Variant report

Variant	rs4662232
Chromosome Location	chr2:145554379-145554380
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145272423..145275360-chr2:145553011..145555773,2	K562	blood:
2	chr2:145552624..145554634-chr2:145555270..145557334,2	K562	blood:
3	chr2:145551347..145554493-chr2:145556641..145558720,3	K562	blood:
4	chr2:145547712..145551246-chr2:145553531..145557296,5	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10200647	0.88[ASN][1000 genomes]
rs10203655	0.88[ASN][1000 genomes]
rs10432351	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496966	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10803510	0.83[JPT][hapmap]
rs10928225	0.88[ASN][1000 genomes]
rs10928226	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10928227	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11674690	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679253	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11883829	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs11900456	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11902294	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs12104619	0.83[ASN][1000 genomes]
rs12471698	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478142	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12611966	0.98[ASN][1000 genomes]
rs12623452	0.92[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs12991932	0.87[ASN][1000 genomes]
rs12997597	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13003467	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13008442	0.84[ASN][1000 genomes]
rs13015001	0.94[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13016064	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13032840	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13413613	0.95[ASN][1000 genomes]
rs1346344	0.83[JPT][hapmap]
rs1351734	0.88[ASN][1000 genomes]
rs1365902	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1365905	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1384779	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1384783	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1427500	0.83[JPT][hapmap]
rs1427507	0.83[JPT][hapmap]
rs1427509	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1483491	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483499	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1529386	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1529387	0.81[ASN][1000 genomes]
rs1559961	0.82[ASN][1000 genomes]
rs1559962	0.82[ASN][1000 genomes]
rs1564697	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1896453	0.83[ASN][1000 genomes]
rs1896454	0.85[ASN][1000 genomes]
rs1905347	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994155	0.98[ASN][1000 genomes]
rs2086748	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2162571	0.83[JPT][hapmap]
rs2195114	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2195115	0.84[ASN][1000 genomes]
rs2254435	0.87[ASN][1000 genomes]
rs2381651	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35099259	0.92[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap]
rs3856364	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4458150	0.82[ASN][1000 genomes]
rs4471836	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4662231	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4662393	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6707047	0.89[ASN][1000 genomes]
rs6728198	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6745079	0.83[ASN][1000 genomes]
rs7575857	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7579453	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7580571	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs900554	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs958500	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs958501	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs980772	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs990847	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]

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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145546400-145559400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145550400-145559600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:145550600-145559600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:145553600-145554400	Enhancers	Ovary	ovary
5	chr2:145553600-145555000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:145553600-145555600	Enhancers	Fetal Lung	lung
7	chr2:145553800-145554400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:145553800-145554400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:145553800-145554400	Active TSS	Fetal Kidney	kidney
10	chr2:145553800-145554800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:145554000-145554800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:145554000-145554800	Active TSS	Right Atrium	heart
13	chr2:145554000-145555600	Enhancers	Fetal Stomach	stomach
14	chr2:145554000-145556000	Enhancers	K562	blood
15	chr2:145554200-145554400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:145554200-145554400	Active TSS	Brain Anterior Caudate	brain
17	chr2:145554200-145559400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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