Variant report

Variant	rs9497049
Chromosome Location	chr6:100742622-100742623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:100737311..100740574-chr6:100740600..100744318,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10499029	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333216	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1506087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1506088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2073264	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2841307	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2939370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3934920	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4131342	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4131343	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4140483	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840123	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4840124	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55767814	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55954654	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56161817	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57860838	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58379285	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59163052	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60804634	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61068331	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66584467	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66847347	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67008407	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67084053	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67330180	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67533394	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67868935	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6915041	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6933195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72946044	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72948044	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72948046	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761708	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs761709	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9321981	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9321985	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9484892	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9496859	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9496865	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9496882	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9496960	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9496988	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9497034	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497036	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497041	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9497096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030316	chr6:100733205-100759678	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100731600-100744200	Weak transcription	NHDF-Ad	bronchial
2	chr6:100732000-100744200	Weak transcription	NHLF	lung
3	chr6:100739400-100749600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:100739800-100744200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:100741000-100749600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:100741200-100744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:100741400-100742800	Enhancers	A549	lung
8	chr6:100741400-100744600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:100741600-100742800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:100741600-100743000	Enhancers	HUVEC	blood vessel
11	chr6:100741600-100744200	Enhancers	Hela-S3	cervix
12	chr6:100741800-100742800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:100742200-100744200	Weak transcription	Osteobl	bone
14	chr6:100742400-100743800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:100742400-100744200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:100742400-100744600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:100742600-100744200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:100742600-100744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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