Variant report

Variant	rs17704205
Chromosome Location	chr5:147337164-147337165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10035454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10043166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361066	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363654	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829014	0.93[ASN][1000 genomes]
rs72829016	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829024	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	esv16820	chr5:147320290-147337996	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3692876	chr5:147326902-147337164	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	nsv441968	chr5:147327346-147337913	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv514328	chr5:147329263-147337727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv818388	chr5:147333945-147337164	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription	n/a	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	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	chr5:147328400-147337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:147335200-147338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:147335400-147337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:147335800-147343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:147336400-147340600	Weak transcription	Hela-S3	cervix
11	chr5:147336400-147343400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:147336400-147343400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:147336600-147337600	Enhancers	HMEC	breast
15	chr5:147336600-147337800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:147336600-147343600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:147336800-147337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:147336800-147337800	Enhancers	NHEK	skin

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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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