Variant report

Variant	rs6717648
Chromosome Location	chr2:67939688-67939689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67939107..67941083-chr2:67942723..67945328,2	MCF-7	breast:
2	chr2:67934173..67935685-chr2:67939540..67941809,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10165761	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10179159	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10188512	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191089	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10193810	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10194001	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10203976	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10203980	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13390163	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13405830	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13417798	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13430868	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1367458	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1430773	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549779	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1549780	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1549781	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1978657	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671829	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4671831	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671832	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671833	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4671834	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671835	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671837	0.84[EUR][1000 genomes]
rs4671838	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62155370	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62155371	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62155409	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62155412	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs724566	0.82[ASN][1000 genomes]
rs724567	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737359	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7564631	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs966441	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs966443	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs974482	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67939000-67940000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:67939200-67939800	Active TSS	Brain Hippocampus Middle	brain
3	chr2:67939200-67940400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:67939200-67940400	Enhancers	Fetal Lung	lung
5	chr2:67939200-67940600	Enhancers	Fetal Stomach	stomach
6	chr2:67939400-67939800	Active TSS	Brain Substantia Nigra	brain
7	chr2:67939400-67939800	Enhancers	Gastric	stomach
8	chr2:67939400-67939800	Active TSS	NHLF	lung
9	chr2:67939400-67940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:67939600-67939800	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr2:67939600-67940000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:67939600-67940000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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