Variant report

Variant	rs1114880
Chromosome Location	chr1:210948383-210948384
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	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10863854	0.88[ASN][1000 genomes]
rs11119583	0.82[ASN][1000 genomes]
rs11119588	0.87[ASN][1000 genomes]
rs11119589	0.89[ASN][1000 genomes]
rs12022273	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12022312	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12040025	0.88[ASN][1000 genomes]
rs1317255	0.88[ASN][1000 genomes]
rs1340127	0.86[ASN][1000 genomes]
rs1340128	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1343147	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1770212	0.90[ASN][1000 genomes]
rs1770214	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1770215	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1770218	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1770220	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1777244	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1777247	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1777252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777254	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1777255	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1777256	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1777257	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1777259	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1777263	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1890846	0.85[ASN][1000 genomes]
rs1891661	0.85[EUR][1000 genomes]
rs1934625	0.83[ASN][1000 genomes]
rs1934626	0.83[ASN][1000 genomes]
rs1934632	0.88[ASN][1000 genomes]
rs1934633	0.87[ASN][1000 genomes]
rs2798145	0.83[AMR][1000 genomes]
rs9429845	0.88[ASN][1000 genomes]
rs9429848	0.87[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210941800-210978000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210943000-210952800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:210944400-210965800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:210945000-210954800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:210946800-210965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:210947000-210949600	Strong transcription	HSMMtube	muscle
7	chr1:210947200-210949800	Strong transcription	HSMM	muscle
8	chr1:210947400-210949200	Enhancers	Pancreatic Islets	Pancreatic Islet

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