Variant report

Variant	rs74052443
Chromosome Location	chr11:4599660-4599661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:4599555-4599752	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4599637-4599687	H1-hESC	embryonic stem cell:	embryo
2	chr11:4599637-4599687	T-47D	breast:	n/a
3	chr11:4599637-4599687	GM12891	blood:	n/a
4	chr11:4599637-4599687	HepG2	liver:	n/a
5	chr11:4599637-4599687	MCF-7	breast:	n/a
6	chr11:4599637-4599687	HCT-116	colon:	n/a
7	chr11:4599637-4599687	ProgFib	skin:	n/a
8	chr11:4599637-4599687	HMEC	breast:	n/a
9	chr11:4599637-4599687	HEEpiC	esophagus:	n/a
10	chr11:4599637-4599687	PANC-1	pancreas:	n/a
11	chr11:4599637-4599687	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:4599637-4599687	HRCEpiC	kidney:	n/a
13	chr11:4599637-4599687	HRPEpiC	eye:	n/a
14	chr11:4599637-4599687	SK-N-SH	brain:	n/a
15	chr11:4599637-4599687	K562	blood:	n/a
16	chr11:4599637-4599687	LNCaP	prostate:	n/a
17	chr11:4599637-4599687	AoSMC	blood vessel:	n/a
18	chr11:4599637-4599687	HNPCEpiC	eye:	n/a
19	chr11:4599637-4599687	GM12878	blood:	n/a
20	chr11:4599637-4599687	HCPEpiC	choroid plexus:	n/a
21	chr11:4599637-4599687	GM06990	blood:	n/a
22	chr11:4599637-4599687	IMR90	lung:	fetal
23	chr11:4599637-4599687	Hepatocyte	liver:	n/a
24	chr11:4599637-4599687	AG04449	skin:	fetal
25	chr11:4599637-4599687	HL-60	blood:	n/a
26	chr11:4599637-4599687	SK-N-MC	brain:	n/a
27	chr11:4599637-4599687	ovcar-3	ovarian:	n/a
28	chr11:4599637-4599687	AG04450	lung:	fetal
29	chr11:4599637-4599687	BE2_C	brain:	n/a
30	chr11:4599637-4599687	HAEpiC	amniotic membrane:	n/a
31	chr11:4599637-4599687	HCM	heart:	n/a
32	chr11:4599637-4599687	NHBE	bronchial:	n/a
33	chr11:4599637-4599687	HCF	heart:	n/a
34	chr11:4599637-4599687	PrEC	prostate:	n/a
35	chr11:4599637-4599687	NB4	blood:	n/a
36	chr11:4599637-4599687	HEK293	kidney:	embryo
37	chr11:4599637-4599687	NT2-D1	testis:	n/a
38	chr11:4599637-4599687	SK-N-SH_RA	brain:	n/a
39	chr11:4599637-4599687	Jurkat	blood:	n/a
40	chr11:4599637-4599687	NH-A	brain:	n/a
41	chr11:4599637-4599687	MCF10A-Er-Src	breast:	n/a
42	chr11:4599637-4599687	Caco-2	colon:	n/a
43	chr11:4599637-4599687	HRE	kidney:	n/a
44	chr11:4599637-4599687	HUVEC	blood vessel:	n/a
45	chr11:4599637-4599687	AG09309	skin:	n/a
46	chr11:4599637-4599687	A549	lung:	n/a
47	chr11:4599637-4599687	HIPEpiC	eye:	n/a
48	chr11:4599637-4599687	ECC-1	luminal epithelium:	n/a
49	chr11:4599637-4599687	PFSK-1	brain:	n/a
50	chr11:4599637-4599687	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
C11orf40	TF binding region
C11orf40	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55795398	1.00[AMR][1000 genomes]
rs73395869	1.00[AMR][1000 genomes]
rs73397799	1.00[AMR][1000 genomes]
rs73397801	1.00[AMR][1000 genomes]
rs73399603	1.00[AMR][1000 genomes]
rs73399609	1.00[AMR][1000 genomes]
rs73399648	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2762892	chr11:4541825-4619236	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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