Variant report

Variant	rs12804142
Chromosome Location	chr11:36659587-36659588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10400354	0.82[ASN][1000 genomes]
rs10836582	0.82[ASN][1000 genomes]
rs10836583	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11827987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12283331	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12419177	0.82[ASN][1000 genomes]
rs12807113	0.81[ASN][1000 genomes]
rs16926234	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929258	0.82[ASN][1000 genomes]
rs1818545	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3758874	0.82[ASN][1000 genomes]
rs7104753	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7113441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	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
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv518415	chr11:36644076-36661723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
5	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:36641400-36669600	Weak transcription	Ovary	ovary
7	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:36641600-36660400	Weak transcription	Fetal Stomach	stomach
9	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
10	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:36646400-36677000	Weak transcription	Lung	lung
12	chr11:36647600-36661200	Weak transcription	Pancreas	Pancrea
13	chr11:36648600-36661000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:36649400-36669400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:36650600-36687000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:36650800-36682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:36651000-36670000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:36651000-36671400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:36651000-36684000	Weak transcription	HSMMtube	muscle
22	chr11:36653600-36660200	Weak transcription	Fetal Lung	lung
23	chr11:36653600-36661000	Weak transcription	Fetal Thymus	thymus
24	chr11:36653600-36663400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:36653600-36669800	Weak transcription	Liver	Liver
26	chr11:36653600-36680800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:36653800-36669600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:36653800-36684400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:36654800-36669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:36656400-36680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:36656800-36669400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:36656800-36677800	Weak transcription	Psoas Muscle	Psoas
33	chr11:36657600-36660400	Weak transcription	Left Ventricle	heart
34	chr11:36657600-36670400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:36657800-36660000	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:36657800-36660200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:36658200-36660800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:36658200-36671600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:36658800-36660000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:36658800-36660400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:36659000-36660600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:36659200-36661200	Weak transcription	Thymus	Thymus

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