Variant report

Variant	rs2800236
Chromosome Location	chr1:225048691-225048692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10915725	0.81[AMR][1000 genomes]
rs10915726	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12120196	0.83[AMR][1000 genomes]
rs2248249	0.80[AMR][1000 genomes]
rs2405782	0.80[EUR][1000 genomes]
rs2405783	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2800235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800237	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2800239	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2897233	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3856143	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56073443	0.80[AMR][1000 genomes]
rs7552247	0.99[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	nsv527809	chr1:225045828-225048747	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225044000-225049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:225047600-225049000	Weak transcription	HMEC	breast
3	chr1:225047800-225048800	Weak transcription	HSMMtube	muscle
4	chr1:225048200-225048800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:225048200-225049200	Enhancers	Fetal Brain Male	brain
6	chr1:225048200-225049400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:225048400-225049000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:225048400-225049000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:225048400-225049200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:225048600-225048800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:225048600-225049200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:225048600-225049200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:225048600-225049400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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