Variant report

Variant	rs1447244
Chromosome Location	chr8:99946602-99946603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99941131..99944332-chr8:99944576..99947725,3	K562	blood:
2	chr8:99946409..99949543-chr8:99954979..99957552,3	K562	blood:
3	chr8:99942235..99943803-chr8:99945712..99947725,2	K562	blood:
4	chr8:99931553..99934461-chr8:99944325..99946823,2	MCF-7	breast:
5	chr8:99945155..99947475-chr8:100009371..100011688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction
ENSG00000223281	Chromatin interaction
ENSG00000271930	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000263842	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11985354	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985377	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987297	0.90[CHB][hapmap];0.85[YRI][hapmap];0.97[ASN][1000 genomes]
rs11987308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987800	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988364	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989805	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990131	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990888	0.88[ASN][1000 genomes]
rs11993237	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995021	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996944	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997079	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997104	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997495	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998168	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11998245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897132	0.97[ASN][1000 genomes]
rs35082816	0.87[ASN][1000 genomes]
rs35318343	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35755686	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4501558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4585717	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734415	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4734422	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734423	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734427	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4734428	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735583	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735584	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4735586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735587	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735590	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735595	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735596	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735605	0.88[ASN][1000 genomes]
rs57231976	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672316	0.88[ASN][1000 genomes]
rs745721	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814120	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814617	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818738	0.88[ASN][1000 genomes]
rs7819606	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7829389	0.84[ASN][1000 genomes]
rs7832595	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99940600-99949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:99941800-99948800	Weak transcription	Esophagus	oesophagus
3	chr8:99943800-99948800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:99944000-99948200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:99944000-99948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:99944000-99948800	Weak transcription	NHEK	skin
7	chr8:99944000-99949200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:99944200-99948400	Weak transcription	NHDF-Ad	bronchial
9	chr8:99944200-99948600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:99945000-99948200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:99945600-99946800	Enhancers	Fetal Muscle Leg	muscle
12	chr8:99945800-99946800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:99946200-99947000	Enhancers	Ovary	ovary

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