Variant report

Variant	rs73984488
Chromosome Location	chr2:205848483-205848484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13313783	0.80[AFR][1000 genomes]
rs55941034	1.00[AMR][1000 genomes]
rs57531270	1.00[AMR][1000 genomes]
rs58416129	1.00[AMR][1000 genomes]
rs59381758	1.00[AMR][1000 genomes]
rs60086789	1.00[AMR][1000 genomes]
rs60446736	1.00[AMR][1000 genomes]
rs61001089	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286794	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713878	1.00[AMR][1000 genomes]
rs6753755	1.00[AMR][1000 genomes]
rs73982523	1.00[AMR][1000 genomes]
rs73982525	1.00[AMR][1000 genomes]
rs73982529	1.00[AMR][1000 genomes]
rs73982531	1.00[AMR][1000 genomes]
rs73982532	1.00[AMR][1000 genomes]
rs73982556	1.00[AMR][1000 genomes]
rs73982587	1.00[AMR][1000 genomes]
rs73982600	1.00[AMR][1000 genomes]
rs73984428	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984430	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984492	0.88[AFR][1000 genomes]
rs7579299	1.00[AMR][1000 genomes]
rs7597714	1.00[AMR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205843200-205849400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:205847200-205849600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:205847200-205849800	Weak transcription	Ovary	ovary
4	chr2:205847400-205849000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:205847400-205849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:205847400-205849000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:205847400-205849000	Weak transcription	HSMMtube	muscle
8	chr2:205847400-205851000	Weak transcription	K562	blood
9	chr2:205847600-205849200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:205847800-205849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:205848000-205849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:205848000-205849400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:205848000-205849400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:205848000-205849600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:205848000-205849600	Weak transcription	Fetal Kidney	kidney
16	chr2:205848000-205849800	Weak transcription	Fetal Lung	lung
17	chr2:205848000-205851400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:205848400-205849800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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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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