Variant report

Variant	rs482331
Chromosome Location	chr11:62595330-62595331
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:62595309-62595413	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000256690	TF binding region
STX5	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	0.82[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730033	1.00[AMR][1000 genomes]
rs2956139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs486451	0.82[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs489275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963309	0.82[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560006	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560603	1.00[AMR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561520	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572513	0.82[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs577071	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487834	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs482331	C11orf48	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62580200-62596400	Strong transcription	Fetal Muscle Leg	muscle
2	chr11:62580600-62596400	Strong transcription	Placenta	Placenta
3	chr11:62580600-62597000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:62580600-62597000	Strong transcription	Fetal Intestine Small	intestine
5	chr11:62580600-62597600	Strong transcription	Osteobl	bone
6	chr11:62580600-62598000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:62580800-62595600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:62580800-62596000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:62580800-62596600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:62580800-62597600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:62581000-62595800	Strong transcription	Liver	Liver
12	chr11:62581000-62596400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:62581000-62596400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:62581000-62596600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:62581000-62597200	Strong transcription	Fetal Intestine Large	intestine
16	chr11:62581200-62597000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62581200-62597600	Strong transcription	Fetal Stomach	stomach
18	chr11:62581400-62595800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:62581600-62595600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:62581600-62595600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:62581600-62596600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:62581800-62596600	Strong transcription	Fetal Thymus	thymus
23	chr11:62582000-62595400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:62583200-62595800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr11:62583200-62595800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:62583200-62596000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:62583400-62595400	Strong transcription	NH-A	brain
28	chr11:62583400-62596000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:62583400-62596000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:62583400-62596000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:62583400-62597000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:62585200-62597200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:62585400-62595600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:62586000-62596800	Strong transcription	Brain Hippocampus Middle	brain
35	chr11:62586000-62597000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:62586200-62595400	Strong transcription	Fetal Brain Female	brain
37	chr11:62586200-62595400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:62586200-62596600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:62586200-62596800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:62586400-62597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:62586600-62595800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:62586600-62596800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:62586800-62595400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:62586800-62595400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:62586800-62595800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:62586800-62595800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr11:62586800-62595800	Strong transcription	Brain Angular Gyrus	brain
48	chr11:62586800-62595800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:62586800-62595800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:62586800-62596000	Strong transcription	Brain Germinal Matrix	brain

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