Variant report

Variant	rs71580474
Chromosome Location	chr5:147340002-147340003
allele	A/G
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:17)

rs_ID	r²[population]
rs10491340	0.80[AMR][1000 genomes]
rs10515597	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10515599	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10515601	0.80[ASN][1000 genomes]
rs17599360	0.85[AMR][1000 genomes]
rs17599437	0.80[AMR][1000 genomes]
rs17599451	0.80[AMR][1000 genomes]
rs17774838	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34578922	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34733654	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35020001	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35474788	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783964	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35861469	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71580469	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73267103	0.86[EUR][1000 genomes]
rs7724336	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][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	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2760927	chr5:147327342-147343763	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3339829	chr5:147337887-147340648	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv3470003	chr5:147337932-147340627	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv3470004	chr5:147337958-147340569	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv3470005	chr5:147337958-147340569	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:147327000-147343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:147327200-147343400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:147335800-147343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:147336400-147340600	Weak transcription	Hela-S3	cervix
8	chr5:147336400-147343400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:147336400-147343400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:147336600-147343600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:147337600-147343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:147338000-147340600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:147338000-147340800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:147338000-147343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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