Variant report

Variant	rs12279091
Chromosome Location	chr11:36424967-36424968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11033593	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033595	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033599	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033600	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033603	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11033612	0.92[EUR][1000 genomes]
rs11602467	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12270539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12270739	0.87[ASN][1000 genomes]
rs12290256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12295535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1365121	0.96[EUR][1000 genomes]
rs28520436	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56403503	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs734429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7924917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12279091	TRIM44	cis	lymphoblastoid	seeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
2	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
3	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:36403000-36438200	Weak transcription	Ovary	ovary
8	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
10	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:36409800-36430000	Weak transcription	Liver	Liver
12	chr11:36412000-36427600	Weak transcription	Placenta	Placenta
13	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
14	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
15	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:36413800-36428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:36414200-36426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:36414800-36428800	Weak transcription	Stomach Mucosa	stomach
19	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:36415000-36429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:36415400-36429400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:36416600-36431600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:36417600-36429000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:36418200-36425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
26	chr11:36418400-36426000	Weak transcription	Fetal Lung	lung
27	chr11:36418400-36426000	Weak transcription	HSMM	muscle
28	chr11:36419400-36428800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:36419600-36430000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr11:36419800-36426400	Genic enhancers	Fetal Intestine Large	intestine
31	chr11:36419800-36429200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:36420200-36429000	Strong transcription	NHEK	skin
33	chr11:36420200-36431800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:36420400-36430600	Weak transcription	Lung	lung
37	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:36421000-36425200	Strong transcription	NH-A	brain
41	chr11:36421000-36425800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:36421200-36425000	Weak transcription	Brain Angular Gyrus	brain
43	chr11:36421400-36428400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:36421400-36432400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:36421400-36435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:36421800-36425600	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:36421800-36432600	Weak transcription	Brain Anterior Caudate	brain
48	chr11:36422200-36425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:36422200-36425800	Weak transcription	Fetal Brain Male	brain
50	chr11:36422400-36430600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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