Variant report

Variant	rs4847254
Chromosome Location	chr1:94203626-94203627
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	chr1:94203575..94205213-chr1:94206735..94208348,2	K562	blood:
2	chr1:94199457..94202418-chr1:94202668..94205651,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10874797	0.95[EUR][1000 genomes]
rs11164970	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11164973	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11164974	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11582870	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1884019	0.89[EUR][1000 genomes]
rs2092700	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2747036	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2747037	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2747038	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2747040	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2747042	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2747044	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2747047	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2747049	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2818161	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2818165	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2818166	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2818167	0.96[EUR][1000 genomes]
rs4520428	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4847184	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4847192	0.89[EUR][1000 genomes]
rs4847257	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6541399	0.95[EUR][1000 genomes]
rs6660210	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6667986	0.93[EUR][1000 genomes]
rs6703684	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7523787	0.89[EUR][1000 genomes]
rs7552293	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs947343	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4847254	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4847254	RP11-488P3.1	cis	Heart Left Ventricle	GTEx
rs4847254	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL
rs4847254	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs4847254	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94196200-94205800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:94196600-94204000	Weak transcription	Lung	lung
3	chr1:94197600-94205800	Weak transcription	Spleen	Spleen
4	chr1:94197800-94205800	Weak transcription	Right Atrium	heart
5	chr1:94199000-94204000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:94199000-94204000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:94199000-94207000	Enhancers	HSMM	muscle
8	chr1:94199400-94204200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:94199400-94205800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:94199400-94217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94199600-94204800	Enhancers	Osteobl	bone
12	chr1:94200000-94204000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:94200200-94204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94200200-94207000	Enhancers	NHDF-Ad	bronchial
15	chr1:94200400-94203800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:94200400-94206000	Enhancers	HMEC	breast
17	chr1:94200600-94203800	Enhancers	NHEK	skin
18	chr1:94200600-94204000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:94200600-94205400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:94200800-94205800	Weak transcription	HepG2	liver
21	chr1:94201000-94203800	Weak transcription	Hela-S3	cervix
22	chr1:94201200-94206200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:94202200-94205000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:94202600-94206800	Enhancers	NHLF	lung
25	chr1:94203000-94203800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:94203000-94205000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:94203000-94205000	Enhancers	NH-A	brain
28	chr1:94203000-94206800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:94203200-94204800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:94203200-94206800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:94203400-94204800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:94203400-94206600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:94203400-94206800	Enhancers	Placenta	Placenta
34	chr1:94203600-94204000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:94203600-94204400	Enhancers	HSMMtube	muscle
36	chr1:94203600-94204800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:94203600-94204800	Enhancers	A549	lung
38	chr1:94203600-94206800	Enhancers	Muscle Satellite Cultured Cells	--

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