Variant report

Variant	rs58174575
Chromosome Location	chr2:183107321-183107322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:183107245-183107728	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr2:183107291-183107585	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:183107018-183107332	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183103040..183104711-chr2:183106820..183108898,2	K562	blood:

Variant related genes	Relation type
PDE1A	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1196060	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1196064	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12053027	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1438074	0.83[ASN][1000 genomes]
rs1549870	0.95[ASN][1000 genomes]
rs16822799	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16822892	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16822961	0.97[ASN][1000 genomes]
rs2368280	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28420082	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769779	0.85[ASN][1000 genomes]
rs3769789	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769794	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769796	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769797	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769802	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769806	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769811	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56869577	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57207106	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57524661	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57936173	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58517019	0.86[ASN][1000 genomes]
rs60217954	0.85[ASN][1000 genomes]
rs60701525	0.85[ASN][1000 genomes]
rs61138620	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6734150	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72897058	0.86[ASN][1000 genomes]
rs73975384	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73975390	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73975402	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7588289	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7606819	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs833158	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183104600-183112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:183105000-183109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:183105000-183110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183105800-183107600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:183105800-183107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:183105800-183107600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:183105800-183107800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:183106200-183107800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:183106200-183109600	Weak transcription	Right Ventricle	heart
10	chr2:183106400-183138400	Weak transcription	Aorta	Aorta
11	chr2:183106600-183107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:183107000-183107400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:183107000-183107800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:183107200-183108200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:183107200-183108200	Enhancers	Fetal Brain Male	brain
16	chr2:183107200-183109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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