Variant report

Variant	esv3415782
Chromosome Location	chr11:86510654-86512652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:297)
CpG islands
(count:488)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:86511398-86511643	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr11:86512167-86513179	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:86511208-86511555	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:86512530-86512891	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr11:86510939-86511340	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr11:86510667-86512726	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr11:86511323-86511755	A549	lung:	n/a	n/a
8	CTBP2	chr11:86510864-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr11:86510744-86510911	Hela-S3	cervix:	n/a	chr11:86510819-86510832
10	CTCF	chr11:86510760-86510910	AG09319	gingival:	n/a	chr11:86510819-86510832
11	CTCF	chr11:86510820-86510970	HRE	kidney:	n/a	n/a
12	CTCF	chr11:86510679-86510965	IMR90	lung:	n/a	chr11:86510819-86510832
13	CTCF	chr11:86511587-86511589	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:86511820-86511970	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr11:86510684-86510909	A549	lung:	n/a	chr11:86510819-86510832
16	CTCF	chr11:86510600-86510750	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:86510720-86510870	WERI-Rb-1	eye:	n/a	chr11:86510819-86510832
18	CTCF	chr11:86510780-86510930	NHEK	skin:	n/a	chr11:86510819-86510832
19	CTCF	chr11:86510761-86510905	MCF-7	breast:	n/a	chr11:86510819-86510832
20	CTCF	chr11:86510790-86510885	Kidney_OC	kidney:	n/a	chr11:86510819-86510832
21	CTCF	chr11:86510766-86510881	NHEK	skin:	n/a	chr11:86510819-86510832
22	CTCF	chr11:86510670-86511047	MCF-7	breast:	n/a	chr11:86510819-86510832
23	CTCF	chr11:86510760-86510910	HBMEC	blood vessel:	n/a	chr11:86510819-86510832
24	CTCF	chr11:86510761-86510891	ProgFib	skin:	n/a	chr11:86510819-86510832
25	CTCF	chr11:86510760-86510910	RPTEC	kidney:	n/a	chr11:86510819-86510832
26	CTCF	chr11:86510780-86510930	AG09319	gingival:	n/a	chr11:86510819-86510832
27	CTCF	chr11:86510680-86510830	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr11:86510780-86510930	HepG2	liver:	n/a	chr11:86510819-86510832
29	CTCF	chr11:86510720-86510870	HA-sp	spinal cord:	n/a	chr11:86510819-86510832
30	CTCF	chr11:86510749-86510933	MCF-7	breast:	n/a	chr11:86510819-86510832
31	CTCF	chr11:86511500-86511650	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr11:86510800-86510950	AG04449	skin:	n/a	chr11:86510819-86510832
33	CTCF	chr11:86512460-86512610	HPAF	blood vessel:	n/a	chr11:86512489-86512507
34	CTCF	chr11:86510780-86510930	HPF	lung:	n/a	chr11:86510819-86510832
35	CTCF	chr11:86510515-86511157	HCT-116	colon:	n/a	chr11:86510819-86510832
36	CTCF	chr11:86510780-86510930	HMF	breast:	n/a	chr11:86510819-86510832
37	CTCF	chr11:86510795-86510871	Pancreas_OC	pancreas:	n/a	chr11:86510819-86510832
38	CTCF	chr11:86511336-86511425	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:86511571-86511633	NHEK	skin:	n/a	n/a
40	CTCF	chr11:86510732-86510887	HepG2	liver:	n/a	chr11:86510819-86510832
41	CTCF	chr11:86510700-86510850	A549	lung:	n/a	chr11:86510819-86510832
42	CTCF	chr11:86510680-86510830	HCFaa	heart:	n/a	n/a
43	CTCF	chr11:86510740-86510890	HCPEpiC	choroid plexus:	n/a	chr11:86510819-86510832
44	CTCF	chr11:86510702-86510917	K562	blood:	n/a	chr11:86510819-86510832
45	CTCF	chr11:86510940-86511090	A549	lung:	n/a	n/a
46	CTCF	chr11:86510700-86510850	HPAF	blood vessel:	n/a	chr11:86510819-86510832
47	CTCF	chr11:86510756-86510894	Gliobla	brain:	n/a	chr11:86510819-86510832
48	CTCF	chr11:86510740-86510890	WERI-Rb-1	eye:	n/a	chr11:86510819-86510832
49	CTCF	chr11:86510760-86510910	AG09309	skin:	n/a	chr11:86510819-86510832
50	CTCF	chr11:86510810-86510837	GM10266	blood:	n/a	chr11:86510819-86510832

