Variant report

Variant	rs2112905
Chromosome Location	chr5:57484307-57484308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57480309..57485854-chr5:57746705..57749645,6	MCF-7	breast:
2	chr5:57476926..57490322-chr5:57753628..57758155,26	MCF-7	breast:
3	chr5:57477916..57481431-chr5:57481890..57485680,5	MCF-7	breast:
4	chr5:57390968..57391561-chr5:57483766..57484570,2	MCF-7	breast:
5	chr5:57481839..57487904-chr5:57753425..57757545,13	MCF-7	breast:
6	chr5:57482131..57485678-chr5:57554046..57557182,5	MCF-7	breast:
7	chr5:57156959..57158801-chr5:57482652..57484519,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10940600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10940601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11960642	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12521574	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163245	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13173077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13173083	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13178618	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13180583	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473199	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2052545	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2194194	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2216681	0.85[AMR][1000 genomes]
rs2910568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2910570	0.87[ASN][1000 genomes]
rs2910595	0.85[AMR][1000 genomes]
rs2910597	0.81[ASW][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs2910608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962005	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2962006	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[ASN][1000 genomes]
rs2962014	0.93[ASW][hapmap];0.86[CHD][hapmap]
rs2964179	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2964181	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964189	0.93[ASW][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes]
rs35057576	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35133491	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6876418	0.82[CHB][hapmap];0.91[CHD][hapmap]
rs6889867	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6891650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7446005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7734713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2112905	GZMA	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57477200-57486000	Enhancers	HSMM	muscle
2	chr5:57478800-57484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:57479400-57485200	Weak transcription	Aorta	Aorta
4	chr5:57480000-57486000	Enhancers	Osteobl	bone
5	chr5:57482600-57486000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:57482600-57486000	Enhancers	HMEC	breast
7	chr5:57482800-57485000	Enhancers	Liver	Liver
8	chr5:57482800-57485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:57482800-57486200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:57482800-57486200	Enhancers	HSMMtube	muscle
11	chr5:57483000-57484400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:57483000-57485000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:57483000-57486000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:57483000-57488400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:57483400-57484400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:57483400-57485000	Enhancers	HUVEC	blood vessel
17	chr5:57483400-57485000	Enhancers	NH-A	brain
18	chr5:57483400-57485600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:57483600-57484400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:57483600-57484600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:57483600-57485400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:57483600-57485600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:57483600-57486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:57483600-57486000	Enhancers	NHDF-Ad	bronchial
25	chr5:57483600-57486000	Enhancers	NHLF	lung
26	chr5:57483800-57484400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:57483800-57484400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:57483800-57484400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:57483800-57484400	Flanking Active TSS	NHEK	skin
30	chr5:57483800-57484600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:57483800-57485200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:57483800-57485400	Enhancers	Adipose Nuclei	Adipose
33	chr5:57484000-57484400	Enhancers	Fetal Kidney	kidney
34	chr5:57484000-57485000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:57484000-57485200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:57484200-57484400	Enhancers	Fetal Muscle Leg	muscle
37	chr5:57484200-57484400	Enhancers	Gastric	stomach
38	chr5:57484200-57484400	Enhancers	Left Ventricle	heart
39	chr5:57484200-57484600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:57484200-57484600	Active TSS	Psoas Muscle	Psoas
41	chr5:57484200-57484600	Active TSS	A549	lung
42	chr5:57484200-57486000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:57484200-57488200	Enhancers	Hela-S3	cervix

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