Variant report

Variant	rs2242070
Chromosome Location	chr2:183706855-183706856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183706094..183709034-chr2:183715040..183717717,2	K562	blood:
2	chr2:183705476..183706982-chr2:183723282..183724982,2	K562	blood:
3	chr2:183706383..183709007-chr2:183718084..183719976,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10202627	0.82[CHB][hapmap]
rs10206992	0.89[EUR][1000 genomes]
rs10803961	0.86[ASN][1000 genomes]
rs10931042	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931044	0.85[ASN][1000 genomes]
rs10931045	0.87[ASN][1000 genomes]
rs10931046	0.87[ASN][1000 genomes]
rs10931049	0.82[CHB][hapmap]
rs11900716	0.81[CHB][hapmap]
rs12469777	0.82[CHB][hapmap]
rs12473127	0.87[ASN][1000 genomes]
rs12476544	0.91[ASN][1000 genomes]
rs12476897	0.87[ASN][1000 genomes]
rs12611837	0.88[ASN][1000 genomes]
rs12992123	0.84[ASN][1000 genomes]
rs13026760	0.86[ASN][1000 genomes]
rs1584734	0.87[ASN][1000 genomes]
rs2100344	0.87[ASN][1000 genomes]
rs2118590	0.87[ASN][1000 genomes]
rs21714	0.90[ASN][1000 genomes]
rs28796879	0.82[EUR][1000 genomes]
rs288247	0.90[ASN][1000 genomes]
rs288248	0.90[ASN][1000 genomes]
rs288249	0.89[ASN][1000 genomes]
rs288330	0.89[ASN][1000 genomes]
rs2887227	0.87[ASN][1000 genomes]
rs34528848	0.85[ASN][1000 genomes]
rs3768842	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs409238	0.86[ASN][1000 genomes]
rs4293535	0.82[ASN][1000 genomes]
rs430350	0.87[ASN][1000 genomes]
rs4338928	0.87[ASN][1000 genomes]
rs4581857	0.82[CHB][hapmap]
rs55899538	0.85[ASN][1000 genomes]
rs59146529	0.85[ASN][1000 genomes]
rs6433991	0.87[ASN][1000 genomes]
rs6433992	0.86[ASN][1000 genomes]
rs6433994	0.84[ASN][1000 genomes]
rs722738	0.90[ASN][1000 genomes]
rs7605198	0.88[ASN][1000 genomes]
rs825529	0.83[ASN][1000 genomes]
rs9288087	0.88[EUR][1000 genomes]
rs9973853	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2242070	FRZB	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183689800-183719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:183702400-183711200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:183702600-183716800	Weak transcription	HSMMtube	muscle
4	chr2:183704000-183710000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:183705000-183710400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:183705000-183716600	Weak transcription	Aorta	Aorta
7	chr2:183705200-183710400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:183705600-183710400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:183706400-183707800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:183706600-183707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:183706800-183707200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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