Variant report

Variant	rs1536395
Chromosome Location	chr13:49150879-49150880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1536394	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561466	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7332030	0.89[AFR][1000 genomes]
rs943284	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535039	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535041	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568036	1.00[CHB][hapmap];0.95[JPT][hapmap]

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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1536395	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49137200-49153000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:49143000-49153600	Weak transcription	Liver	Liver
4	chr13:49144000-49151400	Weak transcription	Lung	lung
5	chr13:49144800-49153000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr13:49145800-49152800	Weak transcription	Placenta	Placenta
7	chr13:49146000-49153200	Weak transcription	Stomach Mucosa	stomach
8	chr13:49146000-49153400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:49146000-49153800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:49146400-49154000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:49146800-49157400	Weak transcription	HSMMtube	muscle
12	chr13:49147400-49152800	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:49147600-49151000	Weak transcription	Fetal Stomach	stomach
14	chr13:49147600-49160800	Weak transcription	Thymus	Thymus
15	chr13:49148000-49153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:49148400-49153200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr13:49148400-49153800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:49148400-49153800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:49148400-49158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:49148400-49159000	Weak transcription	Pancreas	Pancrea
21	chr13:49148400-49160600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr13:49148600-49153000	Weak transcription	Adipose Nuclei	Adipose
23	chr13:49148600-49153800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr13:49148800-49151600	Weak transcription	Spleen	Spleen
25	chr13:49148800-49152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:49148800-49152800	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:49148800-49152800	Weak transcription	Right Atrium	heart
28	chr13:49148800-49153600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:49148800-49153800	Weak transcription	Brain Substantia Nigra	brain
30	chr13:49148800-49157800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:49149400-49151400	Weak transcription	Esophagus	oesophagus
32	chr13:49149400-49153200	Weak transcription	Left Ventricle	heart
33	chr13:49150000-49151000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:49150000-49151400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr13:49150000-49152800	Weak transcription	HepG2	liver
36	chr13:49150400-49151000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:49150400-49152000	Enhancers	Dnd41	blood
38	chr13:49150400-49152600	Enhancers	GM12878-XiMat	blood
39	chr13:49150400-49154200	Enhancers	Fetal Thymus	thymus
40	chr13:49150600-49159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:49150800-49151200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:49150800-49151600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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