Variant report

Variant	rs28558448
Chromosome Location	chr2:77313817-77313818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196956	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12614704	0.83[EUR][1000 genomes]
rs12623546	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13387394	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13387548	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13387646	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13392273	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400677	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17013692	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1921734	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56347487	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58115253	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6756744	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73940296	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1014895	chr2:77263452-77414507	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv458285	chr2:77276201-77345491	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
4	nsv582252	chr2:77276201-77345491	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	nsv874332	chr2:77288585-77387208	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	nsv524535	chr2:77310597-77344652	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
7	esv3422511	chr2:77313346-77335432	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77311400-77314200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:77311600-77315000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:77312600-77314000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:77312600-77314000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:77312800-77314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:77312800-77314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:77313000-77314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:77313000-77315000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:77313200-77314800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:77313200-77315000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:77313200-77315400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:77313600-77315400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:77313800-77314800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:77313800-77315800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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