Variant report

Variant	rs8011288
Chromosome Location	chr14:55735112-55735113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55692693..55694310-chr14:55734461..55736861,2	K562	blood:
2	chr14:55732991..55735732-chr14:55744653..55746589,2	MCF-7	breast:
3	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
4	chr14:55727113..55735518-chr14:55736186..55741884,14	K562	blood:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000126787	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10131913	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10131926	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10139083	0.90[EUR][1000 genomes]
rs10139337	0.96[EUR][1000 genomes]
rs10139678	0.89[EUR][1000 genomes]
rs10140801	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10140869	0.90[EUR][1000 genomes]
rs10141483	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10141552	0.93[EUR][1000 genomes]
rs10142547	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142823	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10145203	0.87[EUR][1000 genomes]
rs10150699	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10467798	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1109170	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11547116	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625001	0.92[EUR][1000 genomes]
rs11625423	0.86[EUR][1000 genomes]
rs11628437	0.87[EUR][1000 genomes]
rs12050099	0.94[EUR][1000 genomes]
rs13379169	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17740741	0.94[EUR][1000 genomes]
rs1952087	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2341621	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2341622	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28568813	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4366639	0.86[EUR][1000 genomes]
rs4496026	0.86[EUR][1000 genomes]
rs56949365	0.86[EUR][1000 genomes]
rs58260073	0.91[EUR][1000 genomes]
rs59629906	0.89[EUR][1000 genomes]
rs59871474	0.89[EUR][1000 genomes]
rs60248556	0.92[EUR][1000 genomes]
rs61210954	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573009	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6573010	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573012	0.81[AMR][1000 genomes]
rs6573014	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66696758	0.91[EUR][1000 genomes]
rs67514154	0.91[EUR][1000 genomes]
rs68046603	0.95[EUR][1000 genomes]
rs7142857	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7144292	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7146748	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7146752	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7148171	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153612	0.87[EUR][1000 genomes]
rs7153645	0.91[EUR][1000 genomes]
rs7158768	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158861	0.85[EUR][1000 genomes]
rs72715769	0.92[EUR][1000 genomes]
rs8021583	0.93[EUR][1000 genomes]
rs8022225	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs943590	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8011288	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55730600-55737400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:55732600-55737400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:55733000-55735400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:55733400-55735200	Enhancers	Fetal Heart	heart
5	chr14:55734000-55737600	Weak transcription	Lung	lung
6	chr14:55734200-55737200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:55734400-55737400	Weak transcription	Fetal Lung	lung
8	chr14:55734600-55735200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:55734600-55735200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:55734600-55735200	Enhancers	Fetal Kidney	kidney
11	chr14:55734600-55735400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:55734600-55737200	Weak transcription	K562	blood
13	chr14:55734800-55735200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:55734800-55735200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:55734800-55735200	Enhancers	Aorta	Aorta
16	chr14:55734800-55737400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:55734800-55737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:55734800-55737800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:55735000-55735200	Enhancers	HSMMtube	muscle
20	chr14:55735000-55737200	Weak transcription	Osteobl	bone
21	chr14:55735000-55737400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:55735000-55737600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:55735000-55737600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:55735000-55737600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:55735000-55737800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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