Variant report

Variant	rs12022273
Chromosome Location	chr1:210931052-210931053
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10863854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11119583	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11119588	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11119589	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1114880	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12022312	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040025	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1317255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1340127	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1340128	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343147	0.96[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1770212	0.87[ASN][1000 genomes]
rs1770214	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1770215	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1770218	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1770220	0.96[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1777244	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1777247	0.96[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1777252	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1777254	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1777255	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1777256	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1777257	0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1777259	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1777263	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1890846	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1934625	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1934626	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1934632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1934633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2798147	0.90[JPT][hapmap]
rs9429845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9429848	0.91[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210921600-210931400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210928600-210931600	Weak transcription	Esophagus	oesophagus
4	chr1:210929000-210931200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:210929000-210931200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:210929200-210933000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:210929400-210931600	Weak transcription	HSMMtube	muscle
8	chr1:210930000-210931400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:210930000-210931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:210930000-210931400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:210930600-210931800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:210930800-210931200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:210930800-210931400	Enhancers	Brain Hippocampus Middle	brain
14	chr1:210930800-210931600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:210930800-210931600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:210930800-210931800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:210930800-210931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:210931000-210931200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:210931000-210931400	Enhancers	Brain Germinal Matrix	brain
20	chr1:210931000-210931600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:210931000-210931800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:210931000-210931800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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