Variant report

Variant	rs9591188
Chromosome Location	chr13:49199741-49199742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11840566	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17071994	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026582	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209084	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57517713	0.81[ASN][1000 genomes]
rs57542351	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60631683	0.81[ASN][1000 genomes]
rs6561472	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7339332	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74074980	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074988	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74075000	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7985015	0.94[ASN][1000 genomes]
rs7997045	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001963	0.88[ASN][1000 genomes]
rs9285169	0.93[ASN][1000 genomes]
rs9591186	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595938	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595940	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595941	0.86[AMR][1000 genomes]
rs9595942	0.86[AMR][1000 genomes]
rs9595947	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595952	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595955	0.94[ASN][1000 genomes]
rs9595958	0.94[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

No data

Chromatin state (count:41 , 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	chr13:49199000-49200000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:49199000-49200800	Enhancers	Hela-S3	cervix
15	chr13:49199000-49201600	Enhancers	Adipose Nuclei	Adipose
16	chr13:49199000-49202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:49199000-49205000	Enhancers	Fetal Intestine Small	intestine
18	chr13:49199200-49200800	Bivalent Enhancer	HUVEC	blood vessel
19	chr13:49199200-49201000	Enhancers	Liver	Liver
20	chr13:49199200-49201800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:49199400-49200000	Enhancers	Pancreas	Pancrea
22	chr13:49199400-49200000	Enhancers	Right Atrium	heart
23	chr13:49199400-49200200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:49199400-49200200	Enhancers	Gastric	stomach
25	chr13:49199400-49200200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr13:49199400-49200800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr13:49199400-49200800	Enhancers	Duodenum Mucosa	Duodenum
28	chr13:49199400-49201000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:49199400-49201600	Enhancers	Fetal Kidney	kidney
30	chr13:49199400-49201600	Enhancers	NH-A	brain
31	chr13:49199400-49201800	Enhancers	Primary hematopoietic stem cells	blood
32	chr13:49199600-49199800	Enhancers	Aorta	Aorta
33	chr13:49199600-49200000	Flanking Active TSS	K562	blood
34	chr13:49199600-49200200	Flanking Active TSS	HepG2	liver
35	chr13:49199600-49200200	Enhancers	Osteobl	bone
36	chr13:49199600-49200600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:49199600-49201200	Enhancers	Fetal Lung	lung
38	chr13:49199600-49201200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr13:49199600-49201400	Weak transcription	Fetal Heart	heart
40	chr13:49199600-49202000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:49199600-49202000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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