Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77670339..77672949-chr14:77673873..77676008,3	MCF-7	breast:
2	chr14:77672224..77674882-chr14:77679223..77681930,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1504522	0.90[CEU][hapmap];0.96[AMR][1000 genomes]
rs17750140	0.90[CEU][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2021536	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2287380	1.00[CEU][hapmap]
rs2540887	1.00[CEU][hapmap]
rs2540893	0.89[AMR][1000 genomes]
rs2540894	0.89[AMR][1000 genomes]
rs2540895	0.90[CEU][hapmap];1.00[AMR][1000 genomes]
rs2540901	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2655976	0.90[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34970502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs367095	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs374227	1.00[CEU][hapmap]
rs376645	1.00[CEU][hapmap]
rs380489	1.00[CEU][hapmap]
rs382670	1.00[CEU][hapmap]
rs382868	1.00[CEU][hapmap]
rs384204	1.00[CEU][hapmap]
rs396750	1.00[CEU][hapmap]
rs419630	1.00[CEU][hapmap]
rs428868	1.00[CEU][hapmap]
rs451303	1.00[CEU][hapmap]
rs4903561	1.00[CEU][hapmap]
rs71413450	1.00[AMR][1000 genomes]
rs8010477	1.00[CEU][hapmap]
rs905734	0.90[CEU][hapmap]
rs905735	0.96[AMR][1000 genomes];0.81[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs750932	TMEM63C	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77654600-77679400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:77662000-77674400	Weak transcription	Brain Substantia Nigra	brain
4	chr14:77670800-77672600	Weak transcription	Brain Anterior Caudate	brain
5	chr14:77670800-77672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:77670800-77675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:77671000-77679200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:77671000-77685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:77671000-77686200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:77671200-77674600	Weak transcription	Fetal Brain Male	brain
11	chr14:77671200-77678600	Weak transcription	Fetal Brain Female	brain
12	chr14:77671200-77679600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:77671400-77673600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:77672000-77672400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:77672000-77672800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:77672200-77672400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:77672200-77672800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:77672200-77673600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:77672200-77676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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