Variant report

Variant	nsv1054122
Chromosome Location	chr11:74872792-74895241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74879525-74880077	HepG2	liver:	n/a	n/a
2	ATF3	chr11:74885814-74885996	K562	blood:	n/a	n/a
3	ATF3	chr11:74885791-74886018	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr11:74892742-74893027	GM12878	blood:	n/a	n/a
5	BATF	chr11:74892790-74892981	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:74885724-74886115	K562	blood:	n/a	n/a
7	BHLHE40	chr11:74892869-74893035	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:74885914-74885986	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:74879686-74879999	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:74892201-74892459	K562	blood:	n/a	n/a
11	CEBPD	chr11:74879526-74880108	HepG2	liver:	n/a	chr11:74879567-74879578
12	CHD2	chr11:74873202-74873399	HepG2	liver:	n/a	n/a
13	CHD2	chr11:74882058-74882104	K562	blood:	n/a	n/a
14	CHD2	chr11:74879637-74880028	HepG2	liver:	n/a	chr11:74879894-74879904
15	CHD2	chr11:74875267-74876070	HepG2	liver:	n/a	n/a
16	CHD2	chr11:74880306-74880648	HepG2	liver:	n/a	n/a
17	CREB1	chr11:74879588-74879833	A549	lung:	n/a	n/a
18	CTCF	chr11:74879780-74879930	Caco-2	colon:	n/a	n/a
19	CTCF	chr11:74881720-74881870	BE2_C	brain:	n/a	n/a
20	CTCF	chr11:74878740-74878890	Caco-2	colon:	n/a	n/a
21	CTCF	chr11:74879820-74879970	Caco-2	colon:	n/a	n/a
22	CTCF	chr11:74894980-74895130	GM12866	blood:	n/a	n/a
23	ELF1	chr11:74874384-74874711	GM12878	blood:	n/a	n/a
24	EP300	chr11:74879497-74880053	HepG2	liver:	n/a	n/a
25	EP300	chr11:74879227-74880146	HepG2	liver:	n/a	n/a
26	EP300	chr11:74875353-74876317	HepG2	liver:	n/a	chr11:74875789-74875796 chr11:74876028-74876041
27	EP300	chr11:74875795-74876252	HepG2	liver:	n/a	chr11:74876028-74876041
28	EP300	chr11:74892913-74893004	GM12878	blood:	n/a	n/a
29	EP300	chr11:74875662-74876128	HepG2	liver:	n/a	chr11:74875789-74875796 chr11:74876028-74876041
30	EP300	chr11:74879418-74880036	HepG2	liver:	n/a	n/a
31	FOSL2	chr11:74879552-74880065	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:74895138-74895582	HepG2	liver:	n/a	n/a
33	FOXA1	chr11:74879555-74880183	HepG2	liver:	n/a	n/a
34	FOXA1	chr11:74879544-74880118	HepG2	liver:	n/a	n/a
35	FOXA1	chr11:74879481-74880126	HepG2	liver:	n/a	n/a
36	FOXA1	chr11:74879488-74880180	HepG2	liver:	n/a	n/a
37	FOXA2	chr11:74879293-74880050	HepG2	liver:	n/a	n/a
38	FOXA2	chr11:74895200-74895403	HepG2	liver:	n/a	n/a
39	FOXA2	chr11:74875878-74876239	HepG2	liver:	n/a	n/a
40	GATA2	chr11:74880836-74881179	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr11:74880846-74881182	SH-SY5Y	brain:	n/a	n/a
42	HDAC2	chr11:74879419-74880048	HepG2	liver:	n/a	n/a
43	HDAC2	chr11:74875576-74876292	HepG2	liver:	n/a	chr11:74876181-74876189
44	HDAC2	chr11:74875413-74876261	HepG2	liver:	n/a	chr11:74876181-74876189
45	HDAC2	chr11:74879191-74880098	HepG2	liver:	n/a	chr11:74879358-74879366
46	HEY1	chr11:74879524-74879816	HepG2	liver:	n/a	n/a
47	HEY1	chr11:74875795-74876152	HepG2	liver:	n/a	chr11:74876131-74876140
48	HEY1	chr11:74875450-74875701	HepG2	liver:	n/a	n/a
49	HMGN3	chr11:74875197-74875198	K562	blood:	n/a	n/a
50	HNF4A	chr11:74875449-74876230	HepG2	liver:	n/a	chr11:74875663-74875675 chr11:74875662-74875677 chr11:74876173-74876188 chr11:74875662-74875677 chr11:74875663-74875676 chr11:74875662-74875677

