Variant report

Variant	rs1948852
Chromosome Location	chr12:60703616-60703617
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	chr12:60698655..60700197-chr12:60702570..60704279,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10747869	0.96[ASN][1000 genomes]
rs10784031	0.88[ASN][1000 genomes]
rs11173375	0.96[ASN][1000 genomes]
rs11173381	0.96[ASN][1000 genomes]
rs11173388	0.88[ASN][1000 genomes]
rs11173406	0.98[AFR][1000 genomes]
rs12296463	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12297378	0.87[AMR][1000 genomes]
rs12299963	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12303842	0.87[AMR][1000 genomes]
rs12303899	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12306142	0.87[AMR][1000 genomes]
rs12307563	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12308835	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12309540	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12317243	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12321091	0.87[AMR][1000 genomes]
rs12321390	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12322592	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1304314	0.96[ASN][1000 genomes]
rs1354471	0.96[ASN][1000 genomes]
rs1493326	0.87[AMR][1000 genomes]
rs17123427	0.87[AMR][1000 genomes]
rs17123435	0.88[ASN][1000 genomes]
rs17123543	0.96[ASN][1000 genomes]
rs17123549	0.96[ASN][1000 genomes]
rs17123637	0.96[ASN][1000 genomes]
rs2364147	0.96[ASN][1000 genomes]
rs3902471	0.96[ASN][1000 genomes]
rs4320983	0.96[ASN][1000 genomes]
rs4435040	0.96[ASN][1000 genomes]
rs4520627	0.96[ASN][1000 genomes]
rs4556582	0.96[ASN][1000 genomes]
rs61357417	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7132436	0.96[ASN][1000 genomes]
rs7133571	0.87[AMR][1000 genomes]
rs7135299	0.96[ASN][1000 genomes]
rs7139186	0.96[ASN][1000 genomes]
rs7297241	0.96[ASN][1000 genomes]
rs7300012	0.96[ASN][1000 genomes]
rs7300515	0.96[ASN][1000 genomes]
rs7300765	0.87[AMR][1000 genomes]
rs7309556	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7310877	0.87[AMR][1000 genomes]
rs73370703	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73370791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7961348	0.88[ASN][1000 genomes]
rs7975734	0.96[ASN][1000 genomes]
rs978912	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047466	chr12:60702221-61521156	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60701200-60704000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60701200-60705000	Enhancers	HMEC	breast
3	chr12:60701200-60706200	Enhancers	NHEK	skin
4	chr12:60701600-60706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:60701800-60706400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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