Variant report

Variant	rs2687623
Chromosome Location	chr2:114550464-114550465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10167730	0.90[ASN][1000 genomes]
rs10177576	0.86[ASN][1000 genomes]
rs10179657	0.87[ASN][1000 genomes]
rs10209330	0.91[ASN][1000 genomes]
rs10496453	0.84[ASN][1000 genomes]
rs11123207	0.89[ASN][1000 genomes]
rs11686297	0.90[ASN][1000 genomes]
rs11694130	0.90[ASN][1000 genomes]
rs12613159	0.84[ASN][1000 genomes]
rs12711788	0.87[ASN][1000 genomes]
rs17040397	0.84[ASN][1000 genomes]
rs2122097	0.89[ASN][1000 genomes]
rs2442136	0.89[ASN][1000 genomes]
rs2595140	0.80[ASN][1000 genomes]
rs2595152	0.84[ASN][1000 genomes]
rs2687626	0.85[ASN][1000 genomes]
rs2687627	0.90[ASN][1000 genomes]
rs2687628	0.80[ASN][1000 genomes]
rs28451366	0.89[ASN][1000 genomes]
rs34332133	0.84[ASN][1000 genomes]
rs35734534	0.85[ASN][1000 genomes]
rs4848349	0.89[ASN][1000 genomes]
rs4848350	0.84[ASN][1000 genomes]
rs4849275	0.90[ASN][1000 genomes]
rs4849277	0.92[ASN][1000 genomes]
rs4849278	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4849279	0.90[ASN][1000 genomes]
rs6711542	0.92[ASN][1000 genomes]
rs7600228	0.90[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	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2687623	RPL23AP7	cis	Artery Tibial	GTEx
rs2687623	RPL23AP7	cis	Whole Blood	GTEx
rs2687623	RPL23AP7	cis	lung	GTEx
rs2687623	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs2687623	RPL23AP7	cis	Artery Aorta	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114550000-114550800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:114550000-114552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114550000-114552600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:114550000-114552800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:114550000-114552800	Weak transcription	HSMM	muscle
6	chr2:114550000-114557000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:114550200-114550600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:114550200-114550600	Enhancers	GM12878-XiMat	blood
9	chr2:114550200-114552400	Weak transcription	Fetal Intestine Large	intestine
10	chr2:114550200-114552400	Weak transcription	A549	lung
11	chr2:114550200-114552400	Weak transcription	Osteobl	bone
12	chr2:114550200-114552600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:114550200-114552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:114550200-114552600	Weak transcription	NHLF	lung
15	chr2:114550200-114553000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:114550200-114555800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:114550200-114563800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:114550400-114552600	Weak transcription	Fetal Kidney	kidney
19	chr2:114550400-114552800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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