Variant report

Variant	rs1344933
Chromosome Location	chr2:12231278-12231279
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12222240..12225810-chr2:12227711..12231664,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11680545	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12993594	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13021784	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16858244	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34253770	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34970030	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6729317	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72610740	0.91[EUR][1000 genomes];0.84[ASN][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv997538	chr2:12216408-12242734	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12217400-12249800	Weak transcription	GM12878-XiMat	blood
2	chr2:12221000-12234200	Weak transcription	Spleen	Spleen
3	chr2:12224600-12236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:12224800-12238000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:12228400-12236400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:12229400-12231600	Weak transcription	HMEC	breast
7	chr2:12230000-12234400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:12230200-12232000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:12230400-12232200	Enhancers	Osteobl	bone
10	chr2:12230600-12231400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:12230600-12231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:12230600-12232000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:12230600-12232400	Enhancers	NHDF-Ad	bronchial
14	chr2:12230800-12231600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:12230800-12232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:12230800-12232200	Enhancers	HSMM	muscle
17	chr2:12231000-12231400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:12231000-12232400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:12231000-12238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:12231000-12239800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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