Variant report

Variant	rs61194109
Chromosome Location	chr2:173379845-173379846
allele	A/T
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:6)

rs_ID	r²[population]
rs11679477	0.84[ASN][1000 genomes]
rs2272497	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55667609	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55767844	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59990001	1.00[AMR][1000 genomes]
rs70937086	1.00[AMR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:173377200-173386000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:173377400-173380800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:173378200-173380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:173378600-173383400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:173379200-173380000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:173379600-173380200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:173379600-173380800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:173379600-173380800	Weak transcription	K562	blood
11	chr2:173379600-173381200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:173379800-173384200	Weak transcription	Primary B cells from cord blood	blood

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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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