Variant report

Variant	esv3405747
Chromosome Location	chr11:66789601-66792149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:427)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:66791048-66791237	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr11:66789896-66790247	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr11:66789208-66789821	K562	blood:	n/a	n/a
4	CEBPB	chr11:66789860-66790451	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr11:66790117-66790330	A549	lung:	n/a	n/a
6	CHD2	chr11:66789780-66790176	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:66789580-66789730	SAEC	small airway:	n/a	n/a
8	CTCF	chr11:66789754-66789756	NHEK	skin:	n/a	n/a
9	CTCF	chr11:66789540-66789690	GM12873	blood:	n/a	n/a
10	CTCF	chr11:66790220-66790370	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:66789600-66789750	HEK293	kidney:	n/a	n/a
12	CTCF	chr11:66789620-66789770	GM06990	blood:	n/a	n/a
13	CTCF	chr11:66790220-66790370	HRE	kidney:	n/a	n/a
14	CTCF	chr11:66790200-66790350	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr11:66790260-66790410	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr11:66791220-66791370	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr11:66789620-66789770	HCM	heart:	n/a	n/a
18	CTCF	chr11:66789620-66789770	GM12866	blood:	n/a	n/a
19	CTCF	chr11:66790280-66790430	RPTEC	kidney:	n/a	n/a
20	CTCF	chr11:66790200-66790350	HRE	kidney:	n/a	n/a
21	CTCF	chr11:66791156-66791236	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:66790240-66790390	SAEC	small airway:	n/a	n/a
23	CTCF	chr11:66789600-66789750	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr11:66790220-66790370	SAEC	small airway:	n/a	n/a
25	CTCF	chr11:66790060-66790210	HAc	cerebellar:	n/a	n/a
26	CTCF	chr11:66789620-66789770	GM12874	blood:	n/a	n/a
27	CTCF	chr11:66790300-66790450	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:66789600-66789750	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr11:66789054-66789615	HCT-116	colon:	n/a	n/a
30	CTCF	chr11:66789043-66789611	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:66790240-66790390	AG09319	gingival:	n/a	n/a
32	CTCF	chr11:66788966-66789997	SK-N-SH	brain:	n/a	chr11:66789906-66789919
33	CTCF	chr11:66790220-66790370	HEK293	kidney:	n/a	n/a
34	CTCF	chr11:66789580-66789730	NB4	blood:	n/a	n/a
35	CTCF	chr11:66788947-66789713	A549	lung:	n/a	n/a
36	CTCF	chr11:66789580-66789730	GM06990	blood:	n/a	n/a
37	CTCF	chr11:66789625-66789757	GM12891	blood:	n/a	n/a
38	CTCF	chr11:66789480-66789630	HVMF	connective:	n/a	n/a
39	CTCF	chr11:66789540-66789690	NHDF-neo	bronchial:	n/a	n/a
40	E2F1	chr11:66790559-66791341	Hela-S3	cervix:	n/a	n/a
41	E2F4	chr11:66789927-66790100	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F6	chr11:66790885-66791405	A549	lung:	n/a	n/a
43	E2F6	chr11:66790946-66791483	A549	lung:	n/a	n/a
44	EBF1	chr11:66791873-66792271	GM12878	blood:	n/a	n/a
45	EBF1	chr11:66791928-66792241	GM12878	blood:	n/a	n/a
46	EBF1	chr11:66791820-66792331	GM12878	blood:	n/a	n/a
47	EGR1	chr11:66789553-66790728	MCF-7	breast:	n/a	chr11:66789803-66789816
48	EGR1	chr11:66789845-66790150	K562	blood:	n/a	n/a
49	EGR1	chr11:66789096-66790673	HCT-116	colon:	n/a	chr11:66789803-66789816
50	EGR1	chr11:66789443-66790631	HCT-116	colon:	n/a	chr11:66789803-66789816

