Variant report

Variant	rs72948112
Chromosome Location	chr6:73261499-73261500
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	chr6:73256563..73258779-chr6:73261159..73263806,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1328854	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16882514	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6453587	0.95[EUR][1000 genomes]
rs72939316	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72939331	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72939337	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72939341	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72946163	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72946166	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72946175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72946188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946200	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948110	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948122	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72948134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950036	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950038	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr6:73252200-73262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73257000-73264800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:73259000-73263400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:73260000-73262800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:73261000-73261600	Weak transcription	Pancreas	Pancrea
6	chr6:73261000-73262400	Enhancers	NHEK	skin
7	chr6:73261000-73265200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:73261000-73266000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:73261200-73261800	Enhancers	Osteobl	bone
10	chr6:73261200-73262000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:73261200-73262600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:73261200-73265800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:73261400-73261800	Enhancers	HSMM	muscle
14	chr6:73261400-73262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:73261400-73262400	Weak transcription	NH-A	brain
16	chr6:73261400-73262600	Enhancers	K562	blood

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