Variant report

Variant	rs10784031
Chromosome Location	chr12:60570478-60570479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60569954..60572860-chr12:60574344..60576067,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10747869	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173375	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173381	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173388	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12296463	1.00[ASN][1000 genomes]
rs12297378	0.92[ASN][1000 genomes]
rs12299963	0.92[ASN][1000 genomes]
rs12307563	0.92[ASN][1000 genomes]
rs12308835	0.92[ASN][1000 genomes]
rs12309540	1.00[ASN][1000 genomes]
rs12317243	1.00[ASN][1000 genomes]
rs12321091	0.92[ASN][1000 genomes]
rs12321390	1.00[ASN][1000 genomes]
rs12322592	0.92[ASN][1000 genomes]
rs1304314	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1354471	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17123427	0.92[ASN][1000 genomes]
rs17123435	1.00[ASN][1000 genomes]
rs17123543	0.92[ASN][1000 genomes]
rs17123549	0.92[ASN][1000 genomes]
rs17123637	0.92[ASN][1000 genomes]
rs1948852	0.88[ASN][1000 genomes]
rs2364147	0.92[ASN][1000 genomes]
rs3902471	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4320983	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4435040	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4520627	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4556582	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61357417	0.92[ASN][1000 genomes]
rs7132436	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7135299	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7139186	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7297241	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7300012	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7300515	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7309556	1.00[ASN][1000 genomes]
rs7310877	0.92[ASN][1000 genomes]
rs73370703	0.92[ASN][1000 genomes]
rs73370791	0.88[ASN][1000 genomes]
rs7961348	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7975734	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs978912	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 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	chr12:60567200-60582400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60569000-60573600	Weak transcription	NHDF-Ad	bronchial
3	chr12:60569800-60573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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