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66791718-66791768	ovcar-3	ovarian:	n/a
2	chr11:66790615-66790665	GM06990	blood:	n/a
3	chr11:66790615-66790665	H1-hESC	embryonic stem cell:	embryo
4	chr11:66791038-66791088	HRE	kidney:	n/a
5	chr11:66791156-66791206	HRPEpiC	eye:	n/a
6	chr11:66790285-66790335	ProgFib	skin:	n/a
7	chr11:66791156-66791206	AG09319	gingival:	n/a
8	chr11:66790373-66790423	K562	blood:	n/a
9	chr11:66790373-66790423	ECC-1	luminal epithelium:	n/a
10	chr11:66791718-66791768	NHBE	bronchial:	n/a
11	chr11:66791156-66791206	HCT-116	colon:	n/a
12	chr11:66790671-66790721	MCF10A-Er-Src	breast:	n/a
13	chr11:66791038-66791088	PrEC	prostate:	n/a
14	chr11:66790615-66790665	HAEpiC	amniotic membrane:	n/a
15	chr11:66791038-66791088	K562	blood:	n/a
16	chr11:66790671-66790721	ProgFib	skin:	n/a
17	chr11:66790671-66790721	LNCaP	prostate:	n/a
18	chr11:66791156-66791206	PFSK-1	brain:	n/a
19	chr11:66791718-66791768	NHDF-neo	bronchial:	n/a
20	chr11:66791156-66791206	Hela-S3	cervix:	n/a
21	chr11:66791718-66791768	ECC-1	luminal epithelium:	n/a
22	chr11:66790373-66790423	ovcar-3	ovarian:	n/a
23	chr11:66790285-66790335	ECC-1	luminal epithelium:	n/a
24	chr11:66790615-66790665	ovcar-3	ovarian:	n/a
25	chr11:66790373-66790423	H1-hESC	embryonic stem cell:	embryo
26	chr11:66790373-66790423	LNCaP	prostate:	n/a
27	chr11:66790615-66790665	SK-N-SH_RA	brain:	n/a
28	chr11:66790671-66790721	BE2_C	brain:	n/a
29	chr11:66790671-66790721	HepG2	liver:	n/a
30	chr11:66790671-66790721	SKMC	muscle:	n/a
31	chr11:66791156-66791206	SK-N-SH_RA	brain:	n/a
32	chr11:66790373-66790423	SK-N-MC	brain:	n/a
33	chr11:66790615-66790665	A549	lung:	n/a
34	chr11:66790285-66790335	HIPEpiC	eye:	n/a
35	chr11:66791718-66791768	HEEpiC	esophagus:	n/a
36	chr11:66791156-66791206	SKMC	muscle:	n/a
37	chr11:66791718-66791768	HAEpiC	amniotic membrane:	n/a
38	chr11:66791038-66791088	MCF10A-Er-Src	breast:	n/a
39	chr11:66791038-66791088	SK-N-SH_RA	brain:	n/a
40	chr11:66790615-66790665	PANC-1	pancreas:	n/a
41	chr11:66791038-66791088	BJ	skin:	n/a
42	chr11:66790671-66790721	HCM	heart:	n/a
43	chr11:66790615-66790665	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:66791038-66791088	HRPEpiC	eye:	n/a
45	chr11:66790373-66790423	HIPEpiC	eye:	n/a
46	chr11:66790671-66790721	HRE	kidney:	n/a
47	chr11:66790373-66790423	GM12891	blood:	n/a
48	chr11:66790373-66790423	PANC-1	pancreas:	n/a
49	chr11:66790373-66790423	NT2-D1	testis:	n/a
50	chr11:66790285-66790335	HAEpiC	amniotic membrane:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66461932..66462758-chr11:66789180..66789779,2	MCF-7	breast:
2	chr11:66788543..66790931-chr11:67139607..67141552,2	MCF-7	breast:
3	chr11:66789133..66789748-chr11:66818307..66818894,2	MCF-7	breast:
4	chr11:66650405..66651268-chr11:66788800..66789658,2	MCF-7	breast:
5	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
6	chr11:66789062..66792605-chr11:66793092..66798254,6	K562	blood:
7	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
8	chr11:66622967..66625397-chr11:66790084..66792768,5	MCF-7	breast:
9	chr11:66762967..66768319-chr11:66788576..66792799,9	MCF-7	breast:
10	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
11	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:
12	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
13	chr11:66510482..66513147-chr11:66790966..66792774,2	MCF-7	breast:
14	chr11:66762811..66772502-chr11:66787021..66797000,34	MCF-7	breast:
15	chr11:66790383..66792489-chr11:67119405..67122102,2	MCF-7	breast:
16	chr11:66790564..66792990-chr17:56707751..56709327,2	MCF-7	breast:
17	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
18	chr11:66628190..66631041-chr11:66791870..66794073,2	MCF-7	breast:
19	chr11:66622645..66625708-chr11:66789822..66792440,5	MCF-7	breast:

