Variant report

Variant	rs60287310
Chromosome Location	chr11:36680225-36680226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36679095..36680749-chr11:36687022..36689455,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12290480	1.00[EUR][1000 genomes]
rs1515062	1.00[EUR][1000 genomes]
rs1581279	1.00[EUR][1000 genomes]
rs2173394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230485	1.00[EUR][1000 genomes]
rs2458930	1.00[EUR][1000 genomes]
rs2673017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2673018	1.00[EUR][1000 genomes]
rs331431	1.00[EUR][1000 genomes]
rs331438	1.00[EUR][1000 genomes]
rs331451	1.00[EUR][1000 genomes]
rs331452	1.00[EUR][1000 genomes]
rs331458	1.00[EUR][1000 genomes]
rs331461	1.00[EUR][1000 genomes]
rs331473	1.00[EUR][1000 genomes]
rs34340782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34392904	1.00[EUR][1000 genomes]
rs34574486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34608958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs496289	1.00[EUR][1000 genomes]
rs505296	1.00[EUR][1000 genomes]
rs520074	1.00[EUR][1000 genomes]
rs60225227	1.00[EUR][1000 genomes]
rs61475582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6484862	1.00[EUR][1000 genomes]
rs692743	1.00[EUR][1000 genomes]
rs693068	1.00[EUR][1000 genomes]
rs7108013	1.00[EUR][1000 genomes]
rs7109588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117414	1.00[EUR][1000 genomes]
rs7125448	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
4	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:36650600-36687000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:36650800-36682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:36651000-36684000	Weak transcription	HSMMtube	muscle
9	chr11:36653600-36680800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:36653800-36684400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:36656400-36680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:36660800-36685800	Weak transcription	Fetal Stomach	stomach
13	chr11:36661400-36681200	Weak transcription	Gastric	stomach
14	chr11:36661600-36681200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:36666800-36692800	Weak transcription	Fetal Heart	heart
16	chr11:36667400-36680800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:36668000-36683800	Weak transcription	Brain Germinal Matrix	brain
18	chr11:36668200-36680600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:36668200-36680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:36668200-36681000	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:36669600-36680600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:36669800-36685600	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:36670200-36682600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:36670600-36680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:36670600-36680600	Weak transcription	Fetal Lung	lung
26	chr11:36670600-36680600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:36670600-36680800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:36670600-36680800	Weak transcription	Left Ventricle	heart
29	chr11:36670600-36680800	Weak transcription	Ovary	ovary
30	chr11:36670600-36682800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:36670800-36680800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:36670800-36683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:36671000-36680600	Weak transcription	Adipose Nuclei	Adipose
34	chr11:36671000-36683800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:36671800-36680600	Weak transcription	Liver	Liver
36	chr11:36671800-36681400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:36672000-36680600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:36675800-36680600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:36679000-36680800	Weak transcription	Aorta	Aorta
40	chr11:36679200-36680800	Weak transcription	Thymus	Thymus
41	chr11:36679400-36680400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:36679400-36680400	Enhancers	Dnd41	blood
43	chr11:36679400-36682800	Weak transcription	Brain Angular Gyrus	brain
44	chr11:36679600-36680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:36679600-36682400	Weak transcription	Fetal Brain Male	brain
46	chr11:36679600-36687000	Weak transcription	K562	blood
47	chr11:36679800-36680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:36680200-36680800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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