Variant report

Variant	rs12859043
Chromosome Location	chr13:76343498-76343499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10507834	1.00[ASN][1000 genomes]
rs12871921	0.86[ASN][1000 genomes]
rs12877821	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1323570	0.86[ASN][1000 genomes]
rs1470273	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17065026	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17065046	1.00[ASN][1000 genomes]
rs17065126	0.86[ASN][1000 genomes]
rs17065132	0.86[ASN][1000 genomes]
rs34083520	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34295825	1.00[ASN][1000 genomes]
rs34348643	1.00[ASN][1000 genomes]
rs34713814	1.00[ASN][1000 genomes]
rs34782398	1.00[ASN][1000 genomes]
rs35034793	0.86[ASN][1000 genomes]
rs35353403	1.00[ASN][1000 genomes]
rs35843177	1.00[ASN][1000 genomes]
rs4884019	1.00[ASN][1000 genomes]
rs4884020	1.00[ASN][1000 genomes]
rs4885347	1.00[ASN][1000 genomes]
rs4885350	1.00[ASN][1000 genomes]
rs579540	0.86[ASN][1000 genomes]
rs71434807	1.00[ASN][1000 genomes]
rs71434809	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76334800-76343600	Genic enhancers	Osteobl	bone
4	chr13:76337000-76344400	Weak transcription	Ovary	ovary
5	chr13:76337400-76344200	Weak transcription	Placenta	Placenta
6	chr13:76337400-76347600	Weak transcription	Gastric	stomach
7	chr13:76337600-76344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:76338000-76344600	Weak transcription	HMEC	breast
9	chr13:76338000-76344600	Weak transcription	NHEK	skin
10	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
11	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
12	chr13:76338600-76343800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr13:76338600-76345000	Weak transcription	Colonic Mucosa	Colon
14	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
15	chr13:76338800-76343800	Enhancers	A549	lung
16	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
17	chr13:76339000-76348200	Enhancers	Fetal Intestine Small	intestine
18	chr13:76339800-76344600	Weak transcription	Fetal Heart	heart
19	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
20	chr13:76340200-76343600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:76340200-76343800	Strong transcription	HSMM	muscle
22	chr13:76340200-76344200	Weak transcription	Fetal Lung	lung
23	chr13:76340200-76347200	Weak transcription	Pancreas	Pancrea
24	chr13:76340200-76349200	Enhancers	NHDF-Ad	bronchial
25	chr13:76340600-76344400	Weak transcription	NH-A	brain
26	chr13:76340800-76344200	Weak transcription	Small Intestine	intestine
27	chr13:76340800-76347200	Enhancers	HepG2	liver
28	chr13:76341000-76343800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:76341200-76346000	Weak transcription	HUVEC	blood vessel
30	chr13:76341800-76343800	Enhancers	Hela-S3	cervix
31	chr13:76341800-76352800	Weak transcription	Primary T cells from cord blood	blood
32	chr13:76342000-76344200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:76342000-76346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:76342200-76344000	Weak transcription	Stomach Mucosa	stomach
35	chr13:76342200-76344400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:76342200-76344400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr13:76342400-76357800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr13:76343000-76343600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr13:76343000-76345200	Enhancers	Duodenum Mucosa	Duodenum
40	chr13:76343000-76345800	Enhancers	NHLF	lung
41	chr13:76343000-76348200	Enhancers	Fetal Intestine Large	intestine
42	chr13:76343000-76349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:76343200-76344000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:76343200-76344400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:76343200-76345000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:76343200-76345800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:76343200-76346800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:76343400-76343600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:76343400-76343600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr13:76343400-76344600	Enhancers	Psoas Muscle	Psoas

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