Variant report

Variant	rs6741105
Chromosome Location	chr2:183107638-183107639
allele	C/T
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	USF1	chr2:183107398-183107657	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr2:183107442-183107679	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr2:183107471-183107761	H1-hESC	embryonic stem cell:	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: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10201929	0.87[ASN][1000 genomes]
rs10930994	0.87[ASN][1000 genomes]
rs13034133	0.87[ASN][1000 genomes]
rs1347079	0.85[ASN][1000 genomes]
rs1432517	0.87[ASN][1000 genomes]
rs1432518	0.85[ASN][1000 genomes]
rs1432519	0.81[ASN][1000 genomes]
rs1432520	0.85[ASN][1000 genomes]
rs1432521	0.85[ASN][1000 genomes]
rs1432533	0.85[ASN][1000 genomes]
rs1594614	0.87[ASN][1000 genomes]
rs1835880	0.87[ASN][1000 genomes]
rs1835881	0.84[ASN][1000 genomes]
rs1864847	0.85[ASN][1000 genomes]
rs1864848	0.87[ASN][1000 genomes]
rs1864849	0.87[ASN][1000 genomes]
rs1864850	0.87[ASN][1000 genomes]
rs1864851	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1864852	0.87[ASN][1000 genomes]
rs1864854	0.86[ASN][1000 genomes]
rs1988750	0.84[ASN][1000 genomes]
rs2116636	0.83[ASN][1000 genomes]
rs2128045	0.87[ASN][1000 genomes]
rs2128046	0.85[ASN][1000 genomes]
rs2128047	0.84[ASN][1000 genomes]
rs2170402	0.87[ASN][1000 genomes]
rs2170403	0.85[ASN][1000 genomes]
rs2217614	0.85[ASN][1000 genomes]
rs2368276	0.85[ASN][1000 genomes]
rs2568660	0.84[ASN][1000 genomes]
rs2568661	0.85[ASN][1000 genomes]
rs2568663	0.85[ASN][1000 genomes]
rs2568664	0.87[ASN][1000 genomes]
rs2568667	0.87[ASN][1000 genomes]
rs2568670	0.83[ASN][1000 genomes]
rs2568672	0.87[ASN][1000 genomes]
rs2568673	0.85[ASN][1000 genomes]
rs2568674	0.87[ASN][1000 genomes]
rs2568676	0.84[ASN][1000 genomes]
rs2568682	0.87[ASN][1000 genomes]
rs2568687	0.84[ASN][1000 genomes]
rs2623418	0.84[ASN][1000 genomes]
rs2623422	0.85[ASN][1000 genomes]
rs2623423	0.85[ASN][1000 genomes]
rs2623435	0.87[ASN][1000 genomes]
rs2623437	0.87[ASN][1000 genomes]
rs3754929	0.85[ASN][1000 genomes]
rs4503956	0.85[ASN][1000 genomes]
rs6740401	0.81[ASN][1000 genomes]
rs711808	0.80[ASN][1000 genomes]
rs753289	0.80[ASN][1000 genomes]
rs7571503	0.87[ASN][1000 genomes]
rs833135	0.82[ASN][1000 genomes]
rs833140	0.82[ASN][1000 genomes]
rs833156	0.83[ASN][1000 genomes]
rs964757	0.84[ASN][1000 genomes]
rs964758	0.86[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:13 , 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	chr2:183105800-183107800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:183106200-183107800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:183106200-183109600	Weak transcription	Right Ventricle	heart
7	chr2:183106400-183138400	Weak transcription	Aorta	Aorta
8	chr2:183107000-183107800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:183107200-183108200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:183107200-183108200	Enhancers	Fetal Brain Male	brain
11	chr2:183107200-183109200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:183107400-183107800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:183107600-183107800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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