Variant report

Variant	rs500457
Chromosome Location	chr6:70960327-70960328
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	chr6:70958791..70960386-chr6:70962479..70964793,2	K562	blood:

Variant related genes	Relation type
ENSG00000112280	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1135056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs113979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1200579	0.89[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1200580	0.88[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12191701	0.81[CEU][hapmap]
rs12195968	0.82[CEU][hapmap]
rs12209857	0.82[CEU][hapmap]
rs1753208	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2024730	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2176356	0.82[CEU][hapmap]
rs2182999	0.87[AMR][1000 genomes]
rs2274586	0.96[ASN][1000 genomes]
rs506908	0.84[AMR][1000 genomes]
rs507676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs516166	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs519068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528080	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs534258	0.84[AMR][1000 genomes]
rs535308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs538588	0.80[AMR][1000 genomes]
rs544179	0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs546628	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs550675	0.96[CEU][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs555663	0.82[AMR][1000 genomes]
rs558181	0.82[AMR][1000 genomes]
rs590656	0.82[AMR][1000 genomes]
rs604896	0.89[JPT][hapmap]
rs657572	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6932776	0.82[CEU][hapmap]
rs701686	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs701689	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs701690	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs701693	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr6:70931400-70961400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:70952200-70964600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:70952200-70980400	Weak transcription	Fetal Stomach	stomach
4	chr6:70952200-70990000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:70952600-70966600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:70952600-70980400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:70952800-70989800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:70955200-70971000	Weak transcription	Fetal Kidney	kidney
9	chr6:70960200-70960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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