Variant report

Variant	rs8085407
Chromosome Location	chr18:29682453-29682454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29681785..29684707-chr18:29693344..29695813,2	K562	blood:
2	chr18:29680321..29683209-chr18:29688783..29690321,2	K562	blood:
3	chr18:29672581..29675968-chr18:29680279..29686298,5	K562	blood:

Variant related genes	Relation type
ENSG00000134758	Chromatin interaction
ENSG00000238982	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10775450	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1814795	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28378426	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4239373	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4799325	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4799628	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4799631	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61392417	0.82[EUR][1000 genomes]
rs8092272	0.83[EUR][1000 genomes]
rs8095867	0.81[AMR][1000 genomes]
rs889888	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9953463	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9955978	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9962565	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8085407	RNF138	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 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	chr18:29674600-29695600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:29674600-29703000	Weak transcription	Osteobl	bone
17	chr18:29674600-29705600	Weak transcription	NHLF	lung
18	chr18:29674800-29689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:29675000-29692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:29675000-29694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:29675000-29717200	Weak transcription	NH-A	brain
22	chr18:29675200-29692800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:29675400-29689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:29675400-29693200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:29675400-29693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:29675600-29691000	Weak transcription	HUVEC	blood vessel
27	chr18:29675600-29691800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:29675800-29692000	Weak transcription	HMEC	breast
29	chr18:29676000-29693000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr18:29676200-29692000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:29676200-29697200	Weak transcription	NHDF-Ad	bronchial
32	chr18:29676400-29691800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr18:29676400-29692200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr18:29676400-29693200	Weak transcription	Fetal Lung	lung
35	chr18:29676400-29707000	Weak transcription	Brain Angular Gyrus	brain
36	chr18:29676600-29684400	Weak transcription	Brain Substantia Nigra	brain
37	chr18:29676600-29692200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr18:29676600-29692200	Weak transcription	NHEK	skin
39	chr18:29676600-29704800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr18:29676800-29683000	Strong transcription	Fetal Intestine Small	intestine
41	chr18:29676800-29691800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:29676800-29697400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:29676800-29704600	Weak transcription	Fetal Brain Female	brain
44	chr18:29676800-29705000	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:29676800-29717200	Weak transcription	Brain Germinal Matrix	brain
46	chr18:29677000-29691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:29677000-29692200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:29677000-29692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr18:29677000-29696800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:29677000-29713800	Weak transcription	Small Intestine	intestine

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