Variant report

Variant	nsv555189
Chromosome Location	chr11:63999581-64004793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:356)
CpG islands
(count:489)
Chromatin interactive
region (count:22)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:63999714-63999929	K562	blood:	n/a	n/a
2	BCL3	chr11:64001575-64001910	A549	lung:	n/a	chr11:64001891-64001904 chr11:64001884-64001897 chr11:64001889-64001898
3	BHLHE40	chr11:64001843-64002037	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:64002338-64002552	HepG2	liver:	n/a	n/a
5	BHLHE40	chr11:64002339-64002547	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:64002377-64002511	K562	blood:	n/a	n/a
7	CBX3	chr11:64002916-64003287	K562	blood:	n/a	n/a
8	CBX3	chr11:64002990-64003263	K562	blood:	n/a	n/a
9	CCNT2	chr11:64002284-64002654	K562	blood:	n/a	chr11:64002598-64002607
10	CCNT2	chr11:64001644-64001953	K562	blood:	n/a	chr11:64001788-64001797
11	CCNT2	chr11:63999885-64000085	K562	blood:	n/a	chr11:63999891-63999900
12	CEBPB	chr11:63999792-63999846	K562	blood:	n/a	n/a
13	CEBPB	chr11:64000677-64000846	K562	blood:	n/a	n/a
14	CEBPD	chr11:64002472-64002793	HepG2	liver:	n/a	n/a
15	CHD2	chr11:64001736-64001910	GM12878	blood:	n/a	chr11:64001894-64001904
16	CHD2	chr11:64002374-64002624	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr11:64001702-64001939	Hela-S3	cervix:	n/a	chr11:64001894-64001904
18	CHD2	chr11:64002527-64002571	GM12878	blood:	n/a	n/a
19	CREB1	chr11:64001604-64002013	A549	lung:	n/a	n/a
20	CREB1	chr11:64002264-64002615	A549	lung:	n/a	n/a
21	CTCF	chr11:64002279-64002370	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:64002200-64002350	SAEC	small airway:	n/a	n/a
23	CTCF	chr11:64002220-64002370	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr11:64002200-64002350	GM12867	blood:	n/a	n/a
25	CTCF	chr11:64002240-64002390	GM12871	blood:	n/a	n/a
26	CTCF	chr11:64002300-64002450	GM12878	blood:	n/a	n/a
27	CTCF	chr11:64002233-64002371	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:64001822-64001846	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr11:64001485-64001919	H1-hESC	embryonic stem cell:	n/a	chr11:64001892-64001905
30	CTCF	chr11:64002200-64002350	GM12875	blood:	n/a	n/a
31	CTCF	chr11:64001800-64001807	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr11:64002220-64002370	GM12873	blood:	n/a	n/a
33	CTCF	chr11:64002240-64002390	GM12865	blood:	n/a	n/a
34	CTCF	chr11:64002260-64002410	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr11:64000520-64000614	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr11:64002267-64002377	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:64002220-64002370	HCM	heart:	n/a	n/a
38	CTCF	chr11:64002310-64002345	NHEK	skin:	n/a	n/a
39	CTCF	chr11:64002220-64002370	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr11:64002278-64002363	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr11:64002050-64002571	K562	blood:	n/a	chr11:64002513-64002526
42	CTCF	chr11:64002280-64002430	HEK293	kidney:	n/a	n/a
43	CTCF	chr11:64002337-64002348	GM12878	blood:	n/a	n/a
44	CTCF	chr11:64002220-64002370	GM12866	blood:	n/a	n/a
45	CTCF	chr11:64002400-64002550	GM12866	blood:	n/a	chr11:64002513-64002526
46	CTCF	chr11:64002311-64002320	GM12892	blood:	n/a	n/a
47	CTCF	chr11:64002271-64002326	GM19240	blood:	n/a	n/a
48	CTCF	chr11:64002241-64002407	GM19238	blood:	n/a	n/a
49	CTCF	chr11:64002220-64002370	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr11:64002500-64002650	AG04449	skin:	n/a	chr11:64002513-64002526

