Variant report

Variant	rs12692999
Chromosome Location	chr2:173173642-173173643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173171784..173174881-chr2:173175432..173178185,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10803872	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803873	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930543	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930544	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930546	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682072	0.90[EUR][1000 genomes]
rs12475457	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12614676	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3934990	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935436	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935437	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4522573	0.81[EUR][1000 genomes]
rs4588155	0.81[EUR][1000 genomes]
rs4972483	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972782	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972787	0.92[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs56030771	0.89[EUR][1000 genomes]
rs56206805	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62167402	0.81[EUR][1000 genomes]
rs62167427	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433348	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433349	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735215	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735271	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743235	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6758468	0.90[EUR][1000 genomes]
rs7560146	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569240	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579339	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595714	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596005	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605564	0.93[AMR][1000 genomes];0.99[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12692999	ATP5G3	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173170400-173177200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:173170600-173178000	Weak transcription	Spleen	Spleen
3	chr2:173171000-173176400	Weak transcription	Stomach Mucosa	stomach
4	chr2:173171800-173173800	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:173171800-173174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:173172400-173173800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr2:173172400-173174000	Enhancers	HMEC	breast
8	chr2:173172600-173173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173172600-173173800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:173172600-173173800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:173172600-173173800	Enhancers	NHEK	skin
12	chr2:173172600-173174000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:173172800-173173800	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:173172800-173173800	Enhancers	Right Ventricle	heart
15	chr2:173172800-173174200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:173173000-173176400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:173173000-173178000	Weak transcription	Lung	lung
18	chr2:173173000-173178200	Weak transcription	Fetal Thymus	thymus
19	chr2:173173000-173181600	Weak transcription	Right Atrium	heart
20	chr2:173173200-173174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:173173200-173174000	Enhancers	HUVEC	blood vessel
22	chr2:173173200-173176400	Weak transcription	Brain Substantia Nigra	brain
23	chr2:173173600-173173800	Enhancers	Adipose Nuclei	Adipose
24	chr2:173173600-173176000	Weak transcription	Left Ventricle	heart
25	chr2:173173600-173176400	Weak transcription	Pancreas	Pancrea
26	chr2:173173600-173178000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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