Variant report

Variant	rs28776770
Chromosome Location	chr1:223224110-223224111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61838990	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7364575	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7545174	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs755352	0.85[EUR][1000 genomes]
rs9441855	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223212000-223225600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:223214800-223247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:223219400-223225600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:223220400-223225400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:223220600-223225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:223220600-223225600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:223220600-223225600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:223220800-223247800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:223221200-223225000	Weak transcription	Lung	lung
10	chr1:223221400-223225600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:223221600-223225600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:223222400-223225000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:223222400-223225600	Weak transcription	Aorta	Aorta
14	chr1:223222400-223225600	Weak transcription	Spleen	Spleen
15	chr1:223222400-223226600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:223223000-223224800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:223223000-223224800	Weak transcription	Right Ventricle	heart
18	chr1:223223000-223225600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:223223200-223225400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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