Variant report

Variant	rs61357417
Chromosome Location	chr12:60628125-60628126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10747869	1.00[ASN][1000 genomes]
rs10784031	0.92[ASN][1000 genomes]
rs11173317	0.93[AMR][1000 genomes]
rs11173375	1.00[ASN][1000 genomes]
rs11173381	1.00[ASN][1000 genomes]
rs11173388	0.92[ASN][1000 genomes]
rs11173406	0.84[AFR][1000 genomes]
rs12296463	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12297378	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12299963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12303842	0.93[AMR][1000 genomes]
rs12303899	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12306142	0.93[AMR][1000 genomes]
rs12307563	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12308835	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12309540	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12316539	0.93[AMR][1000 genomes]
rs12317243	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12321091	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12321390	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12322592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1304314	1.00[ASN][1000 genomes]
rs1354471	1.00[ASN][1000 genomes]
rs1493326	0.93[AMR][1000 genomes]
rs17123427	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17123435	0.92[ASN][1000 genomes]
rs17123500	0.84[AFR][1000 genomes]
rs17123543	1.00[ASN][1000 genomes]
rs17123549	1.00[ASN][1000 genomes]
rs17123637	1.00[ASN][1000 genomes]
rs1948852	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2364147	1.00[ASN][1000 genomes]
rs3902471	1.00[ASN][1000 genomes]
rs4320983	1.00[ASN][1000 genomes]
rs4435040	1.00[ASN][1000 genomes]
rs4520627	1.00[ASN][1000 genomes]
rs4556582	1.00[ASN][1000 genomes]
rs57945859	0.93[AMR][1000 genomes]
rs7132436	1.00[ASN][1000 genomes]
rs7133571	0.93[AMR][1000 genomes]
rs7135299	1.00[ASN][1000 genomes]
rs7139186	1.00[ASN][1000 genomes]
rs7297241	1.00[ASN][1000 genomes]
rs7300012	1.00[ASN][1000 genomes]
rs7300515	1.00[ASN][1000 genomes]
rs7300765	0.93[AMR][1000 genomes]
rs7309556	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7310877	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73364859	0.93[AMR][1000 genomes]
rs73370703	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73370791	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7957218	0.84[AFR][1000 genomes]
rs7961348	0.92[ASN][1000 genomes]
rs7972243	0.84[AFR][1000 genomes]
rs7975734	1.00[ASN][1000 genomes]
rs978912	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	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
4	esv2754064	chr12:60608389-60645117	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60599600-60645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60625200-60632600	Weak transcription	K562	blood
3	chr12:60626800-60628200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:60627200-60628600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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