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74875013-74875063	HRE	kidney:	n/a
2	chr11:74875013-74875063	ProgFib	skin:	n/a
3	chr11:74875013-74875063	HepG2	liver:	n/a
4	chr11:74875013-74875063	HL-60	blood:	n/a
5	chr11:74875013-74875063	GM12878	blood:	n/a
6	chr11:74875013-74875063	Caco-2	colon:	n/a
7	chr11:74875013-74875063	HCF	heart:	n/a
8	chr11:74875013-74875063	U87	brain:	n/a
9	chr11:74875013-74875063	HRCEpiC	kidney:	n/a
10	chr11:74875013-74875063	K562	blood:	n/a
11	chr11:74875013-74875063	HRPEpiC	eye:	n/a
12	chr11:74875013-74875063	NB4	blood:	n/a
13	chr11:74875013-74875063	HEEpiC	esophagus:	n/a
14	chr11:74875013-74875063	HNPCEpiC	eye:	n/a
15	chr11:74875013-74875063	BE2_C	brain:	n/a
16	chr11:74875013-74875063	MCF10A-Er-Src	breast:	n/a
17	chr11:74875013-74875063	NH-A	brain:	n/a
18	chr11:74875013-74875063	NHBE	bronchial:	n/a
19	chr11:74875013-74875063	HCPEpiC	choroid plexus:	n/a
20	chr11:74875013-74875063	MCF-7	breast:	n/a
21	chr11:74875013-74875063	AG09319	gingival:	n/a
22	chr11:74875013-74875063	PrEC	prostate:	n/a
23	chr11:74875013-74875063	HAEpiC	amniotic membrane:	n/a
24	chr11:74875013-74875063	AG04449	skin:	fetal
25	chr11:74875013-74875063	BJ	skin:	n/a
26	chr11:74875013-74875063	NHDF-neo	bronchial:	n/a
27	chr11:74875013-74875063	A549	lung:	n/a
28	chr11:74875013-74875063	SKMC	muscle:	n/a
29	chr11:74875013-74875063	SAEC	small airway:	n/a
30	chr11:74875013-74875063	HCT-116	colon:	n/a
31	chr11:74875013-74875063	H1-hESC	embryonic stem cell:	embryo
32	chr11:74875013-74875063	HEK293	kidney:	embryo
33	chr11:74875013-74875063	Hepatocyte	liver:	n/a
34	chr11:74875013-74875063	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:74875013-74875063	ovcar-3	ovarian:	n/a
36	chr11:74875013-74875063	CMK	blood:	n/a
37	chr11:74875013-74875063	PANC-1	pancreas:	n/a
38	chr11:74875013-74875063	AG04450	lung:	fetal
39	chr11:74875013-74875063	SK-N-SH	brain:	n/a
40	chr11:74875013-74875063	GM19239	blood:	n/a
41	chr11:74875013-74875063	Hela-S3	cervix:	n/a
42	chr11:74875013-74875063	HCM	heart:	n/a
43	chr11:74875013-74875063	AG10803	skin:	n/a
44	chr11:74875013-74875063	NT2-D1	testis:	n/a
45	chr11:74875013-74875063	HIPEpiC	eye:	n/a
46	chr11:74875013-74875063	AoSMC	blood vessel:	n/a
47	chr11:74875013-74875063	GM06990	blood:	n/a
48	chr11:74875013-74875063	HUVEC	blood vessel:	n/a
49	chr11:74875013-74875063	GM12892	blood:	n/a
50	chr11:74875013-74875063	GM12891	blood:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74867339..74870278-chr11:74875624..74878251,3	K562	blood:
2	chr11:74875175..74876729-chr11:74880662..74883580,2	MCF-7	breast:
3	chr11:74878507..74880401-chr11:74880638..74883167,2	K562	blood:
4	chr11:74866771..74870278-chr11:74874697..74878251,4	K562	blood:
5	chr11:74878507..74880401-chr11:74880638..74883167,2	K562	blood:
6	chr11:74854253..74855928-chr11:74871794..74874336,2	MCF-7	breast:
7	chr11:74884999..74887214-chr11:74893801..74896060,2	MCF-7	breast:
8	chr11:74883211..74885024-chr11:74885552..74887850,2	MCF-7	breast:
9	chr11:74885299..74886979-chr11:74899897..74901774,2	K562	blood:
10	chr11:74884999..74887214-chr11:74893801..74896060,2	MCF-7	breast:
11	chr11:74880288..74883230-chr11:74887278..74889669,2	K562	blood:
12	chr11:74875532..74878291-chr11:74886625..74888300,2	K562	blood:
13	chr11:74868174..74871042-chr11:74871954..74874502,2	K562	blood:
14	chr11:74883211..74885024-chr11:74885552..74887850,2	MCF-7	breast:
15	chr11:74892413..74894687-chr11:74914535..74916760,2	K562	blood:
16	chr11:74870955..74873792-chr11:74881314..74883069,2	K562	blood:
17	chr11:74856790..74858510-chr11:74872953..74874736,2	K562	blood:
18	chr11:74868174..74870399-chr11:74871954..74873534,2	K562	blood:
19	chr11:74875175..74876729-chr11:74880662..74883580,2	MCF-7	breast:
20	chr11:74880288..74883230-chr11:74887278..74889669,2	K562	blood:
21	chr11:74870955..74873792-chr11:74881314..74883069,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEU3-2	chr11:74873700-74873968	NONHSAT023078

