Variant report

Variant	rs1105593
Chromosome Location	chr11:36642373-36642374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10836583	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11827987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12283331	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12804142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498336	0.82[ASN][1000 genomes]
rs1498338	0.82[ASN][1000 genomes]
rs16926234	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16929258	0.81[JPT][hapmap]
rs1818545	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2227973	0.80[JPT][hapmap]
rs7104753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7942300	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	esv1850719	chr11:36616867-36657272	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36616600-36657000	Weak transcription	Left Ventricle	heart
2	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:36630600-36649000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:36633600-36656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:36640400-36648000	Weak transcription	HSMMtube	muscle
8	chr11:36640600-36645000	Active TSS	Thymus	Thymus
9	chr11:36640600-36649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
11	chr11:36641400-36642800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:36641400-36650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:36641400-36650600	Weak transcription	Right Ventricle	heart
14	chr11:36641400-36652600	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:36641400-36669600	Weak transcription	Ovary	ovary
17	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
18	chr11:36641600-36646000	Weak transcription	Fetal Heart	heart
19	chr11:36641600-36653000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:36641600-36660400	Weak transcription	Fetal Stomach	stomach
21	chr11:36642000-36642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:36642000-36643000	Weak transcription	Fetal Thymus	thymus
23	chr11:36642000-36650200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:36642000-36655000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:36642000-36655200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
27	chr11:36642200-36642600	Enhancers	Dnd41	blood
28	chr11:36642200-36649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:36642200-36650000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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