Variant report

Variant	rs13270370
Chromosome Location	chr8:124594184-124594185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10104547	0.93[ASN][1000 genomes]
rs12543411	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2891781	0.93[ASN][1000 genomes]
rs34557926	0.93[ASN][1000 genomes]
rs35534969	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4391415	0.95[ASN][1000 genomes]
rs7005778	0.84[ASN][1000 genomes]
rs7006122	0.84[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124590800-124597000	Weak transcription	HSMMtube	muscle
3	chr8:124591000-124594600	Enhancers	Fetal Intestine Small	intestine
4	chr8:124591600-124594200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:124591600-124594400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:124591800-124594200	Enhancers	Osteobl	bone
7	chr8:124592400-124594400	Enhancers	Fetal Intestine Large	intestine
8	chr8:124592800-124594200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:124592800-124596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:124593000-124595800	Weak transcription	HMEC	breast
11	chr8:124593200-124594400	Enhancers	Psoas Muscle	Psoas
12	chr8:124594000-124597000	Weak transcription	Fetal Heart	heart

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

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