Variant report

Variant	rs12122529
Chromosome Location	chr1:211222788-211222789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10863875	0.84[EUR][1000 genomes]
rs11119671	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11119672	0.88[CEU][hapmap];0.89[MKK][hapmap];0.82[EUR][1000 genomes]
rs11119674	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12124026	0.83[CHD][hapmap]
rs12127815	0.83[EUR][1000 genomes]
rs1832430	0.83[EUR][1000 genomes]
rs4072301	0.88[CEU][hapmap];0.89[MKK][hapmap];0.84[EUR][1000 genomes]
rs4364937	0.87[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4391724	0.83[CEU][hapmap];0.93[YRI][hapmap]
rs4486506	0.87[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4628570	0.87[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.89[MKK][hapmap];0.93[YRI][hapmap]
rs4951495	0.83[CHD][hapmap]
rs4951712	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6540652	0.87[ASW][hapmap];0.88[CEU][hapmap];0.95[MKK][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6657055	0.84[AFR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12122529	KCNH1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211182800-211228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211210800-211228600	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:211215400-211225800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:211215800-211225600	Weak transcription	HSMMtube	muscle
5	chr1:211216000-211224600	Weak transcription	HSMM	muscle
6	chr1:211221000-211228400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:211222600-211223400	Enhancers	Brain Angular Gyrus	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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