Variant report

Variant	rs9595944
Chromosome Location	chr13:49199513-49199514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1009717	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1009718	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11840006	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12867213	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12871822	0.81[EUR][1000 genomes]
rs12874937	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1359108	0.90[ASN][1000 genomes]
rs1359109	0.90[ASN][1000 genomes]
rs1476406	0.82[EUR][1000 genomes]
rs1575920	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1854017	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2406937	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2406938	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406939	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35109670	0.89[ASN][1000 genomes]
rs4451857	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561469	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561471	0.87[ASN][1000 genomes]
rs6561474	0.92[ASN][1000 genomes]
rs7324562	0.94[ASN][1000 genomes]
rs7332030	0.83[ASN][1000 genomes]
rs7989287	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7990619	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7990660	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001736	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002035	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535059	0.85[ASN][1000 genomes]
rs9535060	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562833	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568056	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568058	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568059	0.83[ASN][1000 genomes]
rs9568061	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9568062	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568064	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568065	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568069	0.83[ASN][1000 genomes]
rs9591187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595945	0.83[ASN][1000 genomes]
rs9595950	0.87[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
rs9595944	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49196400-49199800	Weak transcription	Stomach Mucosa	stomach
2	chr13:49196600-49201800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:49196800-49205600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:49197400-49202000	Enhancers	Ovary	ovary
5	chr13:49197600-49202200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:49197800-49199800	Enhancers	Brain Hippocampus Middle	brain
7	chr13:49197800-49200400	Enhancers	Dnd41	blood
8	chr13:49197800-49202000	Enhancers	Placenta	Placenta
9	chr13:49198000-49205000	Enhancers	Fetal Intestine Large	intestine
10	chr13:49198200-49199800	Enhancers	Brain Cingulate Gyrus	brain
11	chr13:49198400-49200000	Enhancers	Brain Anterior Caudate	brain
12	chr13:49198400-49201200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:49199000-49199600	Enhancers	HepG2	liver
14	chr13:49199000-49200000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:49199000-49200800	Enhancers	Hela-S3	cervix
16	chr13:49199000-49201600	Enhancers	Adipose Nuclei	Adipose
17	chr13:49199000-49202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:49199000-49205000	Enhancers	Fetal Intestine Small	intestine
19	chr13:49199200-49200800	Bivalent Enhancer	HUVEC	blood vessel
20	chr13:49199200-49201000	Enhancers	Liver	Liver
21	chr13:49199200-49201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:49199400-49199600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:49199400-49199600	Enhancers	Fetal Heart	heart
24	chr13:49199400-49199600	Enhancers	Left Ventricle	heart
25	chr13:49199400-49199600	Enhancers	K562	blood
26	chr13:49199400-49200000	Enhancers	Pancreas	Pancrea
27	chr13:49199400-49200000	Enhancers	Right Atrium	heart
28	chr13:49199400-49200200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:49199400-49200200	Enhancers	Gastric	stomach
30	chr13:49199400-49200200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr13:49199400-49200800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr13:49199400-49200800	Enhancers	Duodenum Mucosa	Duodenum
33	chr13:49199400-49201000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:49199400-49201600	Enhancers	Fetal Kidney	kidney
35	chr13:49199400-49201600	Enhancers	NH-A	brain
36	chr13:49199400-49201800	Enhancers	Primary hematopoietic stem cells	blood

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