Variant report

Variant	rs12597418
Chromosome Location	chr16:71855220-71855221
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	chr16:71847353..71849880-chr16:71853072..71855463,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10459804	0.82[EUR][1000 genomes]
rs10459805	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11075902	0.82[EUR][1000 genomes]
rs11640725	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12447856	0.80[EUR][1000 genomes]
rs12598902	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12600153	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12600163	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12920243	0.81[EUR][1000 genomes]
rs12930206	0.80[EUR][1000 genomes]
rs13332113	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1392483	0.82[EUR][1000 genomes]
rs1834033	0.82[EUR][1000 genomes]
rs2291947	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28704189	0.83[EUR][1000 genomes]
rs34111614	0.81[EUR][1000 genomes]
rs3848389	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4538017	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4788448	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4788558	0.83[EUR][1000 genomes]
rs4788567	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4788572	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4788574	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4788578	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56309616	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60740701	0.82[EUR][1000 genomes]
rs7185997	0.80[EUR][1000 genomes]
rs7350856	0.81[EUR][1000 genomes]
rs7404381	0.81[EUR][1000 genomes]
rs8060867	0.81[EUR][1000 genomes]
rs8062441	0.81[EUR][1000 genomes]
rs8062477	0.82[EUR][1000 genomes]
rs951939	0.82[EUR][1000 genomes]
rs9922054	0.82[EUR][1000 genomes]
rs9925069	0.83[EUR][1000 genomes]
rs9925441	0.81[EUR][1000 genomes]
rs9931717	0.82[EUR][1000 genomes]
rs9936965	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9937626	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9939455	0.80[EUR][1000 genomes]
rs9940990	0.81[EUR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71843800-71855400	Weak transcription	Primary T cells from cord blood	blood
2	chr16:71843800-71861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:71844000-71859400	Weak transcription	Fetal Intestine Small	intestine
4	chr16:71844200-71862200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr16:71844800-71862000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr16:71851000-71859600	Weak transcription	K562	blood
7	chr16:71851000-71860400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:71851200-71862200	Weak transcription	Fetal Stomach	stomach
9	chr16:71851200-71866400	Weak transcription	HSMMtube	muscle
10	chr16:71852200-71859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:71852200-71861600	Weak transcription	Esophagus	oesophagus
12	chr16:71852200-71861800	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:71852200-71861800	Weak transcription	HSMM	muscle
14	chr16:71852200-71866000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:71852400-71863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:71852600-71858000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:71852800-71855600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:71852800-71864000	Weak transcription	Osteobl	bone
19	chr16:71853200-71860200	Weak transcription	GM12878-XiMat	blood
20	chr16:71854800-71861200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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