Variant report

Variant	rs57612395
Chromosome Location	chr9:100502734-100502735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100501560..100504087-chr9:100522833..100525239,2	K562	blood:
2	chr9:100501919..100504802-chr9:100515954..100517460,2	K562	blood:
3	chr9:100496207..100499449-chr9:100501174..100504756,3	MCF-7	breast:
4	chr9:100502255..100504142-chr9:100516213..100518800,2	MCF-7	breast:
5	chr9:100457984..100460168-chr9:100502193..100505090,2	MCF-7	breast:
6	chr9:100501080..100504475-chr9:100513042..100515549,3	K562	blood:

Variant related genes	Relation type
ENSG00000136936	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10119687	0.88[ASN][1000 genomes]
rs10123546	0.97[ASN][1000 genomes]
rs10982836	0.83[AFR][1000 genomes]
rs10983424	0.92[ASN][1000 genomes]
rs10983428	0.92[ASN][1000 genomes]
rs1126122	0.89[AFR][1000 genomes]
rs12347253	0.88[ASN][1000 genomes]
rs12350221	0.92[ASN][1000 genomes]
rs12350946	0.92[ASN][1000 genomes]
rs16923677	0.85[ASN][1000 genomes]
rs16923815	0.92[ASN][1000 genomes]
rs2297157	0.96[AMR][1000 genomes]
rs28376250	0.92[ASN][1000 genomes]
rs3176627	0.89[AFR][1000 genomes]
rs3176642	0.96[AMR][1000 genomes]
rs3176645	0.96[AMR][1000 genomes]
rs3176654	0.96[AMR][1000 genomes]
rs3176665	0.96[AMR][1000 genomes]
rs3176673	0.96[AMR][1000 genomes]
rs3176677	0.89[AFR][1000 genomes]
rs3176692	0.89[AFR][1000 genomes]
rs3176695	0.89[AFR][1000 genomes]
rs3176700	0.96[AMR][1000 genomes]
rs3176703	0.96[AMR][1000 genomes]
rs3176717	0.89[AFR][1000 genomes]
rs3176721	0.96[AMR][1000 genomes]
rs3176728	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3176734	0.96[AMR][1000 genomes]
rs3176739	0.96[AMR][1000 genomes]
rs3176752	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3176758	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs3176759	0.96[AMR][1000 genomes]
rs35251482	0.89[AFR][1000 genomes]
rs3824494	0.94[AFR][1000 genomes]
rs4480232	0.88[ASN][1000 genomes]
rs55900941	0.89[AFR][1000 genomes]
rs56023926	0.89[AFR][1000 genomes]
rs56164437	0.89[AFR][1000 genomes]
rs56412432	0.89[AFR][1000 genomes]
rs57940370	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs58272409	0.89[AFR][1000 genomes]
rs59782843	0.89[AFR][1000 genomes]
rs59945109	0.89[AFR][1000 genomes]
rs60197625	0.94[AFR][1000 genomes]
rs60353451	0.89[AFR][1000 genomes]
rs60359353	0.89[AFR][1000 genomes]
rs60779859	1.00[AFR][1000 genomes]
rs61010519	0.89[AFR][1000 genomes]
rs61047578	0.92[ASN][1000 genomes]
rs61152667	0.89[AFR][1000 genomes]
rs73484437	1.00[AFR][1000 genomes]
rs73484439	1.00[AFR][1000 genomes]
rs73498320	0.89[AFR][1000 genomes]
rs73498331	0.89[AFR][1000 genomes]
rs73498342	0.89[AFR][1000 genomes]
rs73498350	0.89[AFR][1000 genomes]
rs73498374	0.89[AFR][1000 genomes]
rs73498394	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73498399	0.89[AFR][1000 genomes]
rs73498401	0.89[AFR][1000 genomes]
rs73500372	0.89[AFR][1000 genomes]
rs73502207	0.83[AFR][1000 genomes]
rs73502218	0.89[AFR][1000 genomes]
rs73551083	0.89[AFR][1000 genomes]
rs73552526	0.94[AFR][1000 genomes]
rs73554626	0.89[AFR][1000 genomes]
rs73554629	0.89[AFR][1000 genomes]
rs73554645	0.89[AFR][1000 genomes]
rs73554654	0.89[AFR][1000 genomes]
rs73655154	0.89[AFR][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	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv614934	chr9:100482976-100550253	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100491000-100503200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:100492800-100503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:100493000-100503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:100500200-100503000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:100500400-100503000	Weak transcription	K562	blood
6	chr9:100501400-100503400	Enhancers	Esophagus	oesophagus
7	chr9:100502200-100503200	Weak transcription	Gastric	stomach
8	chr9:100502400-100503000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr9:100502600-100503200	Enhancers	Fetal Intestine Large	intestine
10	chr9:100502600-100503200	Enhancers	Fetal Intestine Small	intestine

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