Variant report

Variant	rs7514382
Chromosome Location	chr1:221987183-221987184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10746414	1.00[CHB][hapmap]
rs11118883	1.00[CHB][hapmap]
rs11577023	1.00[CHB][hapmap]
rs11577677	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582814	1.00[CHB][hapmap]
rs11590053	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125690	1.00[CHB][hapmap]
rs17010889	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010850	0.85[EUR][1000 genomes]
rs4418610	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4528124	0.82[JPT][hapmap]
rs4551601	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639769	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825191	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825193	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825195	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515604	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519761	0.82[JPT][hapmap]
rs7544656	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441877	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441974	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441979	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221984000-221990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:221984400-221989600	Weak transcription	HSMM	muscle
4	chr1:221984400-221989800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:221984600-221989800	Weak transcription	Osteobl	bone
6	chr1:221984600-221990000	Weak transcription	NHLF	lung
7	chr1:221984600-221997200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:221984800-221989000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:221984800-221989000	Weak transcription	HMEC	breast
10	chr1:221984800-221989600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:221984800-221989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:221984800-221989600	Weak transcription	NHEK	skin
13	chr1:221984800-221989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:221984800-221990000	Weak transcription	NH-A	brain
15	chr1:221985000-221988200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:221985800-221991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:221986000-221987600	Enhancers	K562	blood
18	chr1:221987000-221987600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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