Variant report

Variant	rs12547541
Chromosome Location	chr8:124601535-124601536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10089696	0.95[ASN][1000 genomes]
rs10091164	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10102942	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11776999	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547165	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13250678	0.89[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs13251106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13252512	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13261294	0.88[ASN][1000 genomes]
rs13266971	0.92[EUR][1000 genomes]
rs13273000	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35805809	0.85[EUR][1000 genomes]
rs4515533	0.97[ASN][1000 genomes]
rs4870857	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4870858	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124598400-124602200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:124599000-124602000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:124599200-124602400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:124599200-124604400	Weak transcription	HSMMtube	muscle
5	chr8:124599400-124604400	Weak transcription	HSMM	muscle
6	chr8:124599400-124604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
8	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon
9	chr8:124599600-124601800	Enhancers	Pancreas	Pancrea
10	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:124600200-124602400	Enhancers	Right Atrium	heart
12	chr8:124600400-124602000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:124600400-124602200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:124600400-124602200	Weak transcription	Left Ventricle	heart
15	chr8:124600400-124604400	Weak transcription	Psoas Muscle	Psoas
16	chr8:124600400-124604600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:124600600-124602000	Weak transcription	Fetal Heart	heart
18	chr8:124600600-124602400	Enhancers	Right Ventricle	heart
19	chr8:124600800-124602200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:124601000-124602800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:124601200-124601800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:124601200-124602400	Enhancers	HMEC	breast
23	chr8:124601200-124603800	Enhancers	K562	blood
24	chr8:124601200-124605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:124601400-124601800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:124601400-124602400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:124601400-124602600	Enhancers	NHLF	lung
28	chr8:124601400-124603400	Weak transcription	Aorta	Aorta
29	chr8:124601400-124605400	Enhancers	NHDF-Ad	bronchial
30	chr8:124601400-124607200	Enhancers	Osteobl	bone

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