prostate:	n/a
14	chr11:47291501-47291551	HRCEpiC	kidney:	n/a
15	chr11:47291490-47291540	PrEC	prostate:	n/a
16	chr11:47290825-47290875	MCF10A-Er-Src	breast:	n/a
17	chr11:47290730-47290780	H1-hESC	embryonic stem cell:	embryo
18	chr11:47290730-47290780	Caco-2	colon:	n/a
19	chr11:47290859-47290909	MCF-7	breast:	n/a
20	chr11:47290859-47290909	PANC-1	pancreas:	n/a
21	chr11:47291038-47291088	RPTEC	kidney:	n/a
22	chr11:47291501-47291551	HMEC	breast:	n/a
23	chr11:47290613-47290663	HEEpiC	esophagus:	n/a
24	chr11:47291487-47291537	HepG2	liver:	n/a
25	chr11:47291493-47291543	IMR90	lung:	fetal
26	chr11:47291227-47291277	NB4	blood:	n/a
27	chr11:47291490-47291540	SK-N-SH	brain:	n/a
28	chr11:47290730-47290780	LNCaP	prostate:	n/a
29	chr11:47291423-47291473	GM12892	blood:	n/a
30	chr11:47291846-47291896	PrEC	prostate:	n/a
31	chr11:47291501-47291551	ECC-1	luminal epithelium:	n/a
32	chr11:47290893-47290943	NH-A	brain:	n/a
33	chr11:47290613-47290663	ProgFib	skin:	n/a
34	chr11:47291487-47291537	AG04450	lung:	fetal
35	chr11:47291501-47291551	HEEpiC	esophagus:	n/a
36	chr11:47291490-47291540	HRCEpiC	kidney:	n/a
37	chr11:47290613-47290663	RPTEC	kidney:	n/a
38	chr11:47291227-47291277	HUVEC	blood vessel:	n/a
39	chr11:47291227-47291277	HEEpiC	esophagus:	n/a
40	chr11:47291501-47291551	AG09309	skin:	n/a
41	chr11:47291490-47291540	HEEpiC	esophagus:	n/a
42	chr11:47291038-47291088	NHDF-neo	bronchial:	n/a
43	chr11:47290825-47290875	HUVEC	blood vessel:	n/a
44	chr11:47290893-47290943	PrEC	prostate:	n/a
45	chr11:47290859-47290909	K562	blood:	n/a
46	chr11:47290825-47290875	HRPEpiC	eye:	n/a
47	chr11:47291038-47291088	AG04449	skin:	fetal
48	chr11:47290893-47290943	BJ	skin:	n/a
49	chr11:47291501-47291551	SKMC	muscle:	n/a
50	chr11:47290882-47290932	Hepatocyte	liver:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:46867608..46869466-chr11:47290892..47293495,3	MCF-7	breast:
2	chr11:47289554..47292260-chr11:47397624..47400665,3	K562	blood:
3	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:
4	chr11:47290636..47291503-chr7:26239910..26240778,2	Hela-S3	cervix:
5	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
6	chr11:47264797..47267629-chr11:47289343..47292246,3	K562	blood:
7	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
8	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
9	chr11:47291029..47291563-chr6:3000104..3000609,2	Hela-S3	cervix:
10	chr11:47267881..47272421-chr11:47288787..47294481,12	K562	blood:
11	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
12	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
13	chr11:47195816..47200318-chr11:47289518..47292814,8	K562	blood:
14	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
15	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
16	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
17	chr11:47292359..47292934-chr16:87551044..87551823,2	Hela-S3	cervix:
18	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
19	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
20	chr1:27190750..27191665-chr11:47290111..47290665,2	Hela-S3	cervix:
21	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
22	chr1:16173725..16174683-chr11:47291183..47291944,2	Hela-S3	cervix:
23	chr11:47291432..47292021-chr8:22462067..22462755,2	HCT-116	colon:
24	chr11:47290532..47291465-chr12:46765987..46766807,2	Hela-S3	cervix:
25	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
26	chr11:47292004..47292682-chr11:47376539..47377229,2	MCF-7	breast:
27	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
28	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
29	chr11:47291353..47293892-chr11:47343454..47345274,2	K562	blood:
30	chr11:47290108..47290613-chr18:72920385..72921136,2	Hela-S3	cervix:
31	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
32	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
33	chr1:23885363..23886146-chr11:47291031..47291703,2	Hela-S3	cervix:
34	chr11:47291588..47294118-chr11:47313687..47316370,3	K562	blood:
35	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
36	chr11:47289999..47290526-chr19:48972377..48973084,2	NB4	blood:
37	chr11:47235151..47238129-chr11:47286989..47291992,5	MCF-7	breast:
38	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
39	chr11:47190024..47192945-chr11:47289457..47292109,2	MCF-7	breast:
40	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
41	chr11:47291467..47292011-chr20:43991703..43992344,2	Hela-S3	cervix:
42	chr11:47290550..47292544-chr11:47348957..47351454,2	MCF-7	breast:
43	chr11:47290799..47291583-chr8:120867901..120868534,2	Hela-S3	cervix:
44	chr11:47235395..47237642-chr11:47289103..47291887,3	K562	blood:
45	chr11:47291041..47291549-chr14:64107986..64108722,2	Hela-S3	cervix:
46	chr11:47290760..47291689-chr16:67694026..67694999,2	Hela-S3	cervix:
47	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
48	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
49	chr11:47270208..47270736-chr11:47291056..47291685,2	K562	blood:
50	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACP2-2	chr11:47292630-47292692	ENSG00000256746.1
2	lnc-ACP2-2	chr11:47292208-47292531	ENSG00000256746.1
3	lnc-ACP2-2	chr11:47292217-47292531	ENSG00000256746.1
4	lnc-ACP2-2	chr11:47292630-47292692	ENSG00000256746.1

