Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172525954..172528530-chr2:172530857..172533373,2	MCF-7	breast:
2	chr2:172526794..172530696-chr2:172532860..172536577,3	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10184770	0.80[AFR][1000 genomes]
rs10185633	0.83[AFR][1000 genomes]
rs10201520	0.81[AFR][1000 genomes]
rs10930493	0.81[AFR][1000 genomes]
rs11692132	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1515812	0.83[AFR][1000 genomes]
rs1554165	0.82[AFR][1000 genomes]
rs16859721	0.87[LWK][hapmap];0.82[AFR][1000 genomes]
rs1850031	0.83[AFR][1000 genomes]
rs2037164	0.82[AFR][1000 genomes]
rs2292813	0.87[LWK][hapmap]
rs2292814	0.89[LWK][hapmap];0.80[AFR][1000 genomes]
rs312917	0.85[LWK][hapmap];0.81[AFR][1000 genomes]
rs58565148	0.82[AFR][1000 genomes]
rs59414074	0.83[AFR][1000 genomes]
rs6760680	0.82[YRI][hapmap]
rs7574711	0.80[AFR][1000 genomes]
rs7588351	0.80[AFR][1000 genomes]
rs7597387	0.88[YRI][hapmap]
rs9287948	0.80[AFR][1000 genomes]
rs979956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs979957	AC068039.4	cis	Whole Blood	GTEx
rs979957	SLC25A12	cis	parietal	SCAN
rs979957	AC068039.4	cis	Muscle Skeletal	GTEx
rs979957	AC068039.4	cis	Stomach	GTEx
rs979957	AC068039.4	cis	Thyroid	GTEx
rs979957	AC068039.4	cis	Esophagus Mucosa	GTEx
rs979957	AC068039.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172525000-172529000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:172525400-172529200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:172525600-172528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:172526800-172529200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:172527800-172530600	Enhancers	Fetal Lung	lung
6	chr2:172528000-172529000	Weak transcription	Brain Inferior Temporal Lobe	brain

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