Variant report

Variant	rs8008521
Chromosome Location	chr14:69166038-69166039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69156647..69158227-chr14:69164123..69166696,2	MCF-7	breast:
2	chr14:69163475..69166376-chr14:69176885..69179695,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1034485	0.81[ASN][1000 genomes]
rs11624763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404539	0.81[ASN][1000 genomes]
rs405329	0.81[ASN][1000 genomes]
rs412016	0.81[ASN][1000 genomes]
rs440489	0.82[CHD][hapmap];0.81[GIH][hapmap]
rs444883	0.81[ASN][1000 genomes]
rs6573854	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8013046	0.99[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	nsv1329	chr14:69142476-69176987	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8008521	MPP5	cis	cerebellum	SCAN
rs8008521	ZBTB1	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69153000-69171400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:69156400-69171400	Weak transcription	Pancreas	Pancrea
3	chr14:69156600-69169400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:69157400-69171400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:69158600-69167600	Weak transcription	Primary B cells from cord blood	blood
6	chr14:69160800-69172000	Weak transcription	Fetal Intestine Small	intestine
7	chr14:69161600-69169000	Weak transcription	Gastric	stomach
8	chr14:69161600-69169800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:69161800-69166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:69161800-69169600	Weak transcription	Adipose Nuclei	Adipose
11	chr14:69161800-69172000	Weak transcription	Fetal Stomach	stomach
12	chr14:69162600-69167600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69162600-69168800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:69162600-69168800	Weak transcription	Ovary	ovary
15	chr14:69162800-69168800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:69162800-69168800	Weak transcription	Esophagus	oesophagus
17	chr14:69162800-69169400	Weak transcription	K562	blood
18	chr14:69162800-69169600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:69163200-69169200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:69163200-69169400	Weak transcription	Osteobl	bone
21	chr14:69163200-69171400	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:69163400-69168800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:69163600-69169000	Weak transcription	NHLF	lung
24	chr14:69163800-69167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:69163800-69167800	Weak transcription	Lung	lung
26	chr14:69163800-69168800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:69164000-69167600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69164000-69167800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:69164000-69169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:69164400-69167600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:69165200-69167000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:69165800-69166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69166000-69169400	Weak transcription	Muscle Satellite Cultured Cells	--

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