Variant report

Variant	rs8092272
Chromosome Location	chr18:29715781-29715782
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	chr18:29714493..29716790-chr18:29718511..29720452,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10048285	0.83[ASN][1000 genomes]
rs10048287	0.86[ASN][1000 genomes]
rs1054667	0.85[ASN][1000 genomes]
rs10775450	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10853418	0.80[ASN][1000 genomes]
rs11081747	0.85[ASN][1000 genomes]
rs11663563	0.83[ASN][1000 genomes]
rs12605137	0.82[ASN][1000 genomes]
rs1814795	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2010813	0.85[ASN][1000 genomes]
rs2018380	0.85[ASN][1000 genomes]
rs2048245	0.83[ASN][1000 genomes]
rs28378426	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3980846	0.80[ASN][1000 genomes]
rs4239373	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4799631	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8085407	0.83[EUR][1000 genomes]
rs8094028	0.88[EUR][1000 genomes]
rs9953463	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8092272	RNF138	Cis_1M	lymphoblastoid	RTeQTL
rs8092272	ENSG00000134758	cis	multi-tissue	Pritchard

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29673800-29715800	Weak transcription	Colonic Mucosa	Colon
2	chr18:29673800-29717000	Weak transcription	HSMMtube	muscle
3	chr18:29675000-29717200	Weak transcription	NH-A	brain
4	chr18:29676800-29717200	Weak transcription	Brain Germinal Matrix	brain
5	chr18:29677000-29717000	Weak transcription	Aorta	Aorta
6	chr18:29695800-29717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:29705400-29716400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:29705400-29717800	Weak transcription	A549	lung
9	chr18:29706200-29718600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:29707400-29718400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr18:29707800-29717200	Weak transcription	HSMM	muscle
12	chr18:29709200-29717400	Weak transcription	Brain Substantia Nigra	brain
13	chr18:29709200-29718200	Weak transcription	K562	blood
14	chr18:29709200-29718400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr18:29709200-29718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr18:29709600-29716400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:29709600-29719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:29710800-29716200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:29711600-29718200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr18:29711600-29718400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr18:29712000-29718600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:29712400-29716000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:29712400-29716400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr18:29712400-29717200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:29712400-29717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:29712400-29718200	Weak transcription	Liver	Liver
27	chr18:29712400-29718400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:29712600-29717000	Weak transcription	Fetal Intestine Large	intestine
29	chr18:29712600-29717200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr18:29712600-29717600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:29712600-29718600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr18:29713600-29716000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr18:29713600-29717200	Weak transcription	GM12878-XiMat	blood
34	chr18:29713600-29717600	Weak transcription	Primary B cells from cord blood	blood
35	chr18:29713600-29718400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr18:29713800-29716800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:29713800-29716800	Weak transcription	Fetal Thymus	thymus
38	chr18:29713800-29718200	Weak transcription	Primary T cells from cord blood	blood
39	chr18:29713800-29718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:29714000-29716200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr18:29714000-29716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:29714200-29718600	Weak transcription	Thymus	Thymus
43	chr18:29714400-29718400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:29714800-29718200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:29714800-29720200	Weak transcription	Fetal Intestine Small	intestine
46	chr18:29715600-29715800	Enhancers	Fetal Heart	heart

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