Variant report

Variant	rs73383439
Chromosome Location	chr12:105320946-105320947
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	chr12:105318476..105323326-chr12:105350867..105355215,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11834087	0.87[ASN][1000 genomes]
rs12579202	0.88[ASN][1000 genomes]
rs12579469	0.94[ASN][1000 genomes]
rs12579505	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12580114	0.81[ASN][1000 genomes]
rs12580128	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12581352	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12582312	0.87[ASN][1000 genomes]
rs17036429	0.88[ASN][1000 genomes]
rs17036433	0.86[ASN][1000 genomes]
rs17036489	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17036545	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4369494	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4545639	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57144501	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57685442	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59079144	0.88[ASN][1000 genomes]
rs60976244	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61129422	0.86[ASN][1000 genomes]
rs73383408	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73383420	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73383435	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73383441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73383467	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73383473	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73383478	0.93[AMR][1000 genomes]
rs73394185	0.86[ASN][1000 genomes]
rs73394186	0.86[ASN][1000 genomes]
rs73396157	0.87[ASN][1000 genomes]
rs73396159	0.87[ASN][1000 genomes]
rs73399912	0.88[ASN][1000 genomes]
rs73399925	0.86[ASN][1000 genomes]
rs73399927	0.86[ASN][1000 genomes]
rs73399929	0.86[ASN][1000 genomes]
rs73399931	0.86[ASN][1000 genomes]
rs73399934	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73399944	0.90[ASN][1000 genomes]
rs73399947	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73399956	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73399960	0.90[ASN][1000 genomes]
rs73399968	0.90[ASN][1000 genomes]
rs7976092	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105290800-105331600	Weak transcription	Gastric	stomach
2	chr12:105293600-105321600	Weak transcription	A549	lung
3	chr12:105297400-105323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:105297600-105323400	Weak transcription	Aorta	Aorta
5	chr12:105300400-105323200	Weak transcription	Pancreas	Pancrea
6	chr12:105304400-105324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:105315600-105323400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:105315600-105323600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:105316200-105321800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105316800-105322800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:105318600-105321800	Weak transcription	NHDF-Ad	bronchial
12	chr12:105319600-105322200	Strong transcription	Liver	Liver
13	chr12:105320200-105332200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:105320400-105321800	Weak transcription	GM12878-XiMat	blood
15	chr12:105320600-105324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105320800-105323200	Weak transcription	Stomach Smooth Muscle	stomach

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