Variant report

Variant	rs4142654
Chromosome Location	chr11:120167057-120167058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:120166997-120167121	K562	blood:	n/a	n/a
2	CTCF	chr11:120166960-120167110	HMEC	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
3	chr11:120161703..120167886-chr11:120168928..120172296,6	K562	blood:
4	chr11:120105745..120106386-chr11:120166391..120167340,4	K562	blood:
5	chr11:120166386..120168824-chr11:120169274..120170936,2	K562	blood:
6	chr11:120163792..120168404-chr11:120169163..120175266,6	MCF-7	breast:
7	chr11:120105986..120110139-chr11:120162692..120168380,9	K562	blood:
8	chr11:120151169..120153171-chr11:120166306..120168232,2	K562	blood:

No data

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11217786	0.92[ASN][1000 genomes]
rs11217797	1.00[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11217798	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11217799	1.00[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11217800	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11217802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217805	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217806	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11217807	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11217813	0.88[GIH][hapmap]
rs11603274	0.81[EUR][1000 genomes]
rs11603307	0.81[EUR][1000 genomes]
rs11603757	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11607289	0.81[EUR][1000 genomes]
rs12224052	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12225696	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418329	1.00[ASW][hapmap]
rs12576881	0.88[GIH][hapmap]
rs17123780	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1941410	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs2298579	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3824883	0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4616049	0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4936514	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4938794	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6589804	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs744984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120166200-120168000	Weak transcription	Pancreas	Pancrea
2	chr11:120166400-120167800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:120166600-120167800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:120166600-120170200	Weak transcription	Hela-S3	cervix
5	chr11:120166800-120167800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:120166800-120167800	Weak transcription	NHEK	skin
7	chr11:120166800-120170400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:120167000-120170400	Weak transcription	Fetal Intestine Large	intestine

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