Variant report

Variant	rs56697971
Chromosome Location	chr18:28860866-28860867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28821250..28823567-chr18:28859683..28862005,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1365290	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961568	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961573	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16961579	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961588	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961589	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961590	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16961592	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961601	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961605	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961609	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961613	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16961641	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16961648	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16961657	0.90[EUR][1000 genomes]
rs16961679	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17728400	1.00[EUR][1000 genomes]
rs17801172	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17801274	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912319	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59592286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593146	1.00[EUR][1000 genomes]
rs59844732	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60220975	0.99[ASN][1000 genomes]
rs62087705	0.93[AMR][1000 genomes]
rs62087706	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087750	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087751	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087754	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62087756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62088670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088672	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62088673	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62088674	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62088676	0.93[EUR][1000 genomes]
rs62088713	1.00[EUR][1000 genomes]
rs6506905	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506907	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7234474	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7237750	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8096678	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9966811	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28856000-28861200	Weak transcription	Left Ventricle	heart
2	chr18:28858800-28861400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:28858800-28862400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:28859000-28867600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:28859400-28861200	Weak transcription	HepG2	liver
6	chr18:28860000-28862800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:28860200-28862600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:28860400-28862600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:28860600-28863200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:28860800-28861200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:28860800-28861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:28860800-28862800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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