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64001094-64001144	ECC-1	luminal epithelium:	n/a
2	chr11:64001094-64001144	ECC-1	luminal epithelium:	n/a
3	chr11:64002754-64002804	HEK293	kidney:	embryo
4	chr11:64001712-64001762	SKMC	muscle:	n/a
5	chr11:64002635-64002685	K562	blood:	n/a
6	chr11:64002298-64002348	PANC-1	pancreas:	n/a
7	chr11:64002295-64002345	HepG2	liver:	n/a
8	chr11:64001994-64002044	IMR90	lung:	fetal
9	chr11:64002295-64002345	AG09319	gingival:	n/a
10	chr11:64002298-64002348	NT2-D1	testis:	n/a
11	chr11:64002635-64002685	PANC-1	pancreas:	n/a
12	chr11:64002754-64002804	HUVEC	blood vessel:	n/a
13	chr11:64001094-64001144	A549	lung:	n/a
14	chr11:64002635-64002685	AG04449	skin:	fetal
15	chr11:64002635-64002685	SK-N-MC	brain:	n/a
16	chr11:64002754-64002804	GM12878	blood:	n/a
17	chr11:64001712-64001762	SK-N-SH	brain:	n/a
18	chr11:64001712-64001762	CMK	blood:	n/a
19	chr11:64001994-64002044	ECC-1	luminal epithelium:	n/a
20	chr11:64001094-64001144	GM12891	blood:	n/a
21	chr11:64001996-64002046	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:64001994-64002044	HL-60	blood:	n/a
23	chr11:64002295-64002345	HRE	kidney:	n/a
24	chr11:64001996-64002046	SK-N-SH_RA	brain:	n/a
25	chr11:64002298-64002348	ovcar-3	ovarian:	n/a
26	chr11:64002298-64002348	HEK293	kidney:	embryo
27	chr11:64001094-64001144	HIPEpiC	eye:	n/a
28	chr11:64002754-64002804	NH-A	brain:	n/a
29	chr11:64002635-64002685	RPTEC	kidney:	n/a
30	chr11:64001094-64001144	GM12878	blood:	n/a
31	chr11:64002298-64002348	HCT-116	colon:	n/a
32	chr11:64001994-64002044	HRCEpiC	kidney:	n/a
33	chr11:64001996-64002046	NB4	blood:	n/a
34	chr11:64001094-64001144	MCF10A-Er-Src	breast:	n/a
35	chr11:64002635-64002685	NT2-D1	testis:	n/a
36	chr11:64001994-64002044	SAEC	small airway:	n/a
37	chr11:64002298-64002348	GM12891	blood:	n/a
38	chr11:64002635-64002685	BJ	skin:	n/a
39	chr11:64001094-64001144	GM06990	blood:	n/a
40	chr11:64001996-64002046	Hepatocyte	liver:	n/a
41	chr11:64002298-64002348	NHDF-neo	bronchial:	n/a
42	chr11:64002754-64002804	AoSMC	blood vessel:	n/a
43	chr11:64002754-64002804	HAEpiC	amniotic membrane:	n/a
44	chr11:64001094-64001144	HepG2	liver:	n/a
45	chr11:64002754-64002804	T-47D	breast:	n/a
46	chr11:64001712-64001762	HEK293	kidney:	embryo
47	chr11:64002298-64002348	HCPEpiC	choroid plexus:	n/a
48	chr11:64001094-64001144	PANC-1	pancreas:	n/a
49	chr11:64001996-64002046	HCPEpiC	choroid plexus:	n/a
50	chr11:64001996-64002046	GM12878	blood:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64000315..64002426-chr11:64053899..64055582,2	MCF-7	breast:
2	chr11:64000008..64002901-chr11:64125113..64127418,2	MCF-7	breast:
3	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
4	chr11:63933271..63935059-chr11:64002653..64006652,3	MCF-7	breast:
5	chr11:64001331..64003379-chr11:64062439..64064683,2	MCF-7	breast:
6	chr11:63997112..63999658-chr11:64063804..64066136,2	MCF-7	breast:
7	chr11:64001901..64002697-chr15:65596667..65597412,2	HCT-116	colon:
8	chr11:63950870..63952881-chr11:64001401..64003560,2	MCF-7	breast:
9	chr11:63997990..64000103-chr11:64070945..64073334,3	MCF-7	breast:
10	chr11:63997014..63999742-chr11:64070693..64073511,5	MCF-7	breast:
11	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
12	chr11:63932405..63934131-chr11:64004230..64006451,2	MCF-7	breast:
13	chr11:64001731..64003390-chr11:64072435..64074262,2	MCF-7	breast:
14	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
15	chr11:64004012..64005762-chr11:64124323..64126720,2	MCF-7	breast:
16	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
17	chr11:63952913..63955052-chr11:64000550..64003768,4	MCF-7	breast:
18	chr11:64001124..64003237-chr5:180669340..180672210,2	MCF-7	breast:
19	chr11:64001215..64003769-chr11:64062719..64064324,2	MCF-7	breast:
20	chr11:64001770..64003427-chr11:64071826..64073538,2	MCF-7	breast:
21	chr11:63994757..64000133-chr11:64050787..64054663,5	MCF-7	breast:
22	chr11:63998837..64000808-chr11:64079142..64081596,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJC4-1	chr11:64001545-64001758	NONHSAT021966
2	lnc-DNAJC4-1	chr11:64000964-64001452	NONHSAT021966
3	lnc-DNAJC4-3	chr11:64004599-64004694	NONHSAT021969
4	lnc-TRPT1-1	chr11:64001666-64001824	ENSG00000256116.1

