Variant report

Variant	rs12614059
Chromosome Location	chr2:73347133-73347134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73339590..73341951-chr2:73346854..73348830,2	K562	blood:

Variant related genes	Relation type
ENSG00000135631	Chromatin interaction
ENSG00000272702	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10167566	0.84[ASN][1000 genomes]
rs10174548	0.90[ASN][1000 genomes]
rs10180720	0.84[ASN][1000 genomes]
rs10180995	0.89[ASN][1000 genomes]
rs10190861	0.84[ASN][1000 genomes]
rs10203608	0.86[ASN][1000 genomes]
rs1046186	0.86[ASN][1000 genomes]
rs10865396	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11126389	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11126390	0.84[ASN][1000 genomes]
rs11686557	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11693673	0.83[ASN][1000 genomes]
rs11885522	0.91[ASN][1000 genomes]
rs12104691	0.89[ASN][1000 genomes]
rs13018842	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13019020	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13385994	0.86[ASN][1000 genomes]
rs13391532	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13393567	0.84[ASN][1000 genomes]
rs13400920	0.94[ASN][1000 genomes]
rs13400948	0.84[ASN][1000 genomes]
rs13403757	0.84[ASN][1000 genomes]
rs13403781	0.84[ASN][1000 genomes]
rs13407719	0.84[ASN][1000 genomes]
rs13416407	0.89[ASN][1000 genomes]
rs13427947	0.86[ASN][1000 genomes]
rs1430349	0.94[ASN][1000 genomes]
rs1430350	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1430351	0.91[ASN][1000 genomes]
rs17008631	0.84[ASN][1000 genomes]
rs1864488	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1992133	0.86[ASN][1000 genomes]
rs35131031	0.93[ASN][1000 genomes]
rs3813222	0.89[ASN][1000 genomes]
rs3813223	0.86[ASN][1000 genomes]
rs3901273	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4591365	0.91[ASN][1000 genomes]
rs4852908	0.83[ASN][1000 genomes]
rs55894650	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57536428	0.84[ASN][1000 genomes]
rs57701326	0.91[ASN][1000 genomes]
rs57726945	0.94[ASN][1000 genomes]
rs57937746	0.84[ASN][1000 genomes]
rs6546800	0.89[ASN][1000 genomes]
rs6546801	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6710739	0.82[ASN][1000 genomes]
rs6710755	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712925	0.89[ASN][1000 genomes]
rs6720817	0.85[ASN][1000 genomes]
rs6727919	0.89[ASN][1000 genomes]
rs6729266	0.86[ASN][1000 genomes]
rs6736153	0.90[ASN][1000 genomes]
rs6749237	0.85[ASN][1000 genomes]
rs727470	0.90[ASN][1000 genomes]
rs727471	0.90[ASN][1000 genomes]
rs7557173	0.90[ASN][1000 genomes]
rs7559074	0.91[ASN][1000 genomes]
rs7559340	0.90[ASN][1000 genomes]
rs7566904	0.84[ASN][1000 genomes]
rs7567413	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7570459	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7593322	0.92[ASN][1000 genomes]
rs7596830	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7599657	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7602651	0.94[ASN][1000 genomes]
rs891432	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs891433	0.89[ASN][1000 genomes]
rs9309471	0.90[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:73345200-73348000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:73345600-73356200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:73346800-73347200	Enhancers	Fetal Intestine Small	intestine
4	chr2:73346800-73347400	Flanking Active TSS	HepG2	liver

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