Variant report

Variant	rs73703990
Chromosome Location	chr8:125215076-125215077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125214674..125216919-chr8:125220846..125223864,3	MCF-7	breast:
2	chr8:125050056..125052985-chr8:125210899..125215246,3	MCF-7	breast:
3	chr8:125214006..125215805-chr8:125384508..125386541,2	MCF-7	breast:
4	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254249	Chromatin interaction
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11988179	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16899395	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56187466	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56245137	0.83[AMR][1000 genomes]
rs56348823	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59692764	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61668924	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6470232	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6470234	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73703992	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3414977	chr8:125214967-125215243	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125210200-125215400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:125211200-125215200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:125212800-125215200	Enhancers	HUVEC	blood vessel
4	chr8:125213400-125216600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:125213400-125216800	Enhancers	A549	lung
6	chr8:125213400-125219400	Weak transcription	HSMMtube	muscle
7	chr8:125213400-125219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:125213400-125220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125213600-125216400	Weak transcription	NHDF-Ad	bronchial
10	chr8:125213800-125218200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125213800-125220200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125214400-125215800	Weak transcription	Esophagus	oesophagus
13	chr8:125214800-125215200	Weak transcription	Fetal Heart	heart
14	chr8:125214800-125216000	Weak transcription	Left Ventricle	heart
15	chr8:125214800-125216400	Weak transcription	Spleen	Spleen
16	chr8:125214800-125219600	Weak transcription	Adipose Nuclei	Adipose
17	chr8:125214800-125220000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:125214800-125220400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:125214800-125221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:125215000-125215800	Weak transcription	Right Ventricle	heart
21	chr8:125215000-125216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:125215000-125216000	Weak transcription	Right Atrium	heart
23	chr8:125215000-125220000	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links