Variant report

Variant	rs12292030
Chromosome Location	chr11:36640817-36640818
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11033707	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033711	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033722	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826342	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273143	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273195	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279290	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285096	0.80[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285668	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286658	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286882	0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151014	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120887	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs872814	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36616600-36657000	Weak transcription	Left Ventricle	heart
2	chr11:36626800-36641000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:36630400-36641000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:36630600-36649000	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:36633600-36656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:36639000-36641000	Enhancers	Colon Smooth Muscle	Colon
10	chr11:36639200-36641200	Enhancers	K562	blood
11	chr11:36639600-36641200	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:36639600-36642200	Flanking Active TSS	Dnd41	blood
13	chr11:36639800-36641400	Enhancers	Fetal Brain Female	brain
14	chr11:36639800-36641600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:36639800-36641800	Enhancers	Fetal Lung	lung
16	chr11:36639800-36642000	Enhancers	Fetal Brain Male	brain
17	chr11:36640000-36641400	Enhancers	Psoas Muscle	Psoas
18	chr11:36640000-36641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:36640000-36641600	Enhancers	Fetal Stomach	stomach
20	chr11:36640000-36641800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:36640200-36641000	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:36640200-36641600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:36640200-36642000	Enhancers	Fetal Kidney	kidney
24	chr11:36640400-36641200	Enhancers	Brain Substantia Nigra	brain
25	chr11:36640400-36641400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:36640400-36641400	Enhancers	Brain Anterior Caudate	brain
27	chr11:36640400-36641400	Enhancers	Osteobl	bone
28	chr11:36640400-36641800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:36640400-36642000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr11:36640400-36642000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:36640400-36648000	Weak transcription	HSMMtube	muscle
32	chr11:36640600-36641000	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr11:36640600-36641000	Weak transcription	Primary T cells from cord blood	blood
34	chr11:36640600-36641000	Weak transcription	Ovary	ovary
35	chr11:36640600-36641200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:36640600-36641200	Weak transcription	Right Ventricle	heart
37	chr11:36640600-36641600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:36640600-36641600	Enhancers	Fetal Heart	heart
39	chr11:36640600-36641600	Active TSS	Right Atrium	heart
40	chr11:36640600-36641600	Active TSS	Stomach Smooth Muscle	stomach
41	chr11:36640600-36642000	Active TSS	Fetal Thymus	thymus
42	chr11:36640600-36645000	Active TSS	Thymus	Thymus
43	chr11:36640600-36649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:36640800-36641000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:36640800-36641400	Enhancers	Adipose Nuclei	Adipose
46	chr11:36640800-36641600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:36640800-36641600	Enhancers	HSMM	muscle
48	chr11:36640800-36641800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr11:36640800-36669400	Weak transcription	Aorta	Aorta

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