Variant report

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12063966	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692657	1.00[EUR][1000 genomes]
rs828052	0.82[YRI][hapmap]
rs828054	0.82[YRI][hapmap]

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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12066847	ADAM23	trans	lymphoblastoid	seeQTL
rs12066847	VIM	trans	lymphoblastoid	seeQTL
rs12066847	TRIB2	trans	lymphoblastoid	seeQTL
rs12066847	C14orf45	trans	lymphoblastoid	seeQTL
rs12066847	TFEC	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:97611600-97639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:97620200-97658400	Weak transcription	Lung	lung
4	chr1:97626600-97660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:97627000-97629200	Weak transcription	Ovary	ovary
6	chr1:97627000-97635600	Weak transcription	Fetal Brain Female	brain
7	chr1:97627000-97643000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:97627600-97657800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:97628800-97629200	ZNF genes & repeats	Fetal Lung	lung
10	chr1:97628800-97629400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr1:97629000-97629200	Genic enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:97629000-97629200	Weak transcription	NHDF-Ad	bronchial
13	chr1:97629000-97629400	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr1:97629000-97629400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr1:97629000-97629400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
16	chr1:97629000-97629600	ZNF genes & repeats	Liver	Liver
17	chr1:97629000-97629600	ZNF genes & repeats	GM12878-XiMat	blood
18	chr1:97629000-97630400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:97629000-97630400	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:97629000-97630400	ZNF genes & repeats	Primary T cells from cord blood	blood

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