Variant report

Variant	rs330090
Chromosome Location	chr8:9177129-9177130
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	chr8:9173793..9177348-chr8:9178573..9182630,4	K562	blood:

Variant related genes	Relation type
ENSG00000254235	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11990096	0.87[ASN][1000 genomes]
rs12543276	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660635	0.87[ASN][1000 genomes]
rs28529330	0.87[ASN][1000 genomes]
rs330091	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs330093	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs330095	1.00[ASN][1000 genomes]
rs330096	1.00[ASN][1000 genomes]
rs6998846	0.87[ASN][1000 genomes]
rs7002551	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9772631	0.87[ASN][1000 genomes]
rs983308	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983310	0.91[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983311	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9174200-9177800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:9174600-9177200	Enhancers	Right Atrium	heart
3	chr8:9174600-9178400	Enhancers	Brain Cingulate Gyrus	brain
4	chr8:9174600-9178800	Enhancers	Brain Substantia Nigra	brain
5	chr8:9174800-9177200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:9174800-9178000	Enhancers	Adipose Nuclei	Adipose
7	chr8:9174800-9178600	Enhancers	Brain Hippocampus Middle	brain
8	chr8:9175200-9178600	Enhancers	Brain Anterior Caudate	brain
9	chr8:9175400-9182400	Enhancers	Liver	Liver
10	chr8:9175800-9178600	Enhancers	Left Ventricle	heart
11	chr8:9175800-9179000	Enhancers	Fetal Heart	heart
12	chr8:9176000-9177400	Enhancers	Placenta	Placenta
13	chr8:9176000-9177600	Enhancers	Brain Angular Gyrus	brain
14	chr8:9176200-9177200	Enhancers	Psoas Muscle	Psoas
15	chr8:9176200-9177800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:9176200-9178400	Enhancers	Fetal Intestine Large	intestine
17	chr8:9176400-9177400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:9176400-9178200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:9176400-9181600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:9176600-9181000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:9176800-9177200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:9176800-9177800	Bivalent Enhancer	HepG2	liver
23	chr8:9176800-9179200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:9177000-9177400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:9177000-9182000	Weak transcription	Right Ventricle	heart

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