Variant report

Variant	rs28396489
Chromosome Location	chr5:75492539-75492540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12188309	0.94[EUR][1000 genomes]
rs12653182	0.94[EUR][1000 genomes]
rs13164604	0.98[EUR][1000 genomes]
rs13165397	0.86[EUR][1000 genomes]
rs13168590	0.86[EUR][1000 genomes]
rs13170038	0.81[EUR][1000 genomes]
rs13179555	0.82[EUR][1000 genomes]
rs13185101	0.98[EUR][1000 genomes]
rs13186671	0.86[EUR][1000 genomes]
rs13187212	0.98[EUR][1000 genomes]
rs13189798	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34101768	0.98[EUR][1000 genomes]
rs34513022	0.81[EUR][1000 genomes]
rs34637655	0.87[EUR][1000 genomes]
rs34667328	0.98[EUR][1000 genomes]
rs34851212	0.86[EUR][1000 genomes]
rs34942575	0.81[EUR][1000 genomes]
rs34951990	0.94[EUR][1000 genomes]
rs35411065	0.84[EUR][1000 genomes]
rs35634088	0.86[EUR][1000 genomes]
rs67657625	0.98[EUR][1000 genomes]
rs67940529	0.96[EUR][1000 genomes]
rs71630904	0.84[EUR][1000 genomes]
rs71630905	0.98[EUR][1000 genomes]
rs72773734	0.94[EUR][1000 genomes]
rs72773753	0.88[EUR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75490200-75500200	Weak transcription	Placenta	Placenta
2	chr5:75490400-75492600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:75490400-75494000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:75491000-75495200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:75491600-75493600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:75491800-75493800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:75492000-75492800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:75492000-75493800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:75492000-75494000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:75492000-75494000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:75492200-75493400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:75492200-75494000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:75492200-75494000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:75492400-75493400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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