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86511545-86511595	HAEpiC	amniotic membrane:	n/a
2	chr11:86511545-86511595	Caco-2	colon:	n/a
3	chr11:86512100-86512150	Caco-2	colon:	n/a
4	chr11:86511378-86511428	HL-60	blood:	n/a
5	chr11:86511210-86511260	T-47D	breast:	n/a
6	chr11:86511210-86511260	NH-A	brain:	n/a
7	chr11:86510915-86510965	HCF	heart:	n/a
8	chr11:86511386-86511436	HRPEpiC	eye:	n/a
9	chr11:86510998-86511048	GM12891	blood:	n/a
10	chr11:86511386-86511436	HCPEpiC	choroid plexus:	n/a
11	chr11:86511545-86511595	HRPEpiC	eye:	n/a
12	chr11:86511378-86511428	MCF-7	breast:	n/a
13	chr11:86511386-86511436	ECC-1	luminal epithelium:	n/a
14	chr11:86512100-86512150	SK-N-SH_RA	brain:	n/a
15	chr11:86511210-86511260	H1-hESC	embryonic stem cell:	embryo
16	chr11:86511813-86511863	PFSK-1	brain:	n/a
17	chr11:86511378-86511428	AG04449	skin:	fetal
18	chr11:86512100-86512150	CMK	blood:	n/a
19	chr11:86511378-86511428	HEK293	kidney:	embryo
20	chr11:86511378-86511428	HCT-116	colon:	n/a
21	chr11:86511545-86511595	GM12891	blood:	n/a
22	chr11:86512100-86512150	Hela-S3	cervix:	n/a
23	chr11:86512100-86512150	AG09319	gingival:	n/a
24	chr11:86511378-86511428	NT2-D1	testis:	n/a
25	chr11:86512100-86512150	HCF	heart:	n/a
26	chr11:86511210-86511260	NB4	blood:	n/a
27	chr11:86510915-86510965	AG09309	skin:	n/a
28	chr11:86511210-86511260	HMEC	breast:	n/a
29	chr11:86511378-86511428	HMEC	breast:	n/a
30	chr11:86511813-86511863	AG04449	skin:	fetal
31	chr11:86510998-86511048	H1-hESC	embryonic stem cell:	embryo
32	chr11:86511813-86511863	NT2-D1	testis:	n/a
33	chr11:86511210-86511260	K562	blood:	n/a
34	chr11:86510915-86510965	IMR90	lung:	fetal
35	chr11:86511386-86511436	AG04449	skin:	fetal
36	chr11:86511545-86511595	T-47D	breast:	n/a
37	chr11:86511545-86511595	AG04450	lung:	fetal
38	chr11:86511386-86511436	HIPEpiC	eye:	n/a
39	chr11:86511545-86511595	NB4	blood:	n/a
40	chr11:86512100-86512150	HCPEpiC	choroid plexus:	n/a
41	chr11:86511545-86511595	Jurkat	blood:	n/a
42	chr11:86511545-86511595	AG09309	skin:	n/a
43	chr11:86511210-86511260	Hepatocyte	liver:	n/a
44	chr11:86511378-86511428	SK-N-SH_RA	brain:	n/a
45	chr11:86510998-86511048	NHDF-neo	bronchial:	n/a
46	chr11:86511386-86511436	HNPCEpiC	eye:	n/a
47	chr11:86511545-86511595	NH-A	brain:	n/a
48	chr11:86511545-86511595	HEK293	kidney:	embryo
49	chr11:86511378-86511428	SAEC	small airway:	n/a
50	chr11:86511386-86511436	Hepatocyte	liver:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86319075..86319750-chr11:86510265..86511089,4	MCF-7	breast:
2	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
3	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
4	chr11:86166230..86170690-chr11:86512399..86515625,4	MCF-7	breast:
5	chr11:86511205..86511742-chr9:36258343..36258974,2	Hela-S3	cervix:
6	chr11:86404850..86407164-chr11:86508188..86511166,2	MCF-7	breast:
7	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
8	chr11:86510417..86513146-chr20:45982984..45985420,2	MCF-7	breast:
9	chr11:86192819..86194557-chr11:86511589..86513342,2	MCF-7	breast:
10	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
11	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
12	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
13	chr11:86432743..86434805-chr11:86511813..86513360,2	MCF-7	breast:
14	chr11:86387229..86387842-chr11:86510373..86511197,2	MCF-7	breast:
15	chr11:86440758..86442314-chr11:86511622..86514014,2	MCF-7	breast:
16	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
17	chr11:86419479..86421518-chr11:86511993..86513622,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM135-8	chr11:86511586-86511693	NONHSAT023495
2	lnc-TMEM135-8	chr11:86511586-86511693	NONHSAT023496

