Variant report

Variant	rs330093
Chromosome Location	chr8:9175958-9175959
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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11990096	0.87[ASN][1000 genomes]
rs12543276	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660635	0.87[ASN][1000 genomes]
rs28529330	0.87[ASN][1000 genomes]
rs330090	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs330091	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs330092	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs330095	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330096	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs441177	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6998846	0.87[ASN][1000 genomes]
rs7002551	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7464067	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9772631	0.87[ASN][1000 genomes]
rs983308	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983310	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs983311	0.81[AMR][1000 genomes];0.87[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9171400-9176200	Weak transcription	Right Ventricle	heart
2	chr8:9174200-9177800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:9174400-9176400	Enhancers	Ovary	ovary
4	chr8:9174600-9176600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:9174600-9177200	Enhancers	Right Atrium	heart
6	chr8:9174600-9178400	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:9174600-9178800	Enhancers	Brain Substantia Nigra	brain
8	chr8:9174800-9176000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:9174800-9176400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:9174800-9176400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:9174800-9177000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:9174800-9177200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:9174800-9178000	Enhancers	Adipose Nuclei	Adipose
14	chr8:9174800-9178600	Enhancers	Brain Hippocampus Middle	brain
15	chr8:9175000-9176200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:9175200-9176400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:9175200-9178600	Enhancers	Brain Anterior Caudate	brain
18	chr8:9175400-9176200	Weak transcription	Psoas Muscle	Psoas
19	chr8:9175400-9182400	Enhancers	Liver	Liver
20	chr8:9175600-9176000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:9175600-9176200	Enhancers	Osteobl	bone
22	chr8:9175600-9176600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:9175600-9176600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:9175800-9177000	Enhancers	Fetal Thymus	thymus
25	chr8:9175800-9178600	Enhancers	Left Ventricle	heart
26	chr8:9175800-9179000	Enhancers	Fetal Heart	heart

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