Variant report

Variant	rs9372248
Chromosome Location	chr6:110389926-110389927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11153226	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11751590	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11757055	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs12110744	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12660119	0.85[ASN][1000 genomes]
rs12660791	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12665858	0.81[ASN][1000 genomes]
rs1462490	0.95[ASN][1000 genomes]
rs1462492	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1462493	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2002630	0.86[ASN][1000 genomes]
rs4257894	0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4299857	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4339500	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4509164	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4945850	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4945851	0.84[CHD][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs4947048	0.82[ASN][1000 genomes]
rs4947051	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4947058	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs56122480	0.84[ASN][1000 genomes]
rs56135788	0.83[ASN][1000 genomes]
rs56287427	0.82[ASN][1000 genomes]
rs60495849	0.86[ASN][1000 genomes]
rs61020234	0.86[ASN][1000 genomes]
rs6568633	0.80[ASN][1000 genomes]
rs6568634	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs6912291	0.94[ASN][1000 genomes]
rs6913554	0.91[CHD][hapmap]
rs6915379	0.86[ASN][1000 genomes]
rs6918148	0.84[CHD][hapmap];0.92[JPT][hapmap]
rs6925392	0.87[ASN][1000 genomes]
rs6926540	0.80[ASN][1000 genomes]
rs6927667	0.82[ASN][1000 genomes]
rs6927697	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6927722	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6928684	0.80[ASN][1000 genomes]
rs6938106	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6938139	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6938653	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs719849	0.83[ASN][1000 genomes]
rs73533834	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73535810	0.86[ASN][1000 genomes]
rs73535817	0.84[ASN][1000 genomes]
rs73535821	0.84[ASN][1000 genomes]
rs73535837	0.82[ASN][1000 genomes]
rs73535838	0.82[ASN][1000 genomes]
rs7744828	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7747842	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372247	0.98[ASN][1000 genomes]
rs9374156	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9400359	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9400360	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9481047	1.00[JPT][hapmap]
rs9481048	1.00[JPT][hapmap]
rs9487318	1.00[JPT][hapmap]
rs9487319	1.00[JPT][hapmap]
rs9487321	1.00[JPT][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	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1017551	chr6:110385054-110413225	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1023185	chr6:110386197-110416868	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1029169	chr6:110389869-110413225	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr6:110383200-110391000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:110385200-110391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:110387800-110391600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:110388400-110391400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr6:110388600-110390200	Enhancers	Fetal Heart	heart
6	chr6:110389000-110390000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:110389200-110391400	Enhancers	Brain Hippocampus Middle	brain
8	chr6:110389400-110390000	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:110389400-110390200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:110389600-110390600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:110389600-110390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:110389600-110391200	Enhancers	Brain Anterior Caudate	brain
13	chr6:110389800-110390000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:110389800-110390000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:110389800-110390200	Enhancers	Lung	lung
16	chr6:110389800-110391200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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