Variant report

Variant	rs17123427
Chromosome Location	chr12:60537317-60537318
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	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10747869	0.84[ASN][1000 genomes]
rs10784031	0.92[ASN][1000 genomes]
rs11173317	1.00[AMR][1000 genomes]
rs11173375	0.84[ASN][1000 genomes]
rs11173381	0.84[ASN][1000 genomes]
rs12296463	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12297378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12299963	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12303842	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303899	0.87[AMR][1000 genomes]
rs12306142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307563	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12308835	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12309540	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12316539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317243	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12321091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12321390	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12322592	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1304314	0.84[ASN][1000 genomes]
rs1354471	0.84[ASN][1000 genomes]
rs1493326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123435	0.92[ASN][1000 genomes]
rs17123543	0.84[ASN][1000 genomes]
rs17123549	0.84[ASN][1000 genomes]
rs17123637	0.84[ASN][1000 genomes]
rs1948852	0.87[AMR][1000 genomes]
rs2364147	0.84[ASN][1000 genomes]
rs3902471	0.84[ASN][1000 genomes]
rs4320983	0.84[ASN][1000 genomes]
rs4435040	0.84[ASN][1000 genomes]
rs4520627	0.84[ASN][1000 genomes]
rs4556582	0.84[ASN][1000 genomes]
rs57945859	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61357417	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7132436	0.84[ASN][1000 genomes]
rs7133571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135299	0.84[ASN][1000 genomes]
rs7139186	0.84[ASN][1000 genomes]
rs7297241	0.84[ASN][1000 genomes]
rs7300012	0.84[ASN][1000 genomes]
rs7300515	0.84[ASN][1000 genomes]
rs7300765	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7309556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7310877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73364859	1.00[AMR][1000 genomes]
rs73370703	0.84[ASN][1000 genomes]
rs73370791	0.87[AMR][1000 genomes]
rs7975734	0.84[ASN][1000 genomes]
rs978912	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv511495	chr12:60518599-60541932	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv559107	chr12:60518842-60540108	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv559108	chr12:60518842-60548334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559119	chr12:60522630-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1793962	chr12:60522630-60541932	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1846332	chr12:60522725-60541932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1851665	chr12:60522725-60549171	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv559129	chr12:60522829-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv559136	chr12:60523425-60540108	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60536800-60540600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:60537000-60540000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:60537200-60537600	Weak transcription	K562	blood

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