Variant report

Variant	rs1693517
Chromosome Location	chr15:52822790-52822791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52816804..52818865-chr15:52821369..52824453,4	K562	blood:
2	chr15:52822627..52825324-chr15:52833612..52835175,2	K562	blood:
3	chr15:52820217..52824623-chr15:52859000..52863588,7	MCF-7	breast:
4	chr15:52820950..52823000-chr15:52846878..52849661,2	MCF-7	breast:
5	chr15:52821243..52824156-chr15:52859754..52862350,2	MCF-7	breast:
6	chr15:52785155..52787650-chr15:52822285..52825077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13329510	1.00[EUR][1000 genomes]
rs1693516	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693519	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724599	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724600	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724602	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222656	1.00[EUR][1000 genomes]
rs28417081	1.00[EUR][1000 genomes]
rs28417825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28483042	1.00[EUR][1000 genomes]
rs28556791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570350	1.00[EUR][1000 genomes]
rs28581262	1.00[EUR][1000 genomes]
rs28589619	1.00[ASN][1000 genomes]
rs28663524	1.00[EUR][1000 genomes]
rs28665952	1.00[EUR][1000 genomes]
rs28673564	1.00[EUR][1000 genomes]
rs28682547	1.00[EUR][1000 genomes]
rs28687913	1.00[EUR][1000 genomes]
rs28699673	1.00[EUR][1000 genomes]
rs28701803	1.00[ASN][1000 genomes]
rs28729511	1.00[EUR][1000 genomes]
rs28814017	1.00[EUR][1000 genomes]
rs28840839	1.00[EUR][1000 genomes]
rs28876722	1.00[EUR][1000 genomes]
rs7168981	1.00[EUR][1000 genomes]
rs73412972	1.00[EUR][1000 genomes]
rs73412975	1.00[EUR][1000 genomes]
rs73414913	1.00[ASN][1000 genomes]
rs7342673	1.00[EUR][1000 genomes]
rs9920195	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3406407	chr15:52820185-52823033	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52822000-52822800	Flanking Active TSS	Brain Anterior Caudate	brain
2	chr15:52822200-52822800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr15:52822200-52822800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr15:52822200-52822800	Bivalent Enhancer	Fetal Lung	lung
5	chr15:52822200-52839600	Weak transcription	Right Atrium	heart
6	chr15:52822400-52822800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr15:52822400-52822800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:52822400-52822800	Enhancers	Brain Substantia Nigra	brain
9	chr15:52822400-52822800	Enhancers	Fetal Brain Male	brain
10	chr15:52822400-52822800	Bivalent Enhancer	HepG2	liver
11	chr15:52822600-52822800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:52822600-52822800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr15:52822600-52822800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:52822600-52822800	Flanking Active TSS	Aorta	Aorta
15	chr15:52822600-52822800	Enhancers	Brain Angular Gyrus	brain
16	chr15:52822600-52822800	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:52822600-52822800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr15:52822600-52822800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:52822600-52823000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:52822600-52827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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