Variant report

Variant	rs12568908
Chromosome Location	chr1:172061774-172061775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172047980..172049973-chr1:172059181..172061869,2	K562	blood:
2	chr1:172057250..172060072-chr1:172060422..172061961,2	K562	blood:
3	chr1:172061150..172062084-chr1:172368563..172369443,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10218642	0.90[ASN][1000 genomes]
rs12561987	0.83[ASN][1000 genomes]
rs12562173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12562275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12562403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564349	1.00[EUR][1000 genomes]
rs12568723	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12569096	1.00[EUR][1000 genomes]
rs12569236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569310	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843769	0.87[JPT][hapmap]
rs16843771	0.88[JPT][hapmap]
rs16843772	0.82[JPT][hapmap]
rs16843775	0.88[JPT][hapmap]
rs16843777	0.88[JPT][hapmap]
rs16843795	0.87[JPT][hapmap]
rs16843801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16843816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16843819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16843820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843831	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843841	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843842	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843915	1.00[EUR][1000 genomes]
rs16843935	1.00[EUR][1000 genomes]
rs34737151	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3924561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4264026	0.86[ASN][1000 genomes]
rs4916417	0.88[JPT][hapmap]
rs4916419	0.88[JPT][hapmap]
rs4916420	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59665490	1.00[EUR][1000 genomes]
rs73039343	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172041600-172061800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:172046600-172076800	Weak transcription	Fetal Brain Female	brain
4	chr1:172048000-172083800	Weak transcription	Aorta	Aorta
5	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:172052400-172091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:172057800-172074000	Weak transcription	Fetal Lung	lung
8	chr1:172059600-172064800	Weak transcription	Fetal Stomach	stomach
9	chr1:172060000-172062000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:172060800-172062200	Weak transcription	Ovary	ovary
11	chr1:172060800-172064200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:172061200-172062400	Enhancers	Brain Hippocampus Middle	brain
13	chr1:172061600-172061800	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:172061600-172062200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:172061600-172062600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:172061600-172062600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:172061600-172063600	Weak transcription	Brain Substantia Nigra	brain

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