Variant report

Variant	rs73319711
Chromosome Location	chr8:121173286-121173287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35420329	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398968	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4541974	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73317765	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73317770	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73317791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816925	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840217	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121154600-121173800	Weak transcription	Fetal Stomach	stomach
2	chr8:121154600-121175200	Weak transcription	Aorta	Aorta
3	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:121165600-121174600	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:121165600-121176800	Weak transcription	Psoas Muscle	Psoas
6	chr8:121166400-121177000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:121166400-121177600	Weak transcription	Placenta	Placenta
8	chr8:121166800-121176000	Weak transcription	Ovary	ovary
9	chr8:121166800-121176800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:121167000-121178000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:121168400-121174600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:121169200-121173800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:121170800-121179600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:121172600-121175000	Enhancers	Fetal Lung	lung
15	chr8:121172600-121178400	Enhancers	Fetal Intestine Small	intestine
16	chr8:121172800-121173600	Weak transcription	Fetal Intestine Large	intestine
17	chr8:121173200-121174000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:121173200-121174200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121173200-121175400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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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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