Variant report

Variant	rs11217807
Chromosome Location	chr11:120170030-120170031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:120169900-120170065	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr11:120169903-120171287	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr11:120169886-120171278	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:120166386..120168824-chr11:120169274..120170936,2	K562	blood:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
4	chr11:120149912..120152911-chr11:120168871..120171487,3	K562	blood:
5	chr11:120105385..120106108-chr11:120170023..120170943,3	MCF-7	breast:
6	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
7	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
8	chr11:120105076..120106736-chr11:120169805..120171450,18	K562	blood:

No data

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11217786	0.92[ASN][1000 genomes]
rs11217797	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11217798	0.96[ASN][1000 genomes]
rs11217799	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11217800	0.96[ASN][1000 genomes]
rs11217802	0.99[ASN][1000 genomes]
rs11217803	0.99[ASN][1000 genomes]
rs11217804	0.99[ASN][1000 genomes]
rs11217805	0.99[ASN][1000 genomes]
rs11217806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217813	0.91[GIH][hapmap]
rs12224052	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225696	0.99[ASN][1000 genomes]
rs12226432	1.00[CEU][hapmap]
rs12418329	1.00[ASW][hapmap]
rs12576881	0.91[GIH][hapmap]
rs1551240	1.00[CEU][hapmap]
rs1941410	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs2298579	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3824883	0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4142654	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]
rs4616049	0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs744984	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120166600-120170200	Weak transcription	Hela-S3	cervix
2	chr11:120166800-120170400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:120167000-120170400	Weak transcription	Fetal Intestine Large	intestine
4	chr11:120167800-120170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:120168400-120170200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:120168400-120170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120168800-120170200	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:120168800-120170800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr11:120169200-120170200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:120169200-120170200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:120169200-120170200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:120169400-120170200	Weak transcription	GM12878-XiMat	blood
13	chr11:120169400-120170800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:120169600-120170200	Weak transcription	Pancreas	Pancrea
15	chr11:120169600-120178200	Enhancers	Placenta	Placenta
16	chr11:120169800-120171200	Enhancers	NHEK	skin
17	chr11:120170000-120170800	Enhancers	HMEC	breast
18	chr11:120170000-120171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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