Variant report

Variant	rs9595952
Chromosome Location	chr13:49233267-49233268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1080084	0.80[AMR][1000 genomes]
rs11840566	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17071994	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2026581	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2026582	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2209084	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57517713	0.82[ASN][1000 genomes]
rs57542351	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60631683	0.82[ASN][1000 genomes]
rs6561472	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7339332	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74074980	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74074988	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74075000	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7985015	0.91[ASN][1000 genomes]
rs7997045	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8001963	0.91[ASN][1000 genomes]
rs9285169	0.96[ASN][1000 genomes]
rs9591186	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9591188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595938	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595940	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595941	0.96[AMR][1000 genomes]
rs9595942	0.96[AMR][1000 genomes]
rs9595947	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595955	0.97[ASN][1000 genomes]
rs9595958	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49228200-49234200	Weak transcription	GM12878-XiMat	blood
2	chr13:49229000-49234600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:49229000-49236800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:49229600-49234600	Weak transcription	Primary T cells from cord blood	blood
5	chr13:49229600-49235000	Weak transcription	Gastric	stomach
6	chr13:49229800-49234600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:49229800-49239400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr13:49230000-49234200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:49230000-49234400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:49230000-49234400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:49231200-49234200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:49231200-49234200	Weak transcription	Adipose Nuclei	Adipose
13	chr13:49231200-49234200	Weak transcription	Fetal Lung	lung
14	chr13:49231200-49234400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:49231200-49234400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49231400-49233400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:49231400-49234200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr13:49231400-49234200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:49231400-49234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:49231400-49234200	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:49231400-49235000	Enhancers	Dnd41	blood
22	chr13:49231600-49234000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:49232200-49235600	Enhancers	Placenta	Placenta
24	chr13:49232600-49233400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:49232600-49233400	Enhancers	Right Atrium	heart
26	chr13:49232600-49234800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr13:49232800-49234400	Weak transcription	Pancreas	Pancrea
28	chr13:49233000-49233400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr13:49233000-49234400	Enhancers	Primary neutrophils fromperipheralblood	blood

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