Variant report

Variant	rs13250678
Chromosome Location	chr8:124599469-124599470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10089696	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091164	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776999	0.97[ASN][1000 genomes]
rs12547165	0.98[ASN][1000 genomes]
rs12547541	0.97[ASN][1000 genomes]
rs13251106	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs13252512	0.88[ASN][1000 genomes]
rs13256524	0.82[EUR][1000 genomes]
rs13261294	0.88[ASN][1000 genomes]
rs13264867	0.82[EUR][1000 genomes]
rs13266630	0.82[EUR][1000 genomes]
rs13273000	0.88[ASN][1000 genomes]
rs2385450	0.83[AMR][1000 genomes]
rs4388446	0.81[CEU][hapmap]
rs4515533	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870857	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4870858	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124597400-124599800	Weak transcription	Fetal Heart	heart
2	chr8:124598400-124602200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:124598600-124601400	Enhancers	Aorta	Aorta
4	chr8:124598800-124601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:124599000-124602000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:124599200-124601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:124599200-124601400	Weak transcription	NHDF-Ad	bronchial
8	chr8:124599200-124602400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:124599200-124604400	Weak transcription	HSMMtube	muscle
10	chr8:124599400-124600400	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:124599400-124601200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:124599400-124601200	Weak transcription	HMEC	breast
13	chr8:124599400-124601200	Weak transcription	NH-A	brain
14	chr8:124599400-124601400	Weak transcription	Osteobl	bone
15	chr8:124599400-124604400	Weak transcription	HSMM	muscle
16	chr8:124599400-124604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
18	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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