No data

Variant related genes	Relation type
FKBP2	TF binding region
DNAJC4	TF binding region
ENSG00000256116	TF binding region
VEGFB	TF binding region
FKBP2	CpG island
DNAJC4	CpG island
ENSG00000256116	CpG island
VEGFB	CpG island
ENSG00000168439	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000182450	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000207024	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000257069	chromatin interactions

Extended variants
information (count: 353 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34630188	chr11:63999581-63999582	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs531806372	chr11:63999597-63999598	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs577922908	chr11:63999619-63999620	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs571826604	chr11:63999628-63999629	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs528037876	chr11:63999650-63999651	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs190438743	chr11:63999674-63999675	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs377547876	chr11:63999710-63999711	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs567290613	chr11:63999715-63999716	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs535889665	chr11:63999804-63999805	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs140273970	chr11:63999828-63999829	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs569419878	chr11:63999829-63999830	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs377031581	chr11:63999851-63999852	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs369570434	chr11:63999862-63999863	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs369456737	chr11:63999920-63999921	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs199745306	chr11:63999929-63999930	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs571900284	chr11:63999930-63999931	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs143213764	chr11:63999933-63999934	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs541349768	chr11:63999951-63999952	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs201258154	chr11:63999961-63999962	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs528878768	chr11:63999962-63999963	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs193059245	chr11:63999971-63999972	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs200699204	chr11:63999982-63999983	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs562381353	chr11:63999984-63999985	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs375824405	chr11:63999985-63999986	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs370434882	chr11:63999987-63999988	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs374099725	chr11:63999995-63999996	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs200183856	chr11:63999998-63999999	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs201697121	chr11:63999999-64000000	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs201362496	chr11:64000001-64000002	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs370287965	chr11:64000002-64000003	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs117464526	chr11:64000019-64000020	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs529657121	chr11:64000078-64000079	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs113915915	chr11:64000087-64000088	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs150439143	chr11:64000114-64000115	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs372252507	chr11:64000194-64000195	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs375673802	chr11:64000203-64000204	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs200012234	chr11:64000210-64000211	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs372029552	chr11:64000221-64000222	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs375366918	chr11:64000232-64000233	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs569307400	chr11:64000245-64000246	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs528015044	chr11:64000278-64000279	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs369087127	chr11:64000299-64000300	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs373704240	chr11:64000307-64000308	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs376654464	chr11:64000308-64000309	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs369841577	chr11:64000325-64000326	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs373570962	chr11:64000347-64000348	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs199630430	chr11:64000352-64000353	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs185194474	chr11:64000356-64000357	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs61760059	chr11:64000368-64000369	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537305641	chr11:64000371-64000372	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21785460	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

Chromatin state (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63994600-64001200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63998200-64001000	Enhancers	Fetal Brain Male	brain
3	chr11:63998600-63999800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:63998600-63999800	Enhancers	Spleen	Spleen
5	chr11:63998600-64000000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:63998600-64000200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:63998600-64000400	Enhancers	Gastric	stomach
8	chr11:63998600-64001000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:63998600-64001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:63998600-64001200	Weak transcription	Aorta	Aorta
11	chr11:63998600-64001200	Weak transcription	Small Intestine	intestine
12	chr11:63998600-64001400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:63998600-64001400	Enhancers	Lung	lung
14	chr11:63998800-63999600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:63998800-63999600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:63998800-63999600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:63998800-63999600	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:63998800-63999600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:63998800-63999600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr11:63998800-63999600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:63998800-63999800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:63998800-63999800	Enhancers	Primary B cells from cord blood	blood
23	chr11:63998800-63999800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:63998800-63999800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:63998800-63999800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:63998800-63999800	Enhancers	Hela-S3	cervix
27	chr11:63998800-64000000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:63998800-64000000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr11:63998800-64000000	Enhancers	Liver	Liver
30	chr11:63998800-64000000	Enhancers	Fetal Brain Female	brain
31	chr11:63998800-64000200	Enhancers	Primary T cells from cord blood	blood
32	chr11:63998800-64000200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:63998800-64000400	Enhancers	Stomach Mucosa	stomach
34	chr11:63998800-64000600	Enhancers	Right Ventricle	heart
35	chr11:63998800-64000600	Enhancers	A549	lung
36	chr11:63998800-64000800	Weak transcription	NHLF	lung
37	chr11:63998800-64001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:63998800-64001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:63998800-64001000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:63998800-64001000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:63998800-64001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:63998800-64001000	Weak transcription	Adipose Nuclei	Adipose
43	chr11:63998800-64001000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:63998800-64001000	Weak transcription	Brain Substantia Nigra	brain
45	chr11:63998800-64001000	Enhancers	Colon Smooth Muscle	Colon
46	chr11:63998800-64001000	Enhancers	Esophagus	oesophagus
47	chr11:63998800-64001000	Weak transcription	Fetal Kidney	kidney
48	chr11:63998800-64001000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:63998800-64001000	Enhancers	Placenta	Placenta
50	chr11:63998800-64001000	Weak transcription	Rectal Smooth Muscle	rectum

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