Variant report

Variant	rs12021539
Chromosome Location	chr1:93254844-93254845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
2	chr1:93253683..93256527-chr1:93296123..93298986,2	MCF-7	breast:
3	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003116	0.84[EUR][1000 genomes]
rs10735781	0.81[EUR][1000 genomes]
rs10747446	0.81[EUR][1000 genomes]
rs10782937	0.81[EUR][1000 genomes]
rs10782941	0.86[EUR][1000 genomes]
rs10874726	0.81[EUR][1000 genomes]
rs10874727	0.81[EUR][1000 genomes]
rs10874732	0.80[EUR][1000 genomes]
rs10874736	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10874738	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164785	0.81[AMR][1000 genomes]
rs11164789	0.80[EUR][1000 genomes]
rs11164791	0.80[EUR][1000 genomes]
rs11164796	0.84[EUR][1000 genomes]
rs11164807	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164810	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12025792	0.80[EUR][1000 genomes]
rs12123935	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12401423	0.90[EUR][1000 genomes]
rs1337107	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1535372	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065915	0.84[EUR][1000 genomes]
rs2107518	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2107519	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2180976	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2391197	0.85[EUR][1000 genomes]
rs3936944	0.80[EUR][1000 genomes]
rs4294424	0.83[EUR][1000 genomes]
rs4480368	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4622073	0.86[AFR][1000 genomes]
rs4847267	0.83[EUR][1000 genomes]
rs4847301	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4847306	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4847311	0.90[EUR][1000 genomes]
rs4847336	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4847432	0.81[EUR][1000 genomes]
rs6603997	0.81[AMR][1000 genomes]
rs6604007	0.84[EUR][1000 genomes]
rs6604008	0.80[EUR][1000 genomes]
rs6604013	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6604014	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6660136	0.84[EUR][1000 genomes]
rs6666831	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6675753	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6675757	0.81[EUR][1000 genomes]
rs6680578	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7514334	0.81[EUR][1000 genomes]
rs7530780	0.81[EUR][1000 genomes]
rs7549341	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7551324	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93250200-93256800	Weak transcription	Fetal Heart	heart
2	chr1:93251200-93257200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:93251200-93257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:93251200-93257400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:93251400-93255200	Weak transcription	Spleen	Spleen
6	chr1:93251400-93255400	Weak transcription	HepG2	liver
7	chr1:93251600-93256800	Weak transcription	Right Atrium	heart
8	chr1:93252200-93257400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:93252400-93257400	Weak transcription	HUVEC	blood vessel
10	chr1:93252800-93256400	Weak transcription	K562	blood
11	chr1:93253200-93257200	Weak transcription	Stomach Mucosa	stomach

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