Variant report

Variant	rs13022414
Chromosome Location	chr2:30591968-30591969
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30585635..30588631-chr2:30590079..30592633,2	K562	blood:
2	chr2:30591422..30593003-chr2:30883538..30886238,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11885422	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714305	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33998876	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34113782	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707509	0.81[EUR][1000 genomes]
rs6733641	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756908	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73925153	0.90[EUR][1000 genomes]
rs7603554	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608507	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30586200-30594800	Weak transcription	Ovary	ovary
3	chr2:30586600-30594600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:30587400-30593000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
6	chr2:30589000-30592200	Enhancers	NHLF	lung
7	chr2:30589200-30592000	Weak transcription	Thymus	Thymus
8	chr2:30589600-30593800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:30589600-30594800	Weak transcription	Placenta	Placenta
10	chr2:30589800-30593600	Weak transcription	Fetal Thymus	thymus
11	chr2:30589800-30594800	Weak transcription	Adipose Nuclei	Adipose
12	chr2:30589800-30594800	Weak transcription	Left Ventricle	heart
13	chr2:30589800-30595800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:30590000-30593800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:30590400-30592400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:30590400-30594000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:30590600-30592200	Enhancers	Pancreas	Pancrea
18	chr2:30590600-30592800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:30591200-30592200	Enhancers	Spleen	Spleen
20	chr2:30591400-30594600	Weak transcription	Fetal Heart	heart
21	chr2:30591400-30594800	Weak transcription	Right Atrium	heart
22	chr2:30591600-30592600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:30591600-30592800	Enhancers	Osteobl	bone
24	chr2:30591600-30594600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:30591600-30594800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:30591600-30594800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:30591600-30595000	Weak transcription	HSMMtube	muscle
28	chr2:30591600-30595200	Weak transcription	Aorta	Aorta
29	chr2:30591600-30596600	Weak transcription	NH-A	brain
30	chr2:30591600-30596800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:30591600-30596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:30591600-30597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:30591800-30592200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:30591800-30592600	Weak transcription	Fetal Lung	lung
35	chr2:30591800-30594800	Weak transcription	Fetal Kidney	kidney

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