Variant report

Variant	rs275548
Chromosome Location	chr7:108629782-108629783
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10251443	0.83[AMR][1000 genomes]
rs1624486	1.00[AMR][1000 genomes]
rs1723338	0.85[AMR][1000 genomes]
rs275541	0.83[AMR][1000 genomes]
rs275546	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs275550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs275551	1.00[AMR][1000 genomes]
rs848354	1.00[AMR][1000 genomes]
rs848355	0.85[AMR][1000 genomes]
rs848359	0.85[AMR][1000 genomes]
rs848371	0.85[AMR][1000 genomes]
rs848372	0.85[AMR][1000 genomes]
rs848391	0.83[AMR][1000 genomes]
rs860229	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv888946	chr7:108592224-108644939	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv608075	chr7:108592224-108657719	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv824251	chr7:108595570-108643855	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2757235	chr7:108595645-108660398	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2759551	chr7:108595645-108660398	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv888947	chr7:108596014-108644939	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv442060	chr7:108596015-108637601	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv888948	chr7:108601089-108644939	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108624800-108636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:108625000-108637200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:108628400-108641800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:108629400-108629800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:108629400-108629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:108629600-108630800	Enhancers	hESC Derived CD56+ Ectoderm 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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