Variant report

Variant	rs12518336
Chromosome Location	chr5:43181687-43181688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1690994	0.83[EUR][1000 genomes]
rs1690997	0.83[EUR][1000 genomes]
rs2453308	0.83[EUR][1000 genomes]
rs499436	0.80[EUR][1000 genomes]
rs512040	0.80[EUR][1000 genomes]
rs57689195	0.83[EUR][1000 genomes]
rs61004923	0.83[EUR][1000 genomes]
rs61121229	0.83[EUR][1000 genomes]
rs782972	0.81[EUR][1000 genomes]
rs782984	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12518336	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
2	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
4	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:43175000-43191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:43175200-43181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:43175200-43182000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:43175200-43182200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:43175200-43183600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:43175200-43190200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:43175200-43191000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:43175200-43191000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:43175200-43191000	Weak transcription	Brain Anterior Caudate	brain
16	chr5:43175200-43191000	Weak transcription	Ovary	ovary
17	chr5:43175200-43191000	Weak transcription	NHLF	lung
18	chr5:43175200-43191200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:43175200-43191200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:43175200-43191200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:43175200-43191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:43175200-43191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:43175400-43185000	Weak transcription	Psoas Muscle	Psoas
25	chr5:43175400-43190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:43175400-43191000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:43175400-43191400	Weak transcription	Fetal Brain Female	brain
28	chr5:43175400-43191400	Weak transcription	Fetal Kidney	kidney
29	chr5:43175400-43191600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:43175400-43191800	Weak transcription	Left Ventricle	heart
31	chr5:43175400-43191800	Weak transcription	Pancreas	Pancrea
32	chr5:43175400-43191800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:43175400-43192200	Weak transcription	HSMM	muscle
34	chr5:43175800-43184000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:43175800-43191400	Weak transcription	Brain Germinal Matrix	brain
36	chr5:43175800-43191600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:43176000-43191800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:43176800-43183800	Weak transcription	Fetal Intestine Large	intestine
39	chr5:43176800-43192200	Weak transcription	HSMMtube	muscle
40	chr5:43177800-43189800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:43177800-43191600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:43178000-43182600	Weak transcription	Dnd41	blood
43	chr5:43178000-43188400	Weak transcription	Fetal Thymus	thymus
44	chr5:43178000-43191600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:43178000-43191800	Weak transcription	Esophagus	oesophagus
46	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
47	chr5:43178200-43182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:43178200-43182600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:43178200-43182600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:43178200-43183800	Weak transcription	H9 Cell Line	embryonic stem cell

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