Variant report

Variant	rs4847184
Chromosome Location	chr1:94226427-94226428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94225633..94227882-chr1:94228603..94231021,2	K562	blood:
2	chr1:94224636..94227402-chr1:94312918..94314465,2	K562	blood:
3	chr1:94221851..94223407-chr1:94225260..94226777,2	K562	blood:
4	chr1:93913764..93915634-chr1:94226011..94227740,2	MCF-7	breast:
5	chr1:94220471..94223351-chr1:94224918..94226777,2	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10874797	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164970	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164973	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164974	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11582870	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1884019	0.92[CEU][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes]
rs1980083	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2092700	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2391315	0.82[CEU][hapmap]
rs2391321	0.82[CEU][hapmap]
rs2747036	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2747037	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2747038	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2747040	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2747042	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2747044	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2747047	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2747049	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2818161	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2818165	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2818166	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2818167	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4520428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847192	0.89[EUR][1000 genomes]
rs4847254	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4847257	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541399	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6660210	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6667986	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6703684	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7523787	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7552293	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs947343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9651128	0.88[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4847184	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx
rs4847184	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs4847184	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4847184	RP11-488P3.1	cis	Heart Left Ventricle	GTEx
rs4847184	RP11-488P3.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94219800-94231600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
3	chr1:94221200-94226600	Enhancers	Placenta	Placenta
4	chr1:94222400-94228200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:94223000-94237000	Weak transcription	NHEK	skin
6	chr1:94223400-94226800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:94223600-94229200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:94224200-94227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:94224600-94227000	Enhancers	Hela-S3	cervix
10	chr1:94224800-94228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:94225000-94231800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:94225000-94233600	Weak transcription	Right Atrium	heart
13	chr1:94225200-94227000	Enhancers	HepG2	liver
14	chr1:94225400-94231600	Weak transcription	Thymus	Thymus
15	chr1:94225600-94227600	Weak transcription	HMEC	breast
16	chr1:94225600-94230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:94225600-94233600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:94225600-94233800	Weak transcription	Fetal Lung	lung
19	chr1:94226400-94230200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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