Variant report

Variant	rs8192978
Chromosome Location	chr9:13675500-13675501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10491761	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10961209	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10961212	0.83[EUR][1000 genomes]
rs12000174	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12002484	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16923099	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16930577	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16930626	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16930646	0.84[ASN][1000 genomes]
rs16930665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16930675	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16930694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16930712	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16930740	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59927131	0.82[ASN][1000 genomes]
rs60961071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61472956	0.92[EUR][1000 genomes]
rs7032707	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032959	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73647695	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73647696	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73647697	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73650811	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8192959	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8192961	1.00[EUR][1000 genomes]
rs8192966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8192967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8192968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8192969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8192972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192979	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192980	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8192983	1.00[EUR][1000 genomes]
rs8192985	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8192992	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8192997	0.92[EUR][1000 genomes];0.91[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	nsv1023684	chr9:13529680-13744602	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv540067	chr9:13529680-13744602	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892587	chr9:13601074-13732363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1843958	chr9:13631992-13706651	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892588	chr9:13667639-13715063	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1018933	chr9:13669862-13756710	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8192978	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13665800-13675800	Weak transcription	Left Ventricle	heart
2	chr9:13674600-13675800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:13674600-13675800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:13674600-13676000	Enhancers	HMEC	breast
5	chr9:13674600-13676400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:13674800-13675800	Enhancers	Right Atrium	heart
7	chr9:13675200-13675600	Enhancers	Fetal Muscle Leg	muscle
8	chr9:13675200-13675800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr9:13675200-13676000	Flanking Active TSS	Fetal Heart	heart
10	chr9:13675400-13676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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