Variant report

Variant	rs62093950
Chromosome Location	chr18:29680294-29680295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29671748..29674705-chr18:29679109..29681037,2	MCF-7	breast:
2	chr18:29677377..29681802-chr18:29685425..29688339,4	K562	blood:
3	chr18:29672581..29675968-chr18:29680279..29686298,5	K562	blood:
4	chr18:29671668..29674783-chr18:29677807..29681561,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238982	Chromatin interaction
ENSG00000134758	Chromatin interaction
ENSG00000265008	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11081746	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11663563	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12455044	0.81[ASN][1000 genomes]
rs12458548	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12458837	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12458851	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12604223	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12605137	0.81[EUR][1000 genomes]
rs1808891	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048245	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3760568	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3980848	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4799326	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4799629	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4799632	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62093949	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7238559	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9676102	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs993897	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62093950	RNF138	cis	Esophagus Mucosa	GTEx
rs62093950	RNF138	Cis_1M	lymphoblastoid	RTeQTL
rs62093950	RNF138	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29673400-29692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29673400-29713800	Weak transcription	Spleen	Spleen
3	chr18:29673800-29702000	Weak transcription	Pancreas	Pancrea
4	chr18:29673800-29714000	Weak transcription	Esophagus	oesophagus
5	chr18:29673800-29714200	Weak transcription	Ovary	ovary
6	chr18:29673800-29715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:29673800-29715200	Weak transcription	Lung	lung
8	chr18:29673800-29715800	Weak transcription	Colonic Mucosa	Colon
9	chr18:29673800-29717000	Weak transcription	HSMMtube	muscle
10	chr18:29674000-29689200	Weak transcription	Right Atrium	heart
11	chr18:29674000-29692600	Weak transcription	Placenta	Placenta
12	chr18:29674000-29712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:29674200-29692800	Weak transcription	HSMM	muscle
14	chr18:29674200-29693000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:29674600-29680800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:29674600-29695600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:29674600-29703000	Weak transcription	Osteobl	bone
18	chr18:29674600-29705600	Weak transcription	NHLF	lung
19	chr18:29674800-29689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:29675000-29680800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:29675000-29692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:29675000-29694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:29675000-29717200	Weak transcription	NH-A	brain
24	chr18:29675200-29692800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:29675400-29681400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:29675400-29681600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:29675400-29689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:29675400-29693200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:29675400-29693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:29675600-29691000	Weak transcription	HUVEC	blood vessel
31	chr18:29675600-29691800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:29675800-29692000	Weak transcription	HMEC	breast
33	chr18:29676000-29681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:29676000-29693000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:29676200-29692000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:29676200-29697200	Weak transcription	NHDF-Ad	bronchial
37	chr18:29676400-29691800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr18:29676400-29692200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:29676400-29693200	Weak transcription	Fetal Lung	lung
40	chr18:29676400-29707000	Weak transcription	Brain Angular Gyrus	brain
41	chr18:29676600-29684400	Weak transcription	Brain Substantia Nigra	brain
42	chr18:29676600-29692200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr18:29676600-29692200	Weak transcription	NHEK	skin
44	chr18:29676600-29704800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr18:29676800-29681800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr18:29676800-29683000	Strong transcription	Fetal Intestine Small	intestine
47	chr18:29676800-29691800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr18:29676800-29697400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr18:29676800-29704600	Weak transcription	Fetal Brain Female	brain
50	chr18:29676800-29705000	Weak transcription	Brain Hippocampus Middle	brain

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