Variant report

Variant	rs11081741
Chromosome Location	chr18:29664528-29664529
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	chr18:29662644..29667608-chr18:29668028..29673014,9	K562	blood:
2	chr18:29661516..29666367-chr18:29670429..29672911,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11663563	0.82[MEX][hapmap]
rs12458548	0.82[EUR][1000 genomes]
rs12458851	0.91[MEX][hapmap]
rs1808891	0.91[MEX][hapmap]
rs3760568	0.80[EUR][1000 genomes]
rs4799326	0.82[CEU][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs4799629	0.82[CEU][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9676102	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2757673	chr18:29632749-29674992	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2758719	chr18:29632749-29674992	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv909520	chr18:29645496-29666127	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv909521	chr18:29645496-29671510	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv909522	chr18:29645496-29674992	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv909523	chr18:29645496-29679922	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1055457	chr18:29654978-29677371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11081741	RNF138	Cis_1M	lymphoblastoid	RTeQTL
rs11081741	RNF138	cis	multi-tissue	Pritchard

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
2	chr18:29640400-29664600	Weak transcription	Thymus	Thymus
3	chr18:29640600-29664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:29642600-29664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:29656000-29671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:29658600-29664600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:29662800-29665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:29663000-29665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:29663000-29665000	Enhancers	Adipose Nuclei	Adipose
10	chr18:29663200-29664800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr18:29663400-29665000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr18:29663600-29664800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:29663600-29665000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr18:29663800-29665000	Enhancers	Primary hematopoietic stem cells	blood
15	chr18:29663800-29665000	Enhancers	HUVEC	blood vessel
16	chr18:29663800-29665200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr18:29663800-29671400	Weak transcription	Fetal Kidney	kidney
18	chr18:29664000-29665000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr18:29664200-29664800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr18:29664200-29665000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr18:29664200-29665000	Enhancers	Primary B cells from cord blood	blood
22	chr18:29664200-29665000	Enhancers	Primary T cells from cord blood	blood
23	chr18:29664200-29665000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr18:29664200-29665000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr18:29664200-29665000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr18:29664200-29665000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr18:29664200-29665000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:29664200-29665000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr18:29664200-29665000	Enhancers	Dnd41	blood
30	chr18:29664200-29665200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr18:29664200-29665400	Enhancers	Stomach Mucosa	stomach
32	chr18:29664400-29664600	Enhancers	Left Ventricle	heart
33	chr18:29664400-29664800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr18:29664400-29664800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr18:29664400-29665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:29664400-29665000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:29664400-29665000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr18:29664400-29665000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:29664400-29665000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr18:29664400-29665000	Enhancers	Duodenum Mucosa	Duodenum
41	chr18:29664400-29665000	Enhancers	GM12878-XiMat	blood
42	chr18:29664400-29665200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr18:29664400-29665200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr18:29664400-29665200	Enhancers	Primary B cells from peripheral blood	blood
45	chr18:29664400-29665200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:29664400-29665200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:29664400-29665200	Enhancers	Liver	Liver
48	chr18:29664400-29665200	Enhancers	Fetal Muscle Leg	muscle
49	chr18:29664400-29665200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr18:29664400-29665400	Enhancers	HUES6 Cell Line	embryonic stem cell

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