Variant report

Variant	rs2121322
Chromosome Location	chr2:47065699-47065700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12463795	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12614366	0.81[GIH][hapmap];0.84[TSI][hapmap]
rs1466021	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1466022	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466023	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1466024	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1466025	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035762	0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2166477	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36114719	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4952853	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4952854	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4953429	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57828570	0.90[ASN][1000 genomes]
rs6544930	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6544931	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7568679	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7597025	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs935373	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2121322	ATP6V1E2	cis	cerebellum	SCAN
rs2121322	LOC388946	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47060200-47070400	Weak transcription	NHDF-Ad	bronchial
2	chr2:47063400-47072200	Weak transcription	Placenta	Placenta
3	chr2:47063800-47068800	Weak transcription	HUVEC	blood vessel
4	chr2:47063800-47072000	Weak transcription	Lung	lung
5	chr2:47063800-47072200	Weak transcription	Left Ventricle	heart
6	chr2:47063800-47072200	Weak transcription	Pancreas	Pancrea
7	chr2:47063800-47072800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:47063800-47073000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:47064000-47067400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:47064000-47067400	Strong transcription	Osteobl	bone
11	chr2:47064000-47069400	Weak transcription	Right Ventricle	heart
12	chr2:47064000-47070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:47064000-47072800	Weak transcription	Right Atrium	heart
14	chr2:47064000-47072800	Weak transcription	Spleen	Spleen
15	chr2:47064000-47073200	Weak transcription	NHLF	lung
16	chr2:47064200-47066600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:47064200-47070200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:47065400-47068200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:47065400-47068600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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