Variant report

Variant	rs12617534
Chromosome Location	chr2:11563035-11563036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11561066..11563173-chr2:11602623..11605279,2	MCF-7	breast:
2	chr2:11561641..11563474-chr2:11604284..11606432,2	K562	blood:
3	chr2:11560712..11564441-chr2:11679547..11682198,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169016	Chromatin interaction
ENSG00000269074	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000264010	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10186511	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10929736	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929737	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929739	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929740	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10929742	0.84[EUR][1000 genomes]
rs11674593	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680919	0.82[EUR][1000 genomes]
rs11682602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11686138	0.87[EUR][1000 genomes]
rs11687178	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11687681	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11691211	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693023	0.85[EUR][1000 genomes]
rs11694857	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12472962	0.87[EUR][1000 genomes]
rs12611958	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12612948	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615138	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12615317	0.85[EUR][1000 genomes]
rs12990560	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994661	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12995996	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34079430	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34313955	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34514099	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35053846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35090349	0.84[AMR][1000 genomes]
rs35423645	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35727311	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3922995	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4292073	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4335920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4553788	0.87[EUR][1000 genomes]
rs4588159	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637076	0.84[AMR][1000 genomes]
rs57197575	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61016299	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6432192	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432193	0.87[EUR][1000 genomes]
rs6432196	0.84[EUR][1000 genomes]
rs6708001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729114	0.86[EUR][1000 genomes]
rs6735687	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6735707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6736082	0.82[ASN][1000 genomes]
rs6736199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6743597	0.82[ASN][1000 genomes]
rs6750266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6750499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751915	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7556984	0.83[EUR][1000 genomes]
rs7584175	0.82[EUR][1000 genomes]
rs7595697	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789694	0.87[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
2	chr2:11560400-11584000	Weak transcription	Aorta	Aorta
3	chr2:11560600-11563600	Enhancers	Ovary	ovary
4	chr2:11560600-11576800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:11561200-11571000	Weak transcription	HSMMtube	muscle
6	chr2:11561200-11579200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:11561600-11575400	Weak transcription	Fetal Heart	heart
8	chr2:11562200-11563800	Flanking Active TSS	HepG2	liver
9	chr2:11562200-11573800	Weak transcription	A549	lung
10	chr2:11562400-11563400	Enhancers	Adipose Nuclei	Adipose
11	chr2:11562800-11563200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:11562800-11563600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:11562800-11582400	Weak transcription	Left Ventricle	heart
14	chr2:11563000-11583800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:11563000-11586800	Weak transcription	Psoas Muscle	Psoas

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