Variant report

Variant	rs4652523
Chromosome Location	chr1:180588363-180588364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180583705..180586164-chr1:180587537..180589337,2	K562	blood:
2	chr1:180578726..180581333-chr1:180585723..180589157,4	K562	blood:
3	chr1:180581736..180587616-chr1:180588288..180595360,13	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10494532	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap]
rs10798788	1.00[CHB][hapmap]
rs10914057	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10914074	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap]
rs10914076	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap]
rs10914077	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap]
rs10914080	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[MEX][hapmap]
rs10914083	1.00[CHB][hapmap]
rs10914084	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10914095	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs10914107	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10914111	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11585146	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs12120511	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs12121436	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[MEX][hapmap]
rs12142163	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap]
rs12143915	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs12725006	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[MEX][hapmap]
rs12734308	0.85[AMR][1000 genomes]
rs1554183	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs1554185	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap]
rs17373584	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap]
rs2877438	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs2944261	1.00[CHB][hapmap]
rs3002118	1.00[CHB][hapmap]
rs3002119	1.00[CHB][hapmap]
rs3761904	0.88[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap]
rs3789373	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap]
rs3842895	0.85[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3856059	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4652525	1.00[CHB][hapmap]
rs4652526	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4652527	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4652528	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4652529	1.00[CHB][hapmap]
rs6661325	0.85[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs6661417	0.84[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];0.81[MEX][hapmap]
rs6676219	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs6677681	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs7544774	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.86[MEX][hapmap]
rs7546227	1.00[CHB][hapmap]
rs7546516	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs7548671	1.00[CHB][hapmap]
rs7555356	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs7556592	1.00[CHB][hapmap]
rs9919167	1.00[CHB][hapmap];0.87[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180581800-180600600	Weak transcription	Fetal Heart	heart
2	chr1:180586000-180589400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:180586000-180589600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:180586000-180590000	Weak transcription	Osteobl	bone
5	chr1:180586800-180594400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180587400-180592800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:180587600-180590200	Weak transcription	Fetal Lung	lung
8	chr1:180587600-180590600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:180587600-180593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:180588000-180589600	Weak transcription	K562	blood

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