Variant report

Variant	rs72903343
Chromosome Location	chr1:57482650-57482651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17115200	1.00[AMR][1000 genomes]
rs72903334	1.00[AFR][1000 genomes]
rs74074119	1.00[AMR][1000 genomes]
rs74075638	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57460400-57483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:57472600-57484400	Weak transcription	Fetal Brain Male	brain
3	chr1:57474200-57490200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:57477600-57490200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:57479400-57487000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57479800-57482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57479800-57484800	Weak transcription	Fetal Heart	heart
8	chr1:57480000-57484400	Weak transcription	Liver	Liver
9	chr1:57480400-57483000	Strong transcription	Fetal Intestine Small	intestine
10	chr1:57481000-57482800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:57481600-57484400	Weak transcription	Fetal Brain Female	brain
12	chr1:57481600-57490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:57482200-57483400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:57482200-57483800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:57482400-57483600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57482600-57483000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:57482600-57483000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:57482600-57483000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:57482600-57483400	Enhancers	H1 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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