Variant report

Variant	rs302147
Chromosome Location	chr7:18285373-18285374
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	chr7:18283780..18285456-chr7:18285459..18288294,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1007192	0.84[ASN][1000 genomes]
rs10265242	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281630	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs109251	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs111978	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11769668	1.00[JPT][hapmap];0.85[AFR][1000 genomes]
rs1178311	0.87[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1178313	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1178314	0.92[ASN][1000 genomes]
rs1178315	0.94[ASN][1000 genomes]
rs1178316	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1178331	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs122617	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13227027	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes]
rs13232015	1.00[JPT][hapmap];0.82[AFR][1000 genomes]
rs1431334	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17138794	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17138914	1.00[JPT][hapmap]
rs17418362	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1919317	0.84[ASN][1000 genomes]
rs2005774	0.85[ASN][1000 genomes]
rs2567209	0.83[ASN][1000 genomes]
rs2731554	0.88[ASN][1000 genomes]
rs302140	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs302141	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs302148	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs302153	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs302155	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs302162	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs302164	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs302165	0.84[AFR][1000 genomes]
rs302168	0.84[AFR][1000 genomes]
rs302173	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs302176	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34060940	0.85[AFR][1000 genomes]
rs34461394	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35307869	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35676223	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs366909	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs436270	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55744175	0.85[AFR][1000 genomes]
rs623532	1.00[JPT][hapmap]
rs624811	1.00[JPT][hapmap]
rs647270	1.00[JPT][hapmap]
rs679492	1.00[JPT][hapmap]
rs680882	1.00[JPT][hapmap]
rs73062451	0.81[ASN][1000 genomes]
rs758089	0.85[ASN][1000 genomes]
rs917329	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18285200-18286200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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