Variant report

Variant	rs7315947
Chromosome Location	chr12:104287784-104287785
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104275747..104278016-chr12:104287322..104289959,2	K562	blood:
2	chr12:104282070..104284528-chr12:104287528..104289517,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10745983	0.82[YRI][hapmap]
rs10778293	0.87[YRI][hapmap]
rs10861128	0.88[YRI][hapmap]
rs10861129	0.88[YRI][hapmap]
rs10861144	0.81[ASN][1000 genomes]
rs10861145	0.81[ASN][1000 genomes]
rs11111811	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11111812	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11111814	0.95[ASN][1000 genomes]
rs11111819	0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111820	0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111825	1.00[ASN][1000 genomes]
rs11111829	1.00[ASN][1000 genomes]
rs11111833	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11111835	0.81[ASN][1000 genomes]
rs11111837	0.82[ASN][1000 genomes]
rs11111838	0.82[ASN][1000 genomes]
rs11111839	0.81[ASN][1000 genomes]
rs11111842	0.81[ASN][1000 genomes]
rs11111843	0.81[ASN][1000 genomes]
rs11111844	0.81[ASN][1000 genomes]
rs11111846	0.81[ASN][1000 genomes]
rs11111849	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11111850	0.82[ASN][1000 genomes]
rs11830285	0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831836	0.81[ASN][1000 genomes]
rs11833702	0.81[ASN][1000 genomes]
rs12228360	0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12312978	0.82[YRI][hapmap]
rs17034916	0.81[ASN][1000 genomes]
rs17034931	0.81[ASN][1000 genomes]
rs2374353	0.87[YRI][hapmap]
rs2576974	0.94[ASN][1000 genomes]
rs2583248	0.87[YRI][hapmap]
rs3794246	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4590949	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs57083451	0.81[ASN][1000 genomes]
rs58929830	0.81[ASN][1000 genomes]
rs58943141	0.81[ASN][1000 genomes]
rs7295489	0.82[ASN][1000 genomes]
rs7301247	0.88[AFR][1000 genomes]
rs7302790	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73175819	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73175822	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73177915	0.81[ASN][1000 genomes]
rs73177916	0.83[AFR][1000 genomes]
rs73177918	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73177919	0.83[AFR][1000 genomes];0.81[ASN][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104284600-104288000	Weak transcription	Lung	lung
3	chr12:104284600-104294200	Weak transcription	Thymus	Thymus

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