Variant report

Variant	rs4848348
Chromosome Location	chr2:114529665-114529666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1044836	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs17631970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17632866	1.00[ASN][1000 genomes]
rs17682863	1.00[ASN][1000 genomes]
rs28510924	1.00[ASN][1000 genomes]
rs36094493	0.95[ASN][1000 genomes]
rs3748905	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3762492	1.00[ASN][1000 genomes]
rs41439449	1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848346	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849267	1.00[ASN][1000 genomes]
rs6741710	1.00[JPT][hapmap]
rs72944700	1.00[ASN][1000 genomes]
rs72946611	1.00[ASN][1000 genomes]
rs72946618	1.00[ASN][1000 genomes]
rs72946619	1.00[ASN][1000 genomes]
rs72946635	1.00[ASN][1000 genomes]
rs72946641	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3521146	chr2:114525732-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3521145	chr2:114526082-114532730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3521150	chr2:114526469-114532141	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3459738	chr2:114526683-114531812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3521147	chr2:114526695-114531786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3521149	chr2:114526701-114531806	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3459739	chr2:114526728-114531791	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3521144	chr2:114526738-114531733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3521143	chr2:114526763-114531745	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3521148	chr2:114526814-114531704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv498931	chr2:114526817-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3459740	chr2:114526818-114531702	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3521151	chr2:114526818-114531702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv14064	chr2:114527121-114531330	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4848348	MGC70863	trans	multi-tissue	Pritchard
rs4848348	RPL23AP7	cis	multi-tissue	Pritchard

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114529400-114529800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:114529400-114529800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114529600-114529800	Enhancers	NHDF-Ad	bronchial

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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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