Variant report

Variant	rs13169563
Chromosome Location	chr5:43054747-43054748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1032434	0.98[ASN][1000 genomes]
rs10454865	0.95[ASN][1000 genomes]
rs10941607	0.92[ASN][1000 genomes]
rs10941608	0.96[ASN][1000 genomes]
rs11550285	0.89[ASN][1000 genomes]
rs11550286	0.90[ASN][1000 genomes]
rs11550287	0.90[ASN][1000 genomes]
rs11740797	0.95[ASN][1000 genomes]
rs11742691	0.95[ASN][1000 genomes]
rs11748187	0.98[ASN][1000 genomes]
rs11949817	0.98[ASN][1000 genomes]
rs11956243	0.90[ASN][1000 genomes]
rs12188691	0.80[ASN][1000 genomes]
rs13155513	0.98[ASN][1000 genomes]
rs13159703	0.95[ASN][1000 genomes]
rs13165504	0.80[ASN][1000 genomes]
rs13173064	0.93[ASN][1000 genomes]
rs17301375	0.94[ASN][1000 genomes]
rs2452831	0.98[ASN][1000 genomes]
rs316405	0.98[ASN][1000 genomes]
rs316409	0.98[ASN][1000 genomes]
rs316410	0.98[ASN][1000 genomes]
rs316411	0.88[ASN][1000 genomes]
rs316418	0.93[ASN][1000 genomes]
rs3207358	0.98[ASN][1000 genomes]
rs34315422	0.93[ASN][1000 genomes]
rs34670023	0.92[ASN][1000 genomes]
rs34808919	0.98[ASN][1000 genomes]
rs34859360	0.93[ASN][1000 genomes]
rs35085573	0.95[ASN][1000 genomes]
rs35541316	0.98[ASN][1000 genomes]
rs36039989	0.90[ASN][1000 genomes]
rs36083302	0.93[ASN][1000 genomes]
rs3733839	0.98[ASN][1000 genomes]
rs3849699	0.80[ASN][1000 genomes]
rs493097	0.98[ASN][1000 genomes]
rs504404	0.86[ASN][1000 genomes]
rs56169202	0.80[ASN][1000 genomes]
rs581914	0.95[ASN][1000 genomes]
rs62367685	0.93[ASN][1000 genomes]
rs62367688	0.94[ASN][1000 genomes]
rs670206	0.95[ASN][1000 genomes]
rs6864223	0.90[ASN][1000 genomes]
rs7709181	0.94[ASN][1000 genomes]
rs7729529	0.94[ASN][1000 genomes]
rs9790935	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
9	nsv870299	chr5:43053679-43107880	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13169563	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43043600-43058200	Weak transcription	Gastric	stomach
2	chr5:43043600-43058200	Weak transcription	HSMMtube	muscle
3	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
5	chr5:43043600-43064000	Weak transcription	NHEK	skin
6	chr5:43043800-43057400	Weak transcription	Primary B cells from cord blood	blood
7	chr5:43043800-43058000	Weak transcription	HepG2	liver
8	chr5:43043800-43061200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:43043800-43064000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:43044800-43058200	Weak transcription	Lung	lung
11	chr5:43044800-43059400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:43044800-43064000	Weak transcription	Right Ventricle	heart
13	chr5:43044800-43064200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:43044800-43064400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:43045000-43061400	Weak transcription	NHLF	lung
16	chr5:43045000-43063800	Weak transcription	Adipose Nuclei	Adipose
17	chr5:43045000-43064200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:43045000-43064400	Weak transcription	Esophagus	oesophagus
19	chr5:43045400-43058600	Weak transcription	Pancreas	Pancrea
20	chr5:43045400-43061400	Weak transcription	Hela-S3	cervix
21	chr5:43045400-43064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
23	chr5:43045600-43058800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:43045600-43061000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:43045600-43063600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:43046600-43063800	Weak transcription	Left Ventricle	heart
27	chr5:43048200-43064200	Weak transcription	Psoas Muscle	Psoas
28	chr5:43049200-43064000	Weak transcription	Fetal Stomach	stomach
29	chr5:43049400-43061200	Weak transcription	HSMM	muscle
30	chr5:43049400-43061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:43049800-43058200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:43049800-43064400	Weak transcription	Fetal Lung	lung
33	chr5:43050000-43061400	Weak transcription	NH-A	brain
34	chr5:43050200-43058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:43050600-43061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:43050800-43058000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:43050800-43060800	Weak transcription	NHDF-Ad	bronchial
38	chr5:43050800-43064000	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:43051400-43064400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:43051600-43064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:43052600-43063800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:43053400-43056800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:43053400-43064000	Weak transcription	Primary T cells from cord blood	blood
44	chr5:43053600-43058000	Weak transcription	Osteobl	bone
45	chr5:43053600-43064000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:43053600-43064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:43053800-43056200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:43053800-43058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:43053800-43058000	Weak transcription	A549	lung
50	chr5:43053800-43058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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