Variant report

Variant	rs4337479
Chromosome Location	chr2:113453206-113453207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10432586	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10432600	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685224	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11692234	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848290	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848292	0.85[CHB][hapmap]
rs4848293	0.85[CHB][hapmap]
rs4848296	1.00[CHB][hapmap]
rs4849101	0.81[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4849102	0.86[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs55912748	0.86[ASN][1000 genomes]
rs6705487	0.84[JPT][hapmap]
rs6728935	0.86[JPT][hapmap]
rs6746908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589655	0.86[ASN][1000 genomes]
rs9308677	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308678	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4337479	SLC20A1	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113449200-113456800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:113450800-113456000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:113450800-113456200	Weak transcription	Primary B cells from cord blood	blood
4	chr2:113451000-113455000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:113451000-113455000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:113451200-113456400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:113451400-113454800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:113451400-113455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:113451400-113455400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:113451600-113454400	Weak transcription	K562	blood
11	chr2:113451600-113455400	Weak transcription	GM12878-XiMat	blood
12	chr2:113451800-113462800	Weak transcription	Dnd41	blood
13	chr2:113452200-113454600	Weak transcription	Primary hematopoietic stem cells short term culture	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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