Variant report

Variant	rs55650528
Chromosome Location	chr1:216989653-216989654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11117683	0.91[EUR][1000 genomes]
rs11117688	0.96[EUR][1000 genomes]
rs12086610	0.96[EUR][1000 genomes]
rs17649784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17649955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17650566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55703041	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61817870	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762163	chr1:216982140-217015625	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216987000-216991000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:216987600-216989800	Enhancers	Fetal Kidney	kidney
3	chr1:216987600-216992400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:216988000-216997200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:216988400-216989800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:216988600-216990000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:216989000-217005800	Weak transcription	Left Ventricle	heart
8	chr1:216989200-216989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:216989200-216992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:216989400-216990000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:216989400-216990600	Weak transcription	Fetal Brain Male	brain
12	chr1:216989400-216998200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:216989600-216990200	Enhancers	Fetal Lung	lung
14	chr1:216989600-216991800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:216989600-216992400	Enhancers	Fetal Heart	heart
16	chr1:216989600-216992600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:216989600-216992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:216989600-216993200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:216989600-216993200	Weak transcription	Small Intestine	intestine
20	chr1:216989600-216993200	Weak transcription	HSMMtube	muscle
21	chr1:216989600-216993600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:216989600-216993800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:216989600-216993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:216989600-216994000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:216989600-216997800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:216989600-216998000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:216989600-217000600	Weak transcription	Psoas Muscle	Psoas

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