Variant report

Variant	rs12660323
Chromosome Location	chr6:38272651-38272652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38269604..38272894-chr6:38272996..38276303,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10484927	1.00[TSI][hapmap]
rs10484930	0.81[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10484931	0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12055513	0.82[CHD][hapmap]
rs12173290	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12524225	0.82[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12527432	0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs12529549	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12664994	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16890552	0.91[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16890561	0.86[CHD][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs4711531	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs4711532	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4714139	0.87[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs4714141	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4714145	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs57012325	0.96[ASN][1000 genomes]
rs57934228	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59624393	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60500173	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917308	0.81[JPT][hapmap]
rs6938840	0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs714930	0.81[ASN][1000 genomes]
rs73422824	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73422833	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73730927	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73730928	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7771835	0.80[ASN][1000 genomes]
rs871182	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs871184	0.91[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296243	0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs9349065	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9366951	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9366952	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9366956	0.84[CHD][hapmap];1.00[TSI][hapmap]
rs9369044	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9369045	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9369046	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369047	0.91[CHD][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380728	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs9380729	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9380730	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9380731	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9380732	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9380733	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9380734	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9380738	1.00[TSI][hapmap]
rs9380744	1.00[TSI][hapmap]
rs9394483	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9394485	0.92[ASN][1000 genomes]
rs9394487	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9394490	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394491	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394496	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38249200-38275600	Weak transcription	Fetal Brain Male	brain
2	chr6:38267400-38274000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:38270200-38275400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:38270800-38274000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:38270800-38275600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:38271000-38275000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:38271200-38275600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:38271400-38274600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:38272600-38273600	Enhancers	GM12878-XiMat	blood

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