Variant report

Variant	rs1630201
Chromosome Location	chr1:70032355-70032356
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	chr1:70028289..70031072-chr1:70031175..70033274,4	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10749793	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10749794	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10889838	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11209488	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11209490	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12027307	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12063209	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12116687	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12119817	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12567881	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12750500	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1418013	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1418016	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1592101	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4589058	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4650295	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71575482	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7529053	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7531427	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537519	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537706	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7539145	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs947421	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70021800-70032600	Weak transcription	K562	blood
2	chr1:70031800-70034200	Active TSS	Fetal Brain Female	brain
3	chr1:70032000-70032400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr1:70032000-70034000	Active TSS	Brain Hippocampus Middle	brain
5	chr1:70032000-70036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:70032200-70032400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:70032200-70032400	Enhancers	Fetal Brain Male	brain
8	chr1:70032200-70032400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr1:70032200-70032400	Bivalent Enhancer	Fetal Thymus	thymus
10	chr1:70032200-70032600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr1:70032200-70032800	Enhancers	Liver	Liver
12	chr1:70032200-70033200	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:70032200-70036800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:70032200-70038400	Active TSS	Brain Anterior Caudate	brain

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