Variant report

Variant	rs73120022
Chromosome Location	chr12:57613780-57613781
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	chr12:57608303..57611284-chr12:57611816..57613934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182379	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11612551	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11615783	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12370981	0.86[EUR][1000 genomes]
rs61736007	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7485577	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv899116	chr12:57597169-57623363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57609800-57614600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:57611200-57613800	Bivalent Enhancer	Fetal Heart	heart
3	chr12:57611400-57614600	Bivalent Enhancer	Fetal Lung	lung
4	chr12:57611400-57614600	Bivalent Enhancer	Fetal Stomach	stomach
5	chr12:57611400-57615400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr12:57611400-57623000	Weak transcription	Right Atrium	heart
7	chr12:57611600-57613800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:57611800-57614200	Weak transcription	Right Ventricle	heart
9	chr12:57611800-57615600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr12:57611800-57618400	Weak transcription	Pancreas	Pancrea
11	chr12:57612000-57614400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:57612600-57614000	Bivalent Enhancer	Fetal Kidney	kidney
13	chr12:57612600-57617400	Bivalent Enhancer	Fetal Brain Male	brain
14	chr12:57612800-57613800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr12:57612800-57614600	Weak transcription	A549	lung
16	chr12:57612800-57616800	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr12:57612800-57618000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:57613000-57613800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:57613000-57614000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
20	chr12:57613200-57613800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:57613200-57615800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr12:57613200-57621800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:57613400-57613800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
24	chr12:57613400-57613800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr12:57613400-57613800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:57613400-57614000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:57613400-57615600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:57613400-57615800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:57613400-57620400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr12:57613400-57621600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr12:57613600-57613800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr12:57613600-57613800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:57613600-57613800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:57613600-57613800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:57613600-57613800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:57613600-57613800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:57613600-57613800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:57613600-57613800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
39	chr12:57613600-57614000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:57613600-57614000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
41	chr12:57613600-57614000	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr12:57613600-57614400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:57613600-57614400	Bivalent Enhancer	Fetal Thymus	thymus
44	chr12:57613600-57614800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr12:57613600-57615600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr12:57613600-57615600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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