Variant report

Variant	rs9576843
Chromosome Location	chr13:40113293-40113294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1002461	1.00[EUR][1000 genomes]
rs17060174	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060332	1.00[EUR][1000 genomes]
rs73466901	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315699	1.00[ASN][1000 genomes]
rs9566449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9566453	1.00[ASN][1000 genomes]
rs9566454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576829	1.00[EUR][1000 genomes]
rs9576830	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9576831	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576832	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9576833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576834	0.85[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576836	0.88[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576841	0.88[CHB][hapmap];1.00[ASN][1000 genomes]
rs9576842	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576854	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576861	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9576862	1.00[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40106400-40113400	Weak transcription	HSMM	muscle
2	chr13:40106400-40113600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:40106400-40116600	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:40106600-40113400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:40106600-40117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:40109000-40113600	Weak transcription	Fetal Brain Female	brain
9	chr13:40109000-40114000	Enhancers	NHDF-Ad	bronchial
10	chr13:40110800-40113600	Weak transcription	Esophagus	oesophagus
11	chr13:40110800-40115200	Weak transcription	Right Atrium	heart
12	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
13	chr13:40111400-40113400	Weak transcription	Ovary	ovary
14	chr13:40111400-40113600	Weak transcription	Adipose Nuclei	Adipose
15	chr13:40111400-40115200	Weak transcription	Left Ventricle	heart
16	chr13:40111400-40115200	Weak transcription	Right Ventricle	heart
17	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:40111600-40113400	Weak transcription	Psoas Muscle	Psoas
19	chr13:40111600-40113400	Weak transcription	NHLF	lung
20	chr13:40111600-40120600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:40111800-40117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:40112000-40117600	Weak transcription	NHEK	skin
24	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:40112800-40113600	Weak transcription	Fetal Heart	heart
26	chr13:40112800-40113600	Weak transcription	HSMMtube	muscle
27	chr13:40113000-40113400	Weak transcription	Fetal Brain Male	brain
28	chr13:40113000-40113600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:40113000-40113800	Enhancers	NH-A	brain
30	chr13:40113000-40114200	Enhancers	Osteobl	bone
31	chr13:40113000-40115400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:40113200-40113400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:40113200-40113800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:40113200-40113800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:40113200-40113800	Enhancers	Colon Smooth Muscle	Colon
36	chr13:40113200-40113800	Enhancers	Fetal Lung	lung
37	chr13:40113200-40113800	Enhancers	HMEC	breast

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