Variant report

Variant	rs72813009
Chromosome Location	chr2:99492193-99492194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99484811..99487298-chr2:99490924..99492604,2	K562	blood:
2	chr2:99491047..99492964-chr2:99524567..99526282,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10153924	1.00[AFR][1000 genomes]
rs11123753	0.87[AMR][1000 genomes]
rs12233010	1.00[AFR][1000 genomes]
rs12233187	1.00[AFR][1000 genomes]
rs12233197	1.00[AFR][1000 genomes]
rs1574516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17022034	0.82[EUR][1000 genomes]
rs4850887	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4851156	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4851157	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4851158	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4851159	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs66484268	0.81[EUR][1000 genomes]
rs67008211	0.98[EUR][1000 genomes]
rs67983743	0.81[EUR][1000 genomes]
rs72811067	1.00[EUR][1000 genomes]
rs72811068	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811073	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811074	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811075	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811079	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811084	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811092	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811098	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811102	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813003	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99485600-99499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:99487600-99499400	Weak transcription	Gastric	stomach
3	chr2:99488200-99497200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:99490200-99497200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:99491000-99492400	Enhancers	GM12878-XiMat	blood
6	chr2:99491000-99496800	Weak transcription	Esophagus	oesophagus
7	chr2:99491200-99492600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:99491800-99492400	Enhancers	Brain Anterior Caudate	brain
9	chr2:99491800-99492600	Weak transcription	Lung	lung
10	chr2:99492000-99492200	Enhancers	HSMM	muscle
11	chr2:99492000-99500400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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