Variant report

Variant	rs7752730
Chromosome Location	chr6:106955602-106955603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:106955540-106955690	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106955204..106959628-chr6:106966256..106969365,4	K562	blood:
2	chr6:106937827..106940200-chr6:106954581..106957012,2	K562	blood:

Variant related genes	Relation type
AIM1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1159148	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MKK][hapmap];0.92[ASN][1000 genomes]
rs13193036	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MKK][hapmap];0.96[ASN][1000 genomes]
rs13194986	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13202942	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs13207381	1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs13218830	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs13218960	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs13219061	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs13220097	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495644	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17495720	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17560979	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs1841688	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1841689	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1870866	1.00[ASN][1000 genomes]
rs2054365	1.00[CHB][hapmap]
rs2297970	1.00[CHB][hapmap]
rs2306099	0.92[ASN][1000 genomes]
rs2353050	0.96[ASN][1000 genomes]
rs34590393	0.92[ASN][1000 genomes]
rs35090908	0.96[ASN][1000 genomes]
rs35452551	0.96[ASN][1000 genomes]
rs35546863	0.82[ASN][1000 genomes]
rs35790766	0.92[ASN][1000 genomes]
rs35843244	0.92[ASN][1000 genomes]
rs55858175	0.92[ASN][1000 genomes]
rs56361614	0.89[ASN][1000 genomes]
rs72941340	0.82[ASN][1000 genomes]
rs7740989	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs7756087	1.00[CHB][hapmap]
rs9320173	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9320174	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9320175	0.82[ASN][1000 genomes]
rs9480681	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9480682	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486381	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486382	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486383	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486384	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486385	0.82[ASN][1000 genomes]
rs9486386	0.82[ASN][1000 genomes]
rs9486387	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9486388	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1025510	chr6:106791080-106982400	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538404	chr6:106791080-106982400	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106945600-106957600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:106950000-106957800	Weak transcription	Pancreas	Pancrea
3	chr6:106950600-106956600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:106951200-106956600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:106951200-106957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:106951400-106956600	Weak transcription	Hela-S3	cervix
7	chr6:106951400-106957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:106951600-106956600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:106951600-106956600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:106951600-106957000	Weak transcription	NHEK	skin
11	chr6:106952600-106957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:106955000-106956000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:106955400-106957400	Weak transcription	Esophagus	oesophagus
14	chr6:106955600-106957400	Weak transcription	HMEC	breast

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