Variant report

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172777315-172777386	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172772649..172775409-chr2:172776945..172778838,2	K562	blood:
2	chr2:172749595..172751103-chr2:172777206..172778822,2	MCF-7	breast:
3	chr2:172749328..172751742-chr2:172775594..172779310,3	MCF-7	breast:
4	chr2:172776261..172781039-chr2:172946394..172953961,9	K562	blood:
5	chr2:172767380..172770009-chr2:172775350..172777979,2	MCF-7	breast:
6	chr2:172776047..172778713-chr2:172948688..172950823,3	MCF-7	breast:
7	chr2:172544464..172546143-chr2:172776960..172779046,3	K562	blood:
8	chr2:172763886..172766598-chr2:172776885..172778453,2	MCF-7	breast:
9	chr2:172749065..172752809-chr2:172776821..172780584,7	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165126	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10201430	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10202823	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13004237	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13030911	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2165934	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433319	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6727017	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6731562	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750058	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7563971	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7564089	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7602037	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs62182433	AC068039.4	cis	Nerve Tibial	GTEx
rs62182433	AC068039.4	cis	Esophagus Mucosa	GTEx
rs62182433	AC068039.4	cis	Heart Left Ventricle	GTEx
rs62182433	AC068039.4	cis	Esophagus Muscularis	GTEx
rs62182433	AC068039.4	cis	Skin Sun Exposed Lower leg	GTEx
rs62182433	AC068039.4	cis	Thyroid	GTEx
rs62182433	AC068039.4	cis	lung	GTEx
rs62182433	AC068039.4	cis	Adipose Subcutaneous	GTEx
rs62182433	AC068039.4	cis	Whole Blood	GTEx
rs62182433	AC068039.4	cis	Muscle Skeletal	GTEx
rs62182433	SLC25A12	Cis_1M	lymphoblastoid	RTeQTL
rs62182433	AC068039.4	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172777000-172778600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

Quick Search: