Variant report

Variant	rs74001839
Chromosome Location	chr17:67177288-67177289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67176730..67179192-chr17:67186322..67188052,2	K562	blood:
2	chr17:67176922..67179514-chr17:67180251..67183069,4	K562	blood:
3	chr17:67171044..67172569-chr17:67176750..67178997,2	K562	blood:

Variant related genes	Relation type
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28369611	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7216224	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7225418	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73356160	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9889477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9893596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899297	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9901774	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9907954	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457888	chr17:67149973-67226643	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv575931	chr17:67149973-67226643	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
8	nsv575933	chr17:67153386-67215712	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67138800-67182000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
3	chr17:67148800-67190200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:67150800-67192400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:67150800-67193200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr17:67151600-67178000	Weak transcription	Liver	Liver
7	chr17:67160600-67220000	Weak transcription	Fetal Lung	lung
8	chr17:67163400-67181200	Weak transcription	Left Ventricle	heart
9	chr17:67172200-67182800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:67172400-67191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:67172800-67178000	Weak transcription	Adipose Nuclei	Adipose
12	chr17:67173200-67193000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
14	chr17:67175800-67181800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:67176000-67179400	Weak transcription	Ovary	ovary
16	chr17:67176000-67180000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:67176000-67183200	Weak transcription	K562	blood
18	chr17:67176000-67190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:67176200-67179800	Weak transcription	Fetal Intestine Small	intestine
20	chr17:67176600-67179400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:67176600-67193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:67176800-67177800	Enhancers	Fetal Intestine Large	intestine

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