Variant report

Variant	rs12362602
Chromosome Location	chr11:63908660-63908661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63907528..63910274-chr11:63911901..63915955,5	K562	blood:
2	chr11:63754724..63756802-chr11:63908470..63911045,2	MCF-7	breast:
3	chr11:63906755..63909220-chr11:63909551..63912410,2	MCF-7	breast:
4	chr11:63903242..63905220-chr11:63906631..63909322,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11231722	0.88[EUR][1000 genomes]
rs12787945	0.87[EUR][1000 genomes]
rs17699798	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236647	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236648	0.88[EUR][1000 genomes]
rs2701533	0.92[EUR][1000 genomes]
rs2875748	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4980524	0.88[EUR][1000 genomes]
rs645461	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7938819	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7948329	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs882147	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
3	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
4	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
7	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
8	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
9	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
10	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
11	nsv356	chr11:63868847-63913129	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12362602	TRPT1	cis	Muscle Skeletal	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63885600-63911200	Weak transcription	Gastric	stomach
2	chr11:63890600-63913600	Weak transcription	Esophagus	oesophagus
3	chr11:63892000-63915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:63895800-63920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:63896600-63909000	Weak transcription	Adipose Nuclei	Adipose
6	chr11:63897200-63918400	Weak transcription	Dnd41	blood
7	chr11:63898800-63916400	Weak transcription	Hela-S3	cervix
8	chr11:63900200-63931800	Weak transcription	Lung	lung
9	chr11:63900400-63916000	Weak transcription	Fetal Intestine Large	intestine
10	chr11:63900800-63916200	Weak transcription	Liver	Liver
11	chr11:63901000-63908800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:63901200-63909000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:63902000-63916600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:63902800-63915600	Weak transcription	Fetal Intestine Small	intestine
15	chr11:63903600-63915600	Weak transcription	Left Ventricle	heart
16	chr11:63904200-63908800	Weak transcription	Psoas Muscle	Psoas
17	chr11:63904200-63913400	Weak transcription	K562	blood
18	chr11:63905600-63909600	Enhancers	Brain Germinal Matrix	brain
19	chr11:63906000-63908800	Weak transcription	Right Ventricle	heart
20	chr11:63906000-63909600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:63906200-63913400	Weak transcription	Pancreas	Pancrea
22	chr11:63906800-63909000	Weak transcription	Spleen	Spleen
23	chr11:63906800-63911400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:63906800-63912200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:63907000-63908800	Weak transcription	Fetal Brain Male	brain
26	chr11:63907000-63915400	Weak transcription	Fetal Heart	heart
27	chr11:63907000-63915600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:63907000-63915600	Weak transcription	Fetal Brain Female	brain
29	chr11:63907600-63909400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:63907800-63908800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:63907800-63909600	Enhancers	Brain Anterior Caudate	brain
32	chr11:63908000-63908800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:63908000-63908800	Weak transcription	Fetal Stomach	stomach
34	chr11:63908000-63909800	Enhancers	Colon Smooth Muscle	Colon
35	chr11:63908200-63909600	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:63908200-63909800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:63908400-63908800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:63908400-63908800	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:63908400-63909200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:63908400-63909600	Enhancers	Brain Hippocampus Middle	brain
41	chr11:63908600-63909400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:63908600-63909400	Enhancers	Ovary	ovary
43	chr11:63908600-63909600	Enhancers	Fetal Muscle Leg	muscle
44	chr11:63908600-63909800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr11:63908600-63910200	Strong transcription	HepG2	liver

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