Variant report

Variant	rs4471557
Chromosome Location	chr13:40114173-40114174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1885760	1.00[ASN][1000 genomes]
rs1885762	0.97[ASN][1000 genomes]
rs2324333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324335	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4304917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941933	1.00[ASN][1000 genomes]
rs4941935	0.97[ASN][1000 genomes]
rs4943674	0.94[ASN][1000 genomes]
rs6563720	1.00[ASN][1000 genomes]
rs6563726	0.94[ASN][1000 genomes]
rs7335390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000471	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548807	0.97[ASN][1000 genomes]
rs9566448	0.97[ASN][1000 genomes]
rs978135	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1050137	chr13:40090742-40118499	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40106400-40116600	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:40106600-40117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:40110800-40115200	Weak transcription	Right Atrium	heart
6	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
7	chr13:40111400-40115200	Weak transcription	Left Ventricle	heart
8	chr13:40111400-40115200	Weak transcription	Right Ventricle	heart
9	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:40111600-40120600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:40111800-40117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:40112000-40117600	Weak transcription	NHEK	skin
14	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:40113000-40114200	Enhancers	Osteobl	bone
16	chr13:40113000-40115400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:40113400-40114200	Enhancers	Fetal Brain Male	brain
18	chr13:40113400-40114200	Enhancers	HSMM	muscle
19	chr13:40113400-40114400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:40113600-40114800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr13:40113600-40115200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr13:40113600-40115800	Enhancers	Fetal Heart	heart
23	chr13:40113800-40115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:40113800-40116400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:40113800-40128600	Weak transcription	Ovary	ovary
26	chr13:40114000-40115400	Weak transcription	NHDF-Ad	bronchial
27	chr13:40114000-40115600	Weak transcription	Adipose Nuclei	Adipose
28	chr13:40114000-40116400	Weak transcription	HSMMtube	muscle
29	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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