Variant report

Variant	rs6721063
Chromosome Location	chr2:151920528-151920529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497079	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17197919	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17270107	0.82[AFR][1000 genomes]
rs60902699	0.82[AFR][1000 genomes]
rs6712682	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6728040	0.92[ASN][1000 genomes]
rs6760096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72485578	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:151919400-151920800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:151919400-151920800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:151919400-151920800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:151919400-151920800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:151919400-151920800	Enhancers	NHEK	skin
6	chr2:151919400-151921600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:151919600-151920600	Enhancers	HMEC	breast
8	chr2:151919600-151920800	Enhancers	NHDF-Ad	bronchial
9	chr2:151919600-151921000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:151919800-151920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:151919800-151920800	Enhancers	Fetal Lung	lung
12	chr2:151920000-151920800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:151920000-151921600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:151920000-151926200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:151920000-151926400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:151920200-151920800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:151920200-151927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:151920400-151922000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:151920400-151926600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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