Variant report

Variant	rs12622241
Chromosome Location	chr2:144659934-144659935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10496954	0.96[ASN][1000 genomes]
rs12613355	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615885	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17834780	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17835199	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806026	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55968381	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs787151	1.00[ASN][1000 genomes]
rs9646679	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144654000-144661200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:144657600-144661000	Weak transcription	Ovary	ovary
3	chr2:144658600-144660400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:144658600-144661400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:144659400-144660000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:144659400-144660000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:144659400-144660000	Enhancers	Hela-S3	cervix
8	chr2:144659400-144660000	Enhancers	HUVEC	blood vessel
9	chr2:144659400-144660000	Enhancers	Osteobl	bone
10	chr2:144659400-144660200	Enhancers	HMEC	breast
11	chr2:144659400-144661000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:144659400-144661400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:144659400-144664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:144659600-144660000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:144659600-144660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:144659600-144660800	Weak transcription	HSMM	muscle
17	chr2:144659800-144660800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:144659800-144661000	Weak transcription	NHEK	skin
19	chr2:144659800-144661000	Weak transcription	NHLF	lung

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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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