Variant report

Variant	rs72903396
Chromosome Location	chr1:57528008-57528009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs155289	1.00[AMR][1000 genomes]
rs1700012	1.00[AMR][1000 genomes]
rs1887254	1.00[AMR][1000 genomes]
rs55805103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57372734	1.00[AMR][1000 genomes]
rs58424571	1.00[AMR][1000 genomes]
rs58711240	1.00[AMR][1000 genomes]
rs59848345	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61364770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905232	1.00[AMR][1000 genomes]
rs72905293	1.00[AMR][1000 genomes]
rs72907108	1.00[AMR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57496000-57533800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:57512800-57532400	Weak transcription	Fetal Brain Female	brain
3	chr1:57518200-57529000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57519600-57529200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57523800-57532800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:57525200-57528600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:57525400-57528400	Weak transcription	Left Ventricle	heart
8	chr1:57525400-57529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:57526400-57532200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:57527000-57528800	Strong transcription	Fetal Intestine Small	intestine
11	chr1:57527200-57528400	Enhancers	HepG2	liver
12	chr1:57527200-57528600	Strong transcription	Fetal Intestine Large	intestine
13	chr1:57527400-57528400	Weak transcription	Psoas Muscle	Psoas
14	chr1:57527400-57530200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57527400-57532200	Weak transcription	Fetal Heart	heart
16	chr1:57527400-57534800	Weak transcription	Liver	Liver
17	chr1:57527600-57532200	Weak transcription	H1 BMP4 Derived Mesendoderm 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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