Variant report

Variant	rs2562514
Chromosome Location	chr5:76076924-76076925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs153313	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs181837	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250724	0.82[ASN][1000 genomes]
rs250726	0.82[ASN][1000 genomes]
rs250727	0.82[ASN][1000 genomes]
rs250729	0.81[ASN][1000 genomes]
rs250757	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250759	0.87[ASN][1000 genomes]
rs253086	0.84[ASN][1000 genomes]
rs2607351	0.96[EUR][1000 genomes]
rs458591	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs466336	0.83[EUR][1000 genomes]
rs515362	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv965590	chr5:76061083-76081416	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2562514	F2R	cis	Muscle Skeletal	GTEx
rs2562514	F2RL1	cis	Esophagus Mucosa	GTEx
rs2562514	F2RL1	cis	Whole Blood	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76070600-76080600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:76074000-76078400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:76075000-76077600	Weak transcription	A549	lung
4	chr5:76075400-76079800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:76075400-76080200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:76075600-76077600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:76075600-76084200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:76075800-76079400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:76075800-76079600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:76075800-76079800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:76076000-76077200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:76076000-76077200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:76076000-76077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:76076000-76079600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:76076000-76079800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:76076000-76083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:76076000-76084200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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