Variant report

Variant	rs154491
Chromosome Location	chr5:57742907-57742908
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs149132	0.88[ASN][1000 genomes]
rs150249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151890	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151892	0.88[ASN][1000 genomes]
rs151893	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs154472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154490	0.88[ASN][1000 genomes]
rs154492	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs154493	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs158150	0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs158152	0.84[ASN][1000 genomes]
rs158153	0.84[ASN][1000 genomes]
rs158154	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158160	0.88[ASN][1000 genomes]
rs158280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158281	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173450	0.88[ASN][1000 genomes]
rs2291634	0.81[AFR][1000 genomes]
rs32614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs32616	0.82[ASN][1000 genomes]
rs3763110	0.81[AFR][1000 genomes]
rs39967	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41088	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs42739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42740	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs697134	0.94[CEU][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs702709	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs702720	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73094318	0.81[AFR][1000 genomes]
rs73094327	0.81[AFR][1000 genomes]
rs73094329	0.81[AFR][1000 genomes]
rs832631	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs832636	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs154491	GZMK	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57735200-57751400	Weak transcription	Psoas Muscle	Psoas
2	chr5:57737000-57747400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:57737400-57747000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:57737800-57748600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:57737800-57749000	Weak transcription	Fetal Lung	lung
6	chr5:57740400-57743000	Weak transcription	HSMM	muscle
7	chr5:57741200-57744800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:57741200-57745200	Weak transcription	NHEK	skin
9	chr5:57741200-57747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:57741400-57746000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:57741400-57750200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:57741600-57745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:57741600-57747200	Weak transcription	Esophagus	oesophagus
14	chr5:57742000-57743000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr5:57742200-57743000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:57742200-57743000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:57742200-57743200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:57742200-57743200	Strong transcription	HMEC	breast
19	chr5:57742200-57743400	Strong transcription	A549	lung
20	chr5:57742200-57747800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:57742400-57743000	Enhancers	NHDF-Ad	bronchial
22	chr5:57742400-57745000	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:57742600-57746200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:57742600-57747400	Weak transcription	Fetal Brain Female	brain
25	chr5:57742800-57743000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:57742800-57743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:57742800-57743600	Genic enhancers	NH-A	brain
28	chr5:57742800-57743600	Enhancers	Osteobl	bone
29	chr5:57742800-57750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:57742800-57750800	Weak transcription	Aorta	Aorta
31	chr5:57742800-57751400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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