No data

Variant related genes	Relation type
SLCO2B1	TF binding region
SLCO2B1	CpG island
ENSG00000137491	chromatin interactions

Extended variants
information (count: 959 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79051775	chr11:74872793-74872794	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2465290	chr11:74872821-74872822	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs532824481	chr11:74872849-74872850	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543119772	chr11:74872873-74872874	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11236361	chr11:74872884-74872885	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs189492716	chr11:74872964-74872965	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550524799	chr11:74873060-74873061	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370207584	chr11:74873087-74873088	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35156799	chr11:74873114-74873115	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565560154	chr11:74873117-74873118	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551445538	chr11:74873145-74873146	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs57073688	chr11:74873179-74873180	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555164674	chr11:74873190-74873191	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115202908	chr11:74873202-74873203	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557530782	chr11:74873242-74873243	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539241381	chr11:74873265-74873266	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535319907	chr11:74873282-74873283	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369544626	chr11:74873347-74873348	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs118174580	chr11:74873374-74873375	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541330646	chr11:74873377-74873378	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557287258	chr11:74873497-74873498	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74744329	chr11:74873539-74873540	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149265459	chr11:74873576-74873577	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371833972	chr11:74873657-74873658	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12287059	chr11:74873659-74873660	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369708636	chr11:74873668-74873669	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs151095859	chr11:74873700-74873701	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs181644851	chr11:74873706-74873707	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs373852428	chr11:74873707-74873708	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs201671639	chr11:74873713-74873714	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs56837383	chr11:74873726-74873727	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs72408262	chr11:74873755-74873756	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs528731324	chr11:74873756-74873757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs60113013	chr11:74873759-74873760	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs150221994	chr11:74873768-74873769	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs533776004	chr11:74873825-74873826	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs369129084	chr11:74873835-74873836	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs148446585	chr11:74873853-74873854	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs12274382	chr11:74873858-74873859	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144102219	chr11:74873859-74873860	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs111343445	chr11:74873869-74873870	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs377301802	chr11:74873879-74873880	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs567736095	chr11:74873888-74873889	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs75284245	chr11:74873927-74873928	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs77143149	chr11:74873947-74873948	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs548865681	chr11:74873951-74873952	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs374015476	chr11:74873961-74873962	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs565871895	chr11:74873962-74873963	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs534611952	chr11:74873980-74873981	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs77757542	chr11:74874030-74874031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:74864200-74898400	Weak transcription	Esophagus	oesophagus
3	chr11:74866200-74873000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:74866400-74873000	Weak transcription	Fetal Thymus	thymus
5	chr11:74867400-74873200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:74867600-74875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:74868600-74875200	Weak transcription	Ovary	ovary
8	chr11:74870000-74872800	Flanking Active TSS	Liver	Liver
9	chr11:74870000-74881000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:74870200-74873400	Enhancers	Adipose Nuclei	Adipose
11	chr11:74870400-74875000	Weak transcription	Small Intestine	intestine
12	chr11:74870800-74901600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:74871200-74872800	Weak transcription	Left Ventricle	heart
14	chr11:74871200-74873000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:74871200-74873400	Enhancers	HUVEC	blood vessel
16	chr11:74871400-74872800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:74871400-74875200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:74871400-74886800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:74871600-74872800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:74871600-74872800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:74871600-74872800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:74871600-74875000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:74871600-74875600	Enhancers	HepG2	liver
24	chr11:74871800-74872800	Weak transcription	Gastric	stomach
25	chr11:74871800-74872800	Weak transcription	Lung	lung
26	chr11:74871800-74872800	Weak transcription	Pancreas	Pancrea
27	chr11:74871800-74873000	Weak transcription	Spleen	Spleen
28	chr11:74872200-74873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:74872200-74873200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:74872200-74873400	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:74872200-74885400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:74872400-74873400	Enhancers	Right Atrium	heart
33	chr11:74872400-74875400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:74872400-74876400	Enhancers	Placenta	Placenta
35	chr11:74872400-74883600	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:74872600-74872800	Enhancers	Fetal Intestine Large	intestine
37	chr11:74872600-74873200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:74872600-74873400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:74872600-74873400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:74872600-74873800	Enhancers	Colonic Mucosa	Colon
41	chr11:74872600-74874800	Enhancers	Stomach Mucosa	stomach
42	chr11:74872600-74877200	Enhancers	Fetal Muscle Leg	muscle
43	chr11:74872800-74873000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:74872800-74873200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:74872800-74873200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:74872800-74873400	Enhancers	Left Ventricle	heart
47	chr11:74872800-74873800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:74872800-74874000	Transcr. at gene 5' and 3'	Liver	Liver
49	chr11:74872800-74874000	Enhancers	Gastric	stomach
50	chr11:74872800-74874000	Enhancers	Lung	lung

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