Variant report

Variant	rs1970981
Chromosome Location	chr22:28207671-28207672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16985571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7291272	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8137442	0.83[AFR][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	nsv1059972	chr22:28089263-28227579	Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv829144	chr22:28172266-28209317	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28204600-28207800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr22:28204600-28208000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr22:28205200-28208000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:28206000-28207800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:28206000-28207800	Enhancers	NHLF	lung
6	chr22:28206200-28207800	Enhancers	Ovary	ovary
7	chr22:28206200-28208000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:28207000-28208000	Enhancers	Fetal Stomach	stomach
9	chr22:28207200-28207800	Enhancers	Stomach Smooth Muscle	stomach
10	chr22:28207200-28208000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:28207200-28211200	Weak transcription	Psoas Muscle	Psoas
12	chr22:28207400-28207800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr22:28207400-28211200	Weak transcription	Esophagus	oesophagus
14	chr22:28207400-28211400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:28207400-28211400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:28207400-28211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:28207400-28211600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:28207600-28207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28207600-28207800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:28207600-28207800	Enhancers	Right Ventricle	heart
21	chr22:28207600-28211200	Weak transcription	H1 Cell Line	embryonic stem cell

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