Variant report

Variant	rs17016247
Chromosome Location	chr1:210643012-210643013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34549224	0.81[CEU][hapmap]
rs3765846	0.81[CEU][hapmap]
rs4845032	0.81[CEU][hapmap]
rs4845034	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747449	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs910032	0.81[CEU][hapmap]
rs926574	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs926578	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4376	chr1:210627620-210672326	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17016247	C1orf186	cis	cerebellum	SCAN
rs17016247	KCNH1	cis	parietal	SCAN
rs17016247	AVPR1B	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210626200-210650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210631000-210644200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:210631000-210653800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:210636400-210646000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:210638400-210644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:210639400-210668200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:210640000-210650600	Weak transcription	Left Ventricle	heart
8	chr1:210640000-210660400	Weak transcription	Aorta	Aorta
9	chr1:210640400-210648400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:210641200-210644000	Weak transcription	HSMM	muscle
11	chr1:210642400-210643200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:210642600-210643600	Strong transcription	HSMMtube	muscle

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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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