Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:24818454..24820974-chr14:24834227..24837895,4	MCF-7	breast:
2	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
3	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
4	chr14:24813162..24815841-chr14:24817612..24820554,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10130279	0.81[ASN][1000 genomes]
rs10141054	0.81[ASN][1000 genomes]
rs10148620	0.88[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1109152	0.94[CHB][hapmap]
rs1109153	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs11621904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12050389	0.95[ASN][1000 genomes]
rs12433338	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12436194	0.81[ASN][1000 genomes]
rs12436417	0.93[CHB][hapmap]
rs12881276	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332325	0.94[ASN][1000 genomes]
rs28457795	0.88[ASN][1000 genomes]
rs28575809	0.81[ASN][1000 genomes]
rs28637873	0.87[ASN][1000 genomes]
rs28695950	0.81[ASN][1000 genomes]
rs3181251	0.82[ASN][1000 genomes]
rs3212242	0.94[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs3212243	0.94[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs3212260	0.81[ASN][1000 genomes]
rs7147370	0.87[AMR][1000 genomes];0.86[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8014112	ASS1	trans	lymphoblastoid	seeQTL
rs8014112	OR6S1	cis	parietal	SCAN
rs8014112	GMPR2	cis	parietal	SCAN
rs8014112	ADCY4	cis	cerebellum	SCAN
rs8014112	DHRS1	cis	cerebellum	SCAN
rs8014112	RIPK3	cis	parietal	SCAN
rs8014112	NFATC4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24809600-24821000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:24816600-24820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:24816600-24820800	Weak transcription	Lung	lung
4	chr14:24816600-24823000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:24816800-24820600	Weak transcription	K562	blood
6	chr14:24816800-24820800	Weak transcription	Stomach Mucosa	stomach
7	chr14:24817200-24821000	Weak transcription	Fetal Intestine Small	intestine
8	chr14:24818600-24819400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:24818600-24824600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:24818800-24819800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:24819000-24820400	Weak transcription	Osteobl	bone

Quick Search: