Variant report

Variant	rs9630991
Chromosome Location	chr2:191432139-191432140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165399	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10173771	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11680758	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12611871	0.92[EUR][1000 genomes]
rs13006708	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13410230	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28452331	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4321393	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4853513	0.93[EUR][1000 genomes]
rs6434402	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6724607	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7598979	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7603849	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9630991	HIBCH	cis	Muscle Skeletal	GTEx
rs9630991	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191427200-191443000	Weak transcription	Right Ventricle	heart
3	chr2:191427600-191441400	Weak transcription	Aorta	Aorta
4	chr2:191431200-191437000	Weak transcription	Stomach Mucosa	stomach
5	chr2:191432000-191432200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:191432000-191433200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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