Variant report

Variant	rs8094028
Chromosome Location	chr18:29712171-29712172
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	chr18:29703390..29707950-chr18:29711661..29715023,4	K562	blood:
2	chr18:29703952..29707950-chr18:29710554..29715618,4	K562	blood:

Variant related genes	Relation type
ENSG00000134758	Chromatin interaction
ENSG00000263393	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10775450	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2063288	0.87[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs4799325	0.87[CEU][hapmap]
rs4799329	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4799628	0.87[CEU][hapmap]
rs593234	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs8092272	0.88[EUR][1000 genomes]
rs9953463	0.84[CEU][hapmap];0.89[CHB][hapmap]
rs9955978	0.87[CEU][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8094028	RNF138	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29673400-29713800	Weak transcription	Spleen	Spleen
2	chr18:29673800-29714000	Weak transcription	Esophagus	oesophagus
3	chr18:29673800-29714200	Weak transcription	Ovary	ovary
4	chr18:29673800-29715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:29673800-29715200	Weak transcription	Lung	lung
6	chr18:29673800-29715800	Weak transcription	Colonic Mucosa	Colon
7	chr18:29673800-29717000	Weak transcription	HSMMtube	muscle
8	chr18:29675000-29717200	Weak transcription	NH-A	brain
9	chr18:29676800-29717200	Weak transcription	Brain Germinal Matrix	brain
10	chr18:29677000-29713800	Weak transcription	Small Intestine	intestine
11	chr18:29677000-29715600	Weak transcription	Fetal Heart	heart
12	chr18:29677000-29717000	Weak transcription	Aorta	Aorta
13	chr18:29687200-29713600	Strong transcription	Dnd41	blood
14	chr18:29688200-29712400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:29689400-29713600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr18:29689800-29713200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:29691000-29712400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:29691000-29712600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr18:29691200-29713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:29691400-29715000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:29691600-29713000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr18:29691800-29712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:29695200-29713200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:29695800-29715200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:29695800-29717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:29697000-29714200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:29699600-29715400	Weak transcription	Left Ventricle	heart
28	chr18:29701000-29712400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:29701800-29712400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr18:29702200-29712200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:29702200-29712200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr18:29702200-29712400	Strong transcription	Liver	Liver
33	chr18:29702200-29712600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:29702200-29713600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr18:29702400-29712400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:29702800-29712400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr18:29702800-29712400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr18:29703200-29712400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr18:29704000-29712200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr18:29704000-29713600	Strong transcription	Primary B cells from cord blood	blood
41	chr18:29704200-29714600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:29705400-29713800	Weak transcription	Brain Anterior Caudate	brain
43	chr18:29705400-29714000	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:29705400-29714200	Weak transcription	HUVEC	blood vessel
45	chr18:29705400-29715400	Weak transcription	Fetal Kidney	kidney
46	chr18:29705400-29716400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:29705400-29717800	Weak transcription	A549	lung
48	chr18:29705600-29713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr18:29705800-29713400	Weak transcription	Psoas Muscle	Psoas
50	chr18:29705800-29713400	Weak transcription	Thymus	Thymus

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