Variant report

Variant	rs57192075
Chromosome Location	chr8:121165959-121165960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59060195	0.93[AFR][1000 genomes]
rs59742638	0.83[AFR][1000 genomes]
rs73317774	0.93[AFR][1000 genomes]
rs73317779	0.82[AFR][1000 genomes]
rs73317783	0.81[AFR][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	chr8:121155400-121170600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:121159600-121166600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:121162400-121173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:121164800-121166400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:121165000-121166000	Enhancers	Fetal Lung	lung
9	chr8:121165000-121166800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:121165400-121166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:121165400-121166400	Enhancers	Placenta	Placenta
12	chr8:121165400-121166800	Enhancers	Ovary	ovary
13	chr8:121165400-121166800	Enhancers	Osteobl	bone
14	chr8:121165400-121167800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:121165600-121174600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:121165600-121176800	Weak transcription	Psoas Muscle	Psoas
17	chr8:121165800-121166600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:121165800-121166600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:121165800-121166800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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