Variant report

Variant	rs7324562
Chromosome Location	chr13:49200704-49200705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009717	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1009718	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11840006	0.96[ASN][1000 genomes]
rs12867213	0.94[ASN][1000 genomes]
rs12870872	0.85[EUR][1000 genomes]
rs12871411	0.85[EUR][1000 genomes]
rs12874937	0.94[ASN][1000 genomes]
rs1359108	0.88[ASN][1000 genomes]
rs1359109	0.88[ASN][1000 genomes]
rs1575920	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1854017	0.93[ASN][1000 genomes]
rs2406937	0.93[ASN][1000 genomes]
rs2406938	0.94[ASN][1000 genomes]
rs2406939	0.94[ASN][1000 genomes]
rs35109670	0.83[ASN][1000 genomes]
rs4451857	0.93[ASN][1000 genomes]
rs6561469	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6561471	0.82[ASN][1000 genomes]
rs6561474	0.89[ASN][1000 genomes]
rs7332030	0.81[ASN][1000 genomes]
rs7989287	0.88[ASN][1000 genomes]
rs7990619	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7990660	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8001736	0.94[ASN][1000 genomes]
rs8002035	0.94[ASN][1000 genomes]
rs9535060	0.94[ASN][1000 genomes]
rs9535061	0.85[EUR][1000 genomes]
rs9562833	0.93[ASN][1000 genomes]
rs9568056	0.93[ASN][1000 genomes]
rs9568058	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568061	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9568062	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568064	0.94[ASN][1000 genomes]
rs9568065	0.94[ASN][1000 genomes]
rs9568069	0.81[ASN][1000 genomes]
rs9591187	0.94[ASN][1000 genomes]
rs9595943	0.94[ASN][1000 genomes]
rs9595944	0.94[ASN][1000 genomes]
rs9595945	0.81[ASN][1000 genomes]
rs9595950	0.85[ASN][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	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
2	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
3	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
4	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
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3495983	chr13:49181790-49222165	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495984	chr13:49181790-49222165	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7324562	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49196600-49201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:49196800-49205600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:49197400-49202000	Enhancers	Ovary	ovary
4	chr13:49197600-49202200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:49197800-49202000	Enhancers	Placenta	Placenta
6	chr13:49198000-49205000	Enhancers	Fetal Intestine Large	intestine
7	chr13:49198400-49201200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:49199000-49200800	Enhancers	Hela-S3	cervix
9	chr13:49199000-49201600	Enhancers	Adipose Nuclei	Adipose
10	chr13:49199000-49202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:49199000-49205000	Enhancers	Fetal Intestine Small	intestine
12	chr13:49199200-49200800	Bivalent Enhancer	HUVEC	blood vessel
13	chr13:49199200-49201000	Enhancers	Liver	Liver
14	chr13:49199200-49201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:49199400-49200800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr13:49199400-49200800	Enhancers	Duodenum Mucosa	Duodenum
17	chr13:49199400-49201000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:49199400-49201600	Enhancers	Fetal Kidney	kidney
19	chr13:49199400-49201600	Enhancers	NH-A	brain
20	chr13:49199400-49201800	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:49199600-49201200	Enhancers	Fetal Lung	lung
22	chr13:49199600-49201200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr13:49199600-49201400	Weak transcription	Fetal Heart	heart
24	chr13:49199600-49202000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:49199600-49202000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:49199800-49202000	Enhancers	Stomach Mucosa	stomach
27	chr13:49199800-49204200	Weak transcription	Aorta	Aorta
28	chr13:49200000-49201000	Weak transcription	Pancreas	Pancrea
29	chr13:49200000-49201200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:49200000-49201400	Weak transcription	Right Atrium	heart
31	chr13:49200000-49201600	Enhancers	K562	blood
32	chr13:49200200-49201000	Weak transcription	Gastric	stomach
33	chr13:49200200-49201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:49200200-49201200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr13:49200200-49203200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr13:49200200-49203200	Enhancers	HepG2	liver
37	chr13:49200400-49202000	Flanking Active TSS	Dnd41	blood
38	chr13:49200600-49200800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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