Variant report

Variant	rs73415582
Chromosome Location	chr12:123303866-123303867
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123303686..123306073-chr12:123311206..123312843,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1619142	1.00[EUR][1000 genomes]
rs1671681	1.00[EUR][1000 genomes]
rs1671682	1.00[EUR][1000 genomes]
rs1671683	1.00[EUR][1000 genomes]
rs1696316	1.00[EUR][1000 genomes]
rs1696322	1.00[EUR][1000 genomes]
rs1696325	1.00[EUR][1000 genomes]
rs1798560	1.00[EUR][1000 genomes]
rs1798561	1.00[EUR][1000 genomes]
rs1798565	1.00[EUR][1000 genomes]
rs1798569	1.00[EUR][1000 genomes]
rs2456151	1.00[EUR][1000 genomes]
rs2649899	1.00[EUR][1000 genomes]
rs2656814	0.96[EUR][1000 genomes]
rs55650312	0.88[EUR][1000 genomes]
rs55716280	1.00[EUR][1000 genomes]
rs56260598	0.80[EUR][1000 genomes]
rs56294931	0.80[EUR][1000 genomes]
rs59058900	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59769449	1.00[AMR][1000 genomes];0.96[EUR][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:123290600-123310400	Weak transcription	Aorta	Aorta
5	chr12:123291800-123304800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:123296400-123310200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:123298000-123310600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:123298400-123310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:123299600-123310600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:123301200-123304000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:123302200-123306000	Enhancers	Fetal Brain Male	brain
12	chr12:123302200-123312000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:123302600-123310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:123303000-123304000	Enhancers	HepG2	liver
15	chr12:123303400-123304400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:123303400-123304600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:123303600-123304000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:123303600-123304200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:123303600-123304200	Enhancers	Fetal Brain Female	brain
20	chr12:123303600-123304400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:123303600-123306200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:123303800-123304000	Enhancers	Fetal Muscle Leg	muscle
23	chr12:123303800-123304000	Enhancers	Gastric	stomach
24	chr12:123303800-123304000	Enhancers	Pancreas	Pancrea
25	chr12:123303800-123304200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:123303800-123304400	Enhancers	Brain Angular Gyrus	brain
27	chr12:123303800-123304400	Enhancers	Brain Anterior Caudate	brain
28	chr12:123303800-123304400	Enhancers	Brain Hippocampus Middle	brain
29	chr12:123303800-123305400	Enhancers	Primary B cells from peripheral blood	blood

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