Variant report

Variant	rs12380332
Chromosome Location	chr9:79064624-79064625
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	chr9:79057975..79060162-chr9:79063071..79066178,3	MCF-7	breast:
2	chr9:79062570..79065209-chr9:79073838..79075635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10116800	0.84[ASN][1000 genomes]
rs10118954	0.84[ASN][1000 genomes]
rs10125012	0.84[ASN][1000 genomes]
rs10125667	0.84[ASN][1000 genomes]
rs10781358	0.84[ASN][1000 genomes]
rs10781360	0.84[ASN][1000 genomes]
rs10869770	0.84[ASN][1000 genomes]
rs10869781	0.95[ASN][1000 genomes]
rs11144870	0.84[ASN][1000 genomes]
rs11144875	0.84[ASN][1000 genomes]
rs11144878	0.84[ASN][1000 genomes]
rs11144881	0.84[ASN][1000 genomes]
rs11144887	0.84[ASN][1000 genomes]
rs11144905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11144908	0.95[ASN][1000 genomes]
rs11144909	0.95[ASN][1000 genomes]
rs1129399	0.84[ASN][1000 genomes]
rs11791951	0.84[ASN][1000 genomes]
rs11793613	0.84[ASN][1000 genomes]
rs11794019	0.84[ASN][1000 genomes]
rs12156473	0.84[ASN][1000 genomes]
rs12351617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12377856	0.84[ASN][1000 genomes]
rs12377878	0.84[ASN][1000 genomes]
rs12378822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1324212	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1324213	0.84[ASN][1000 genomes]
rs1951910	0.84[ASN][1000 genomes]
rs4571791	0.84[ASN][1000 genomes]
rs55740812	0.89[ASN][1000 genomes]
rs57339182	1.00[ASN][1000 genomes]
rs57429014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57480680	0.84[ASN][1000 genomes]
rs58651349	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59322809	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62564441	0.87[EUR][1000 genomes]
rs62564442	0.90[EUR][1000 genomes]
rs62564444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62564446	1.00[ASN][1000 genomes]
rs62564449	0.95[ASN][1000 genomes]
rs62564454	0.95[ASN][1000 genomes]
rs62565109	0.89[ASN][1000 genomes]
rs62567918	0.89[ASN][1000 genomes]
rs62568690	0.84[ASN][1000 genomes]
rs62568692	0.84[ASN][1000 genomes]
rs6560516	0.84[ASN][1000 genomes]
rs6560524	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7025942	0.84[ASN][1000 genomes]
rs7026067	0.84[ASN][1000 genomes]
rs7029439	0.84[ASN][1000 genomes]
rs7035385	0.84[ASN][1000 genomes]
rs7038009	0.84[ASN][1000 genomes]
rs7040138	0.84[ASN][1000 genomes]
rs7041690	0.84[ASN][1000 genomes]
rs7047489	0.84[ASN][1000 genomes]
rs7049245	0.84[ASN][1000 genomes]
rs7851616	0.84[ASN][1000 genomes]
rs7852884	0.84[ASN][1000 genomes]
rs7853410	0.84[ASN][1000 genomes]
rs7854540	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859327	0.84[ASN][1000 genomes]
rs7875575	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv520423	chr9:79047117-79065299	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79062600-79065800	Weak transcription	A549	lung
2	chr9:79062800-79065800	Weak transcription	NH-A	brain
3	chr9:79063000-79065000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:79063000-79065200	Weak transcription	HSMM	muscle
5	chr9:79063000-79065200	Weak transcription	NHDF-Ad	bronchial
6	chr9:79063000-79065200	Weak transcription	NHLF	lung
7	chr9:79063000-79065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:79063000-79065400	Weak transcription	Osteobl	bone
9	chr9:79063000-79065600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:79063000-79065800	Weak transcription	HSMMtube	muscle
11	chr9:79063000-79067400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:79063000-79068000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:79063000-79070800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:79063200-79066200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:79063400-79068000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:79063600-79067800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:79064200-79067600	Weak transcription	Fetal Brain Male	brain
18	chr9:79064400-79067200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:79064600-79065200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:79064600-79071000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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