No data

Variant related genes	Relation type
PRSS23	TF binding region
PRSS23	CpG island
ENSG00000159921	chromatin interactions
ENSG00000254731	chromatin interactions
ENSG00000181830	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000151376	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141894504	chr11:86510723-86510724	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs570077939	chr11:86510727-86510728	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs201333376	chr11:86510728-86510729	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs188067314	chr11:86510736-86510737	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs571459103	chr11:86510755-86510756	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs3809048	chr11:86510783-86510784	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547649814	chr11:86510857-86510858	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs532291736	chr11:86510858-86510859	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs552004558	chr11:86510915-86510916	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs565743507	chr11:86510918-86510919	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs534685898	chr11:86510926-86510927	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs78697368	chr11:86511086-86511087	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs568519198	chr11:86511152-86511153	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs537281527	chr11:86511153-86511154	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs557544742	chr11:86511178-86511179	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs113412840	chr11:86511185-86511186	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs528997463	chr11:86511221-86511222	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs12787345	chr11:86511242-86511243	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553664308	chr11:86511316-86511317	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs11604191	chr11:86511350-86511351	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541019192	chr11:86511358-86511359	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs560850144	chr11:86511360-86511361	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs192348246	chr11:86511365-86511366	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs543119283	chr11:86511394-86511395	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs141169733	chr11:86511408-86511409	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs532131999	chr11:86511421-86511422	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs545731441	chr11:86511455-86511456	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs75598148	chr11:86511464-86511465	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs12787975	chr11:86511491-86511492	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs528502340	chr11:86511494-86511495	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs548547121	chr11:86511544-86511545	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs568328210	chr11:86511584-86511585	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs531054374	chr11:86511610-86511611	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs184568382	chr11:86511668-86511669	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs569458893	chr11:86511671-86511672	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs571066512	chr11:86511673-86511674	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs113168566	chr11:86511677-86511678	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs540030438	chr11:86511678-86511679	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs553750167	chr11:86511701-86511702	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs567148352	chr11:86511706-86511707	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs534357432	chr11:86511740-86511741	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs554568689	chr11:86511775-86511776	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs370196509	chr11:86511809-86511810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs144998118	chr11:86511824-86511825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs543512117	chr11:86511827-86511828	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs556627141	chr11:86511830-86511831	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs187401539	chr11:86511885-86511886	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs373599628	chr11:86511918-86511919	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs536737991	chr11:86512010-86512011	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs528402434	chr11:86512024-86512025	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86502400-86510800	Weak transcription	Fetal Intestine Large	intestine
2	chr11:86502600-86511000	Weak transcription	Fetal Kidney	kidney
3	chr11:86503600-86510800	Weak transcription	Pancreas	Pancrea
4	chr11:86504600-86510800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:86504600-86511000	Weak transcription	Psoas Muscle	Psoas
6	chr11:86505600-86510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:86506800-86510800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:86507200-86510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:86508200-86510800	Weak transcription	Fetal Stomach	stomach
10	chr11:86508200-86510800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:86508400-86510800	Weak transcription	Fetal Heart	heart
12	chr11:86508600-86511000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:86509600-86510800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86509800-86510800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:86509800-86510800	Enhancers	HSMM	muscle
16	chr11:86509800-86511000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:86510000-86510800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:86510000-86510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:86510000-86510800	Enhancers	Fetal Intestine Small	intestine
20	chr11:86510000-86510800	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:86510000-86511000	Enhancers	HUVEC	blood vessel
22	chr11:86510200-86510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:86510200-86510800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:86510200-86510800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:86510200-86510800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr11:86510200-86510800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr11:86510200-86510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:86510200-86510800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:86510200-86510800	Enhancers	HMEC	breast
30	chr11:86510200-86511000	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:86510200-86511000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:86510200-86511000	Enhancers	HSMMtube	muscle
33	chr11:86510200-86511200	Enhancers	Liver	Liver
34	chr11:86510200-86511200	Flanking Active TSS	Hela-S3	cervix
35	chr11:86510200-86511400	Flanking Active TSS	NH-A	brain
36	chr11:86510400-86510800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:86510400-86510800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:86510400-86510800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:86510400-86510800	Enhancers	NHEK	skin
40	chr11:86510400-86511000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86510400-86511000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:86510400-86511200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr11:86510400-86511200	Enhancers	Fetal Lung	lung
44	chr11:86510400-86511400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:86510400-86512200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:86510600-86510800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr11:86510600-86510800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:86510600-86510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:86510600-86510800	Enhancers	Adipose Nuclei	Adipose
50	chr11:86510600-86510800	Enhancers	Brain Hippocampus Middle	brain

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