Variant report

Variant	rs4603130
Chromosome Location	chr1:223686766-223686767
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:15)

rs_ID	r²[population]
rs10907384	0.88[ASN][1000 genomes]
rs12046541	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12063062	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3922892	0.91[ASN][1000 genomes]
rs3935462	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4456085	0.91[ASN][1000 genomes]
rs4559495	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4661271	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4661273	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4661278	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61823509	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61823516	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682926	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6685694	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7554045	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv520420	chr1:223682051-223693162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4603130	C13orf38	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223683200-223686800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:223683400-223686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:223684800-223689000	Weak transcription	Right Atrium	heart
4	chr1:223685200-223689000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:223685800-223689000	Weak transcription	HMEC	breast
6	chr1:223685800-223690400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:223685800-223690600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr1:223686000-223689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:223686200-223691200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:223686400-223687800	Enhancers	Primary T cells from cord blood	blood
11	chr1:223686600-223686800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:223686600-223690400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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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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