Variant report

Variant	rs12791136
Chromosome Location	chr11:108463986-108463987
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108339716..108342136-chr11:108463362..108464955,2	K562	blood:
2	chr11:108092600..108095376-chr11:108462934..108465266,2	MCF-7	breast:
3	chr11:108367402..108370460-chr11:108461670..108466033,4	K562	blood:
4	chr11:107992260..107994270-chr11:108463431..108465424,2	K562	blood:
5	chr11:108365650..108370333-chr11:108462736..108466617,7	K562	blood:
6	chr11:108366826..108370827-chr11:108463038..108466989,6	MCF-7	breast:
7	chr11:108332332..108333917-chr11:108462867..108465354,2	K562	blood:
8	chr11:108091790..108094967-chr11:108462852..108466169,3	K562	blood:
9	chr11:108422127..108426041-chr11:108463043..108466411,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166323	Chromatin interaction
ENSG00000255467	Chromatin interaction
ENSG00000149311	Chromatin interaction
ENSG00000221607	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000075239	Chromatin interaction
ENSG00000149308	Chromatin interaction
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10466558	0.81[EUR][1000 genomes]
rs1072877	0.81[EUR][1000 genomes]
rs10890863	0.91[EUR][1000 genomes]
rs10890865	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890866	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11212723	0.81[EUR][1000 genomes]
rs11212726	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11820265	0.91[EUR][1000 genomes]
rs12575739	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12799294	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2086592	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34403786	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55732976	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7105022	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12791136	EXPH5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108462200-108464400	Active TSS	Placenta Amnion	Placenta Amnion
2	chr11:108462600-108464800	Active TSS	Brain Anterior Caudate	brain
3	chr11:108462600-108465000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr11:108462800-108464400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:108462800-108464800	Active TSS	Fetal Kidney	kidney
6	chr11:108462800-108465000	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:108463000-108464400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:108463000-108464600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:108463000-108464600	Active TSS	HSMMtube	muscle
10	chr11:108463200-108464200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:108463200-108464800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:108463200-108465000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:108463200-108465200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:108463400-108464000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr11:108463400-108464000	Flanking Active TSS	Left Ventricle	heart
16	chr11:108463400-108464200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:108463400-108464200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:108463400-108464400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:108463400-108464600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:108463400-108464600	Active TSS	Esophagus	oesophagus
21	chr11:108463400-108464600	Bivalent/Poised TSS	Fetal Lung	lung
22	chr11:108463400-108464600	Active TSS	Stomach Mucosa	stomach
23	chr11:108463400-108464600	Active TSS	Hela-S3	cervix
24	chr11:108463400-108464600	Active TSS	HSMM	muscle
25	chr11:108463400-108464800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:108463400-108464800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:108463400-108464800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:108463400-108464800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:108463400-108464800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:108463400-108464800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:108463400-108464800	Active TSS	Aorta	Aorta
32	chr11:108463400-108464800	Active TSS	Brain Angular Gyrus	brain
33	chr11:108463400-108464800	Active TSS	Colon Smooth Muscle	Colon
34	chr11:108463400-108464800	Active TSS	Right Ventricle	heart
35	chr11:108463400-108464800	Active TSS	NHEK	skin
36	chr11:108463400-108464800	Bivalent/Poised TSS	Osteobl	bone
37	chr11:108463400-108465000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:108463400-108465000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:108463400-108465000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:108463400-108465000	Active TSS	Right Atrium	heart
41	chr11:108463400-108465000	Flanking Bivalent TSS/Enh	Dnd41	blood
42	chr11:108463600-108464000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr11:108463600-108464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:108463600-108464000	Bivalent Enhancer	Fetal Brain Male	brain
45	chr11:108463600-108464000	Flanking Active TSS	Psoas Muscle	Psoas
46	chr11:108463600-108464200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:108463600-108464200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr11:108463600-108464200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:108463600-108464400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:108463600-108464400	Active TSS	Small Intestine	intestine

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