No data

Variant related genes	Relation type
SYT12	TF binding region
SYT12	CpG island
ENSG00000173156	chromatin interactions
ENSG00000173227	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000173653	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000173715	chromatin interactions
ENSG00000173621	chromatin interactions
ENSG00000252709	chromatin interactions
ENSG00000175482	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80226905	chr11:66789700-66789701	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs541652528	chr11:66789730-66789731	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs558883383	chr11:66789759-66789760	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs561322334	chr11:66789767-66789768	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs372934428	chr11:66789791-66789792	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs7930695	chr11:66789861-66789862	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374651839	chr11:66789863-66789864	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs185093470	chr11:66789865-66789866	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs146246495	chr11:66789944-66789945	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs187259250	chr11:66789970-66789971	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs11227651	chr11:66789973-66789974	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371527183	chr11:66789987-66789988	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs541451580	chr11:66790031-66790032	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs543029926	chr11:66790035-66790036	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs561429176	chr11:66790079-66790080	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs528982008	chr11:66790131-66790132	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs374997798	chr11:66790132-66790133	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs550717426	chr11:66790192-66790193	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs36122414	chr11:66790193-66790194	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs370969551	chr11:66790199-66790200	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs139362269	chr11:66790242-66790243	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs191672768	chr11:66790275-66790276	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs552997404	chr11:66790366-66790367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs572825677	chr11:66790374-66790375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs7108767	chr11:66790421-66790422	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369543393	chr11:66790449-66790450	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs7108884	chr11:66790467-66790468	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149258905	chr11:66790476-66790477	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs373100555	chr11:66790540-66790541	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs543971566	chr11:66790598-66790599	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs563475094	chr11:66790666-66790667	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs576917260	chr11:66790725-66790726	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs188457449	chr11:66790888-66790889	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs180818108	chr11:66790904-66790905	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs547183993	chr11:66790954-66790955	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs552054914	chr11:66791016-66791017	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs548204013	chr11:66791033-66791034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs561989173	chr11:66791059-66791060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs530645981	chr11:66791066-66791067	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs550782795	chr11:66791090-66791091	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs570603666	chr11:66791181-66791182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs373633410	chr11:66791215-66791216	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs185817574	chr11:66791232-66791233	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs570626499	chr11:66791275-66791276	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs566358227	chr11:66791278-66791279	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs377412800	chr11:66791293-66791294	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs535399720	chr11:66791322-66791323	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs554989777	chr11:66791340-66791341	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs575058128	chr11:66791361-66791362	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs190293528	chr11:66791364-66791365	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	9 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
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
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
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66778200-66789800	Weak transcription	Right Atrium	heart
2	chr11:66788600-66789800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:66788600-66790000	Enhancers	GM12878-XiMat	blood
4	chr11:66789200-66790000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:66789200-66791200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr11:66789400-66789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:66789400-66789800	Enhancers	Placenta	Placenta
8	chr11:66789400-66790000	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:66789600-66789800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:66789600-66789800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:66789600-66789800	Bivalent Enhancer	Brain Hippocampus Middle	brain
12	chr11:66789600-66789800	Bivalent Enhancer	Spleen	Spleen
13	chr11:66789600-66789800	Enhancers	A549	lung
14	chr11:66789600-66789800	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr11:66789600-66789800	Enhancers	NH-A	brain
16	chr11:66789600-66790000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:66789600-66790000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:66789600-66790000	Enhancers	Brain Angular Gyrus	brain
19	chr11:66789600-66790000	Enhancers	Brain Anterior Caudate	brain
20	chr11:66789600-66790000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:66789600-66790000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
22	chr11:66789600-66790000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr11:66789600-66790000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:66789600-66790000	Enhancers	Right Ventricle	heart
25	chr11:66789600-66790000	Enhancers	Osteobl	bone
26	chr11:66789600-66790200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:66789600-66790200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:66789600-66790200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:66789600-66790200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:66789600-66790200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66789600-66790200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:66789600-66790200	Enhancers	Liver	Liver
33	chr11:66789600-66790200	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr11:66789600-66790200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr11:66789600-66790200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr11:66789600-66790200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr11:66789600-66790200	Enhancers	HMEC	breast
38	chr11:66789600-66790200	Enhancers	HSMM	muscle
39	chr11:66789600-66790200	Enhancers	HSMMtube	muscle
40	chr11:66789600-66790200	Bivalent Enhancer	NHDF-Ad	bronchial
41	chr11:66789600-66790200	Flanking Active TSS	NHEK	skin
42	chr11:66789600-66790400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:66789600-66790400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:66789600-66790400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr11:66789600-66790400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr11:66789600-66790400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:66789600-66790400	Enhancers	Esophagus	oesophagus
48	chr11:66789600-66790400	Bivalent Enhancer	Fetal Stomach	stomach
49	chr11:66789600-66790400	Bivalent Enhancer	Fetal Thymus	thymus
50	chr11:66789600-66790400	Enhancers	Left Ventricle	heart

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