Variant report

Variant	rs2280302
Chromosome Location	chr9:97349520-97349521
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	chr9:97315728..97317499-chr9:97347623..97350500,3	MCF-7	breast:
2	chr9:97314930..97317600-chr9:97349142..97351046,2	K562	blood:

Variant related genes	Relation type
ENSG00000231806	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12115356	0.97[AFR][1000 genomes]
rs2280301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292900	0.85[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs576745	0.86[LWK][hapmap]
rs7851510	0.97[AFR][1000 genomes]
rs7856539	0.87[AFR][1000 genomes]
rs7861787	0.97[AFR][1000 genomes]
rs7862669	0.97[AFR][1000 genomes]
rs7871076	0.92[AFR][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	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv466436	chr9:97343620-97369149	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv614917	chr9:97343620-97369149	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97317200-97354000	Weak transcription	Gastric	stomach
2	chr9:97335000-97349600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:97346200-97351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:97347400-97351200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:97347400-97353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:97347600-97374000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr9:97348800-97349800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:97348800-97349800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:97348800-97349800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:97348800-97349800	Enhancers	Liver	Liver
11	chr9:97348800-97349800	Enhancers	Fetal Lung	lung
12	chr9:97348800-97350000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:97349000-97349600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:97349000-97349600	Enhancers	Fetal Muscle Trunk	muscle
15	chr9:97349000-97349800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:97349000-97350000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:97349400-97349600	Flanking Active TSS	HSMMtube	muscle
18	chr9:97349400-97349800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:97349400-97349800	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr9:97349400-97349800	Enhancers	HepG2	liver
21	chr9:97349400-97350000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:97349400-97350200	Enhancers	Placenta	Placenta

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