Variant report

Variant	rs12975546
Chromosome Location	chr19:44744870-44744871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44738727..44740500-chr19:44743424..44745617,2	K562	blood:
2	chr19:44737360..44739314-chr19:44742429..44745029,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10405450	0.82[EUR][1000 genomes]
rs10410086	0.82[EUR][1000 genomes]
rs10423306	0.82[EUR][1000 genomes]
rs10425945	0.86[CEU][hapmap]
rs10775542	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11666199	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11667521	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11671074	0.82[AMR][1000 genomes]
rs12459795	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12460431	0.86[AMR][1000 genomes]
rs12461251	0.81[AMR][1000 genomes]
rs12462557	1.00[CEU][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12462723	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12972784	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12975315	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12980565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2014501	0.82[EUR][1000 genomes]
rs2051058	0.88[AMR][1000 genomes]
rs2051059	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2125578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125579	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2168989	0.85[CEU][hapmap]
rs2232801	0.85[CEU][hapmap]
rs2279072	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs2279073	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356727	0.84[AMR][1000 genomes]
rs4592768	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4802217	0.84[AMR][1000 genomes]
rs4802218	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4803694	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6509150	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7251682	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7252577	0.82[EUR][1000 genomes]
rs7253196	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7253533	0.85[CEU][hapmap]
rs7259916	0.86[EUR][1000 genomes]
rs7260304	0.89[CEU][hapmap]
rs7508523	0.88[AMR][1000 genomes]
rs8101032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8102037	0.87[EUR][1000 genomes]
rs8105073	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8105479	0.80[YRI][hapmap];0.92[AFR][1000 genomes]
rs8106766	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8108934	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8109462	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8109706	0.86[AMR][1000 genomes]
rs9304640	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs9646642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12975546	ZNF233	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44729800-44768600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:44730000-44745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44730000-44775600	ZNF genes & repeats	Liver	Liver
4	chr19:44730200-44754600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44740000-44746400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:44740200-44750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44740200-44752200	Weak transcription	Hela-S3	cervix
8	chr19:44741000-44745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:44741000-44745600	Weak transcription	Brain Angular Gyrus	brain
10	chr19:44741000-44752600	Weak transcription	NHDF-Ad	bronchial
11	chr19:44741000-44753000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:44741200-44745000	Weak transcription	HSMMtube	muscle
13	chr19:44741200-44745600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:44741200-44748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:44741200-44748000	Weak transcription	Fetal Brain Male	brain
16	chr19:44741400-44745800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:44741400-44751800	Weak transcription	HSMM	muscle
18	chr19:44741800-44748600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:44742000-44746600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:44742000-44763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:44742200-44746600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:44742400-44745400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:44742600-44745400	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:44743200-44745800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44743400-44745400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:44743400-44750800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:44743600-44746200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:44743600-44747400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:44743800-44745000	Strong transcription	Brain Germinal Matrix	brain
30	chr19:44744200-44745200	Weak transcription	A549	lung
31	chr19:44744200-44747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:44744400-44746200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:44744600-44747400	Weak transcription	Left Ventricle	heart

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