No data

Variant related genes	Relation type
MADD	TF binding region
MADD	CpG island
ENSG00000110514	chromatin interactions
ENSG00000167632	chromatin interactions
ENSG00000134574	chromatin interactions
ENSG00000175216	chromatin interactions
ENSG00000158941	chromatin interactions
ENSG00000134571	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000179743	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000110492	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000102981	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000254806	chromatin interactions
ENSG00000165916	chromatin interactions
ENSG00000065526	chromatin interactions
ENSG00000105443	chromatin interactions
ENSG00000247675	chromatin interactions
ENSG00000268530	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000204070	chromatin interactions
ENSG00000124588	chromatin interactions
ENSG00000180011	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000136982	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000140006	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000270060	chromatin interactions
ENSG00000102977	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35932200	chr11:47290422-47290423	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
2	rs541694431	chr11:47290425-47290426	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs564655241	chr11:47290427-47290428	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs533357574	chr11:47290428-47290429	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs146385998	chr11:47290491-47290492	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs112272631	chr11:47290559-47290560	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs550238638	chr11:47290627-47290628	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs563682665	chr11:47290635-47290636	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs529360816	chr11:47290660-47290661	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs553752427	chr11:47290696-47290697	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs139520588	chr11:47290731-47290732	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs1449626	chr11:47290759-47290760	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs372868901	chr11:47290771-47290772	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs533784745	chr11:47290787-47290788	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs539045919	chr11:47290805-47290806	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs547651778	chr11:47290826-47290827	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs570704897	chr11:47290864-47290865	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs539039975	chr11:47290871-47290872	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs555691031	chr11:47290883-47290884	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs116869426	chr11:47290967-47290968	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs190689163	chr11:47290977-47290978	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs1449627	chr11:47290984-47290985	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs376462067	chr11:47291038-47291039	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
24	rs541309208	chr11:47291039-47291040	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
25	rs558417615	chr11:47291070-47291071	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs544720064	chr11:47291096-47291097	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs326215	chr11:47291100-47291101	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61896017	chr11:47291102-47291103	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs368860457	chr11:47291111-47291112	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs547913695	chr11:47291164-47291165	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs373834971	chr11:47291165-47291166	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs563645668	chr11:47291172-47291173	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs61896018	chr11:47291174-47291175	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs112378783	chr11:47291202-47291203	Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs192421403	chr11:47291205-47291206	Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
36	rs543131017	chr11:47291234-47291235	Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs559622900	chr11:47291253-47291254	Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs527480869	chr11:47291258-47291259	Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
39	rs547318304	chr11:47291308-47291309	Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
40	rs570626489	chr11:47291352-47291353	Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
41	rs533026685	chr11:47291360-47291361	Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
42	rs549677763	chr11:47291494-47291495	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
43	rs55712197	chr11:47291517-47291518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs569293060	chr11:47291532-47291533	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs535108276	chr11:47291596-47291597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs555436410	chr11:47291610-47291611	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
47	rs45489595	chr11:47291635-47291636	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs534724632	chr11:47291650-47291651	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs567720927	chr11:47291656-47291657	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
50	rs558022299	chr11:47291660-47291661	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47280200-47290600	Weak transcription	Ovary	ovary
2	chr11:47280200-47290800	Weak transcription	Aorta	Aorta
3	chr11:47281000-47290800	Weak transcription	Small Intestine	intestine
4	chr11:47288800-47290600	Enhancers	Placenta	Placenta
5	chr11:47289000-47290600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:47289000-47290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:47289200-47290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:47289400-47290600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47289400-47290600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:47289400-47290600	Genic enhancers	Liver	Liver
11	chr11:47289400-47290600	Enhancers	Pancreas	Pancrea
12	chr11:47289400-47290600	Genic enhancers	NHLF	lung
13	chr11:47289400-47290800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:47289400-47290800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:47289400-47291200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:47289600-47290600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:47289600-47290600	Enhancers	Brain Substantia Nigra	brain
18	chr11:47289600-47290600	Enhancers	Fetal Heart	heart
19	chr11:47289600-47291200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:47289800-47290600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr11:47289800-47290600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:47289800-47290600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:47289800-47290600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:47289800-47290600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:47289800-47290600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:47289800-47290600	Enhancers	Left Ventricle	heart
27	chr11:47289800-47290600	Transcr. at gene 5' and 3'	Hela-S3	cervix
28	chr11:47289800-47290800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:47289800-47290800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:47289800-47291000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:47289800-47291000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr11:47289800-47291200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:47290000-47290600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:47290000-47290600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:47290000-47290600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:47290000-47290600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:47290000-47290600	Flanking Active TSS	Fetal Brain Female	brain
38	chr11:47290000-47290600	Flanking Active TSS	Fetal Kidney	kidney
39	chr11:47290000-47290600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:47290000-47290600	Enhancers	Right Ventricle	heart
41	chr11:47290000-47290600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:47290000-47290600	Flanking Active TSS	HepG2	liver
43	chr11:47290000-47290800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:47290000-47290800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:47290000-47291000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr11:47290000-47291000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:47290000-47291000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:47290000-47291000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:47290000-47291000	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr11:47290000-47291000	Flanking Active TSS	Fetal Lung	lung

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