Variant report

Variant	rs10494930
Chromosome Location	chr1:211094848-211094849
allele	A/G
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:14)

rs_ID	r²[population]
rs12082952	1.00[CHB][hapmap];0.92[GIH][hapmap];0.93[ASN][1000 genomes]
rs17017087	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs17017120	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs2062674	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4951489	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951684	1.00[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4951685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951690	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951691	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951692	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951696	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951703	0.82[ASN][1000 genomes]
rs4951705	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs6671566	1.00[CHB][hapmap];0.84[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873154	chr1:211057697-211117197	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10494930	RD3	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211089200-211098800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211091600-211096000	Weak transcription	HSMMtube	muscle
3	chr1:211091800-211096200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:211092000-211096400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:211092000-211096400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:211093400-211110800	Weak transcription	HSMM	muscle
7	chr1:211094000-211095400	Enhancers	Liver	Liver
8	chr1:211094000-211095400	Enhancers	K562	blood
9	chr1:211094800-211096000	Weak transcription	A549	lung

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

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