Variant report

Variant	rs62066115
Chromosome Location	chr17:17203166-17203167
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	chr17:17184001..17186220-chr17:17199204..17203201,3	K562	blood:

Variant related genes	Relation type
ENSG00000141030	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12451886	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041393	0.95[ASN][1000 genomes]
rs62066114	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7207856	0.95[ASN][1000 genomes]
rs7217114	0.85[ASN][1000 genomes]
rs7217162	0.81[ASN][1000 genomes]
rs9895057	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9899615	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9907528	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9907711	0.80[ASN][1000 genomes]
rs9907857	0.80[ASN][1000 genomes]
rs9908209	0.84[AFR][1000 genomes]
rs9908807	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9909032	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9909111	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17199800-17203800	Weak transcription	Fetal Muscle Leg	muscle
2	chr17:17200000-17203400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:17200000-17203600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr17:17200000-17203600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:17200400-17203400	Weak transcription	A549	lung
6	chr17:17200400-17204200	Weak transcription	HMEC	breast
7	chr17:17200400-17206000	Weak transcription	NHEK	skin
8	chr17:17200600-17203600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:17201200-17203400	Weak transcription	Fetal Brain Male	brain
10	chr17:17201200-17203800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:17201400-17203800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:17201600-17204200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:17201800-17203800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:17201800-17204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:17202000-17204000	Weak transcription	NHLF	lung
16	chr17:17202000-17206400	Weak transcription	HSMM	muscle
17	chr17:17202200-17203600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:17202200-17203600	Weak transcription	NHDF-Ad	bronchial
19	chr17:17202200-17203600	Weak transcription	Osteobl	bone
20	chr17:17202200-17203800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:17202200-17203800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:17202200-17203800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:17202200-17204200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:17202400-17203600	Weak transcription	GM12878-XiMat	blood
25	chr17:17203000-17203200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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