Variant report

Variant	rs3891522
Chromosome Location	chr8:49676321-49676322
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11984867	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990439	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11991055	0.86[AMR][1000 genomes]
rs11991779	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11992261	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11994469	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.95[AMR][1000 genomes]
rs11997496	0.91[YRI][hapmap]
rs16938757	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16938768	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3756	1.00[ASW][hapmap];1.00[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.95[AMR][1000 genomes]
rs55988643	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56109904	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56179259	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56290318	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58596858	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59320109	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60378087	0.86[AMR][1000 genomes]
rs73678171	0.86[AMR][1000 genomes]
rs73678197	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680708	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680713	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3891522	PLEKHA5	trans	brain	seeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49670800-49676400	Weak transcription	HSMMtube	muscle
2	chr8:49671400-49676800	Weak transcription	Right Atrium	heart
3	chr8:49671400-49677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:49671400-49677400	Weak transcription	Lung	lung
5	chr8:49673800-49677000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:49675000-49677600	Enhancers	Colon Smooth Muscle	Colon
7	chr8:49675000-49677600	Enhancers	Ovary	ovary
8	chr8:49675200-49679600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:49675400-49676600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:49675400-49678200	Enhancers	Fetal Stomach	stomach
11	chr8:49675600-49676400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:49675600-49676400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:49675600-49676400	Enhancers	NHEK	skin
14	chr8:49675600-49676600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:49675600-49676600	Enhancers	Osteobl	bone
16	chr8:49675600-49677200	Enhancers	Rectal Smooth Muscle	rectum
17	chr8:49675600-49677400	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:49675600-49677600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:49675600-49677600	Enhancers	Adipose Nuclei	Adipose
20	chr8:49675600-49677600	Enhancers	Fetal Brain Male	brain
21	chr8:49675600-49677600	Enhancers	Fetal Lung	lung
22	chr8:49675600-49677600	Enhancers	Fetal Muscle Leg	muscle
23	chr8:49675600-49677800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:49675600-49677800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:49675600-49678000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:49675600-49678400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:49675600-49678400	Enhancers	Placenta	Placenta
28	chr8:49675600-49678800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:49675800-49676400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:49675800-49676600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:49675800-49677000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:49675800-49677200	Enhancers	Fetal Brain Female	brain
33	chr8:49675800-49677400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:49675800-49677400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:49675800-49677400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:49675800-49677400	Enhancers	Hela-S3	cervix
37	chr8:49675800-49677800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:49675800-49677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:49675800-49677800	Enhancers	NHLF	lung
40	chr8:49675800-49678000	Enhancers	NHDF-Ad	bronchial
41	chr8:49675800-49678600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:49676000-49676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:49676000-49676400	Enhancers	Stomach Smooth Muscle	stomach
44	chr8:49676000-49676600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:49676000-49676600	Weak transcription	Pancreas	Pancrea
46	chr8:49676000-49677000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:49676000-49677200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:49676000-49677600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:49676000-49677600	Enhancers	HMEC	breast
50	chr8:49676200-49676600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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