Variant report

Variant	rs45569531
Chromosome Location	chr11:104871623-104871624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:104871614-104871868	HepG2	liver:	n/a	n/a
2	SMC3	chr11:104871564-104871904	HepG2	liver:	n/a	n/a
3	RAD21	chr11:104871607-104871845	GM12878	blood:	n/a	n/a
4	CTCF	chr11:104871506-104871845	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:104871600-104871890	GM12892	blood:	n/a	n/a
6	RAD21	chr11:104871584-104871856	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr11:104871600-104871864	Hela-S3	cervix:	n/a	n/a
8	SETDB1	chr11:104871605-104872034	U2OS	brain:	n/a	n/a
9	MAX	chr11:104871503-104871981	HCT-116	colon:	n/a	chr11:104871686-104871696
10	CTCF	chr11:104871620-104871770	HRPEpiC	eye:	n/a	n/a
11	RAD21	chr11:104871588-104871967	HepG2	liver:	n/a	n/a
12	CTCF	chr11:104871577-104871907	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr11:104871614-104871892	GM12891	blood:	n/a	n/a
14	CTCF	chr11:104871617-104871856	ProgFib	skin:	n/a	n/a
15	SMC3	chr11:104871606-104872064	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:104871540-104871690	WI-38	lung:	n/a	n/a
17	CTCF	chr11:104871620-104871770	GM12801	blood:	n/a	n/a
18	CTCF	chr11:104871600-104871750	HFF	foreskin:	n/a	n/a
19	CEBPB	chr11:104871581-104872704	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr11:104871520-104871670	A549	lung:	n/a	n/a
21	MYC	chr11:104871509-104871911	NB4	blood:	n/a	chr11:104871686-104871696
22	CTCF	chr11:104871584-104871835	SK-N-SH_RA	brain:	n/a	n/a
23	IRF1	chr11:104871565-104871810	K562	blood:	n/a	n/a
24	TEAD4	chr11:104871558-104871951	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr11:104871555-104871905	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr11:104871517-104871915	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr11:104871520-104871918	H1-hESC	embryonic stem cell:	n/a	chr11:104871686-104871696
28	CTCF	chr11:104871600-104871750	HMEC	breast:	n/a	n/a
29	IRF1	chr11:104871616-104871754	K562	blood:	n/a	n/a
30	CTCF	chr11:104871620-104871770	HL-60	blood:	n/a	n/a
31	CTCF	chr11:104871620-104871770	HEEpiC	esophagus:	n/a	n/a
32	SMC3	chr11:104871546-104871956	GM12878	blood:	n/a	n/a
33	CTCF	chr11:104871592-104871848	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr11:104871611-104871863	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:104871620-104871770	HBMEC	blood vessel:	n/a	n/a
36	ZNF143	chr11:104871557-104871915	GM12878	blood:	n/a	n/a
37	RAD21	chr11:104871539-104871972	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:104871620-104871770	AG04450	lung:	n/a	n/a
39	CTCF	chr11:104871577-104871899	GM12878	blood:	n/a	n/a
40	CTCF	chr11:104871618-104871853	Gliobla	brain:	n/a	n/a
41	RAD21	chr11:104871564-104871874	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr11:104871623-104871863	GM13976	blood:	n/a	n/a
43	CTCF	chr11:104871600-104871750	BE2_C	brain:	n/a	n/a
44	CTCF	chr11:104871517-104871949	GM12878	blood:	n/a	n/a
45	RAD21	chr11:104871537-104871917	HCT-116	colon:	n/a	n/a
46	RAD21	chr11:104871512-104871951	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr11:104871570-104871795	GM12878	blood:	n/a	n/a
48	CTCF	chr11:104871480-104871630	AG04450	lung:	n/a	n/a
49	MAX	chr11:104871496-104871883	NB4	blood:	n/a	chr11:104871686-104871696
50	CTCF	chr11:104871615-104871869	T-47D	breast:	n/a	n/a

No data

Variant related genes	Relation type
CASP5	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11574692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45455694	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45525741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104864000-104877800	Weak transcription	Fetal Intestine Small	intestine
2	chr11:104865600-104872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:104870400-104871800	Enhancers	HepG2	liver
4	chr11:104870400-104874400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:104871000-104874800	Weak transcription	Liver	Liver
6	chr11:104871200-104872800	Enhancers	Placenta	Placenta
7	chr11:104871600-104871800	Enhancers	Pancreas	Pancrea
8	chr11:104871600-104871800	Enhancers	Hela-S3	cervix
9	chr11:104871600-104872000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr11:104871600-104872000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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