Variant report

Variant	rs7222838
Chromosome Location	chr17:67004072-67004073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10512522	1.00[CHD][hapmap]
rs12103695	1.00[CHD][hapmap]
rs12103819	1.00[EUR][1000 genomes]
rs1541469	1.00[CHD][hapmap]
rs16973430	1.00[MEX][hapmap]
rs16973446	1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16973452	1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16973503	0.95[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1807406	1.00[EUR][1000 genomes]
rs1984722	1.00[CHD][hapmap]
rs28439676	1.00[EUR][1000 genomes]
rs28443178	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28450507	1.00[EUR][1000 genomes]
rs28490038	1.00[EUR][1000 genomes]
rs4419114	1.00[EUR][1000 genomes]
rs60216404	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217379	0.83[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221250	1.00[CHD][hapmap]
rs8070045	1.00[EUR][1000 genomes]
rs8070147	1.00[CHD][hapmap]
rs8076776	1.00[EUR][1000 genomes]
rs8076973	1.00[EUR][1000 genomes]
rs9303000	1.00[EUR][1000 genomes]
rs9303001	1.00[EUR][1000 genomes]
rs960929	1.00[EUR][1000 genomes]
rs9892575	1.00[EUR][1000 genomes]
rs9893173	1.00[CHD][hapmap]
rs9893247	1.00[EUR][1000 genomes]
rs9893792	1.00[EUR][1000 genomes]
rs9894190	1.00[EUR][1000 genomes]
rs9894209	1.00[EUR][1000 genomes]
rs9894350	0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896584	0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898739	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899818	1.00[CHD][hapmap]
rs9900030	1.00[EUR][1000 genomes]
rs9910875	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911906	1.00[EUR][1000 genomes]
rs9915531	1.00[CHD][hapmap]

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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:66979400-67005400	Weak transcription	Psoas Muscle	Psoas
3	chr17:66980400-67009400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:66989600-67004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:66989800-67011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:67000000-67007400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
8	chr17:67001200-67006000	Strong transcription	Liver	Liver
9	chr17:67001200-67009400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:67001200-67014600	Strong transcription	Adipose Nuclei	Adipose
11	chr17:67001400-67005800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:67001600-67009600	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:67001800-67004600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:67001800-67010800	Weak transcription	Left Ventricle	heart
15	chr17:67002400-67013200	Weak transcription	Fetal Lung	lung
16	chr17:67003400-67004200	Weak transcription	Ovary	ovary
17	chr17:67003800-67030600	Weak transcription	Brain Angular Gyrus	brain
18	chr17:67004000-67023400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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