Variant report

Variant	rs73016865
Chromosome Location	chr2:173172213-173172214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs59181197	1.00[AMR][1000 genomes]
rs59620164	1.00[AMR][1000 genomes]
rs60051939	1.00[AMR][1000 genomes]
rs60894303	1.00[AMR][1000 genomes]
rs73016837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016886	0.94[AFR][1000 genomes]
rs73016888	0.94[AFR][1000 genomes]
rs73018831	1.00[AMR][1000 genomes]
rs73024153	1.00[AMR][1000 genomes]
rs73024190	1.00[AMR][1000 genomes]
rs73033218	1.00[AMR][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	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173161200-173172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:173162400-173172600	Weak transcription	Fetal Thymus	thymus
3	chr2:173164800-173172800	Weak transcription	Pancreas	Pancrea
4	chr2:173170000-173172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:173170200-173172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:173170400-173177200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:173170600-173172800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:173170600-173178000	Weak transcription	Spleen	Spleen
9	chr2:173170800-173172600	Weak transcription	NHEK	skin
10	chr2:173171000-173172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173171000-173176400	Weak transcription	Stomach Mucosa	stomach
12	chr2:173171600-173172600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:173171600-173172800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:173171800-173172800	Enhancers	HUVEC	blood vessel
15	chr2:173171800-173173800	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:173171800-173174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:173172200-173172400	Enhancers	Right Atrium	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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