Variant report

Variant	rs56236943
Chromosome Location	chr9:104499190-104499191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104493214..104495968-chr9:104498085..104500159,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10512288	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819985	0.90[AFR][1000 genomes]
rs10989610	0.87[AFR][1000 genomes]
rs16920674	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2069324	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2069325	0.99[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4743485	0.90[AFR][1000 genomes]
rs55734521	1.00[ASN][1000 genomes]
rs59275233	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62576354	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62576359	1.00[EUR][1000 genomes]
rs62577460	0.99[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62577463	0.99[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62577464	0.99[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62577465	0.93[EUR][1000 genomes]
rs62582206	0.93[EUR][1000 genomes]
rs62582209	1.00[ASN][1000 genomes]
rs6479062	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479064	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7020326	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7030816	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7031850	1.00[EUR][1000 genomes]
rs7032033	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7033120	0.82[AFR][1000 genomes]
rs7034155	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7041051	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7043125	1.00[EUR][1000 genomes]
rs7043519	1.00[EUR][1000 genomes]
rs7849732	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7849944	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7858895	1.00[ASN][1000 genomes]
rs7864316	0.81[AFR][1000 genomes]
rs7864726	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:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1046590	chr9:104450624-104848588	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046614	chr9:104492314-104686326	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1054992	chr9:104494816-104771134	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1043967	chr9:104498664-104636328	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104494200-104499600	Weak transcription	Liver	Liver
2	chr9:104497800-104500000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:104497800-104501200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:104498600-104499600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr9:104498800-104499200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr9:104498800-104499600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr9:104499000-104499200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
8	chr9:104499000-104499400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr9:104499000-104499400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr9:104499000-104499400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr9:104499000-104499600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr9:104499000-104499600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:104499000-104499600	Bivalent/Poised TSS	Left Ventricle	heart
14	chr9:104499000-104499600	Bivalent/Poised TSS	Right Ventricle	heart
15	chr9:104499000-104500200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr9:104499000-104501200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

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