Variant report

Variant	rs12274618
Chromosome Location	chr11:107731540-107731541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:107731540-107731690	GM12872	blood:	n/a	n/a
2	CTCF	chr11:107731500-107731650	GM12873	blood:	n/a	n/a
3	CTCF	chr11:107731500-107731650	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr11:107731460-107731610	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr11:107731520-107731670	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr11:107731500-107731650	Caco-2	colon:	n/a	n/a
7	CTCF	chr11:107731500-107731650	HMF	breast:	n/a	n/a
8	CTCF	chr11:107731500-107731650	AG04450	lung:	n/a	n/a
9	CTCF	chr11:107731400-107731550	HCT-116	colon:	n/a	n/a
10	CTCF	chr11:107731460-107731610	GM12864	blood:	n/a	n/a
11	CTCF	chr11:107731480-107731630	GM12865	blood:	n/a	n/a
12	CTCF	chr11:107731520-107731670	HepG2	liver:	n/a	n/a
13	CTCF	chr11:107731500-107731650	GM12878	blood:	n/a	n/a
14	CTCF	chr11:107731540-107731690	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr11:107731494-107731627	K562	blood:	n/a	n/a
16	CTCF	chr11:107731440-107731590	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr11:107731540-107731690	HRE	kidney:	n/a	n/a
18	CTCF	chr11:107731540-107731690	HEK293	kidney:	n/a	n/a
19	CTCF	chr11:107731500-107731650	NHEK	skin:	n/a	n/a
20	CTCF	chr11:107731480-107731630	BE2_C	brain:	n/a	n/a
21	CTCF	chr11:107731540-107731690	Caco-2	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107728941..107731899-chr11:107878493..107880123,2	K562	blood:
2	chr11:107459711..107461881-chr11:107729122..107732071,2	K562	blood:

No data

Variant related genes	Relation type
SLC35F2	TF binding region
ENSG00000166266	Chromatin interaction
ENSG00000110675	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10890771	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12296042	0.91[AFR][1000 genomes]
rs28414916	0.86[AFR][1000 genomes]
rs56132728	0.91[AFR][1000 genomes]
rs73548834	0.87[EUR][1000 genomes]
rs73548839	0.87[EUR][1000 genomes]
rs73548843	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1045388	chr11:107686808-107733498	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1043139	chr11:107725297-107869216	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv898381	chr11:107729106-107847983	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107729600-107731600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:107730800-107731600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:107730800-107733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:107731000-107731600	Enhancers	GM12878-XiMat	blood
5	chr11:107731000-107734200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:107731200-107731600	Enhancers	HepG2	liver

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