Variant report

Variant	rs6675508
Chromosome Location	chr1:62767190-62767191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10157938	0.90[CHB][hapmap];0.94[ASN][1000 genomes]
rs10465842	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10493318	0.90[JPT][hapmap]
rs10889318	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207955	0.90[JPT][hapmap]
rs11207956	0.90[JPT][hapmap]
rs12031176	0.86[JPT][hapmap]
rs12038843	0.90[JPT][hapmap]
rs12127630	0.81[JPT][hapmap]
rs12138544	0.90[JPT][hapmap]
rs12749514	0.89[ASN][1000 genomes]
rs1325740	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886833	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1886834	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925827	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2366207	0.87[ASN][1000 genomes]
rs2477874	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2666509	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2765266	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2765268	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2765269	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs35126231	0.87[ASN][1000 genomes]
rs3850629	0.82[JPT][hapmap]
rs3861936	0.89[JPT][hapmap]
rs4915606	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4915607	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6587966	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658312	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6675627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514266	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7528920	0.90[ASN][1000 genomes]
rs881548	0.90[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs9803815	0.90[JPT][hapmap]

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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3320078	chr1:62765222-62770871	Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3320079	chr1:62765252-62770865	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3320077	chr1:62765307-62770822	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3320080	chr1:62765307-62770822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv520333	chr1:62766527-62769887	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62759800-62770800	Enhancers	Fetal Muscle Leg	muscle
3	chr1:62761800-62767200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:62762200-62767200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:62762200-62773200	Weak transcription	Fetal Lung	lung
6	chr1:62764800-62768000	Enhancers	Pancreas	Pancrea
7	chr1:62765000-62767600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:62765000-62768000	Enhancers	Fetal Stomach	stomach
9	chr1:62765200-62767600	Genic enhancers	HepG2	liver
10	chr1:62765600-62767800	Enhancers	Brain Substantia Nigra	brain
11	chr1:62766000-62768600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:62766000-62770000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:62766000-62770200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:62766200-62767800	Weak transcription	Fetal Heart	heart
15	chr1:62766400-62767600	Weak transcription	Fetal Kidney	kidney
16	chr1:62766600-62767200	Bivalent Enhancer	Brain Hippocampus Middle	brain
17	chr1:62766800-62767200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
18	chr1:62766800-62768000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:62766800-62770200	Weak transcription	Gastric	stomach
20	chr1:62767000-62767600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr1:62767000-62768000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:62767000-62769000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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