Variant report

Variant	rs800931
Chromosome Location	chr1:70127789-70127790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70127107..70129282-chr1:70132209..70134675,3	K562	blood:
2	chr1:70121084..70123909-chr1:70126896..70129723,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489548	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10489553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889846	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889847	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11209508	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12023616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023624	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023834	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12026446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048977	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938920	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512342	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525565	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525668	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2764189	chr1:70111889-70137513	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70126000-70128200	Enhancers	Brain Hippocampus Middle	brain
2	chr1:70126000-70128800	Enhancers	Brain Anterior Caudate	brain
3	chr1:70126800-70128400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:70127000-70129000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:70127200-70128600	Enhancers	Brain Angular Gyrus	brain
6	chr1:70127400-70128000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:70127400-70128600	Enhancers	Brain Substantia Nigra	brain
8	chr1:70127600-70127800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr1:70127600-70128000	Enhancers	NH-A	brain
10	chr1:70127600-70128200	Enhancers	Brain Inferior Temporal Lobe	brain

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