Variant report

Variant	rs12312780
Chromosome Location	chr12:57615958-57615959
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	chr12:57596578..57599485-chr12:57615130..57617004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10083191	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172151	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172167	1.00[AMR][1000 genomes]
rs11172213	1.00[AMR][1000 genomes]
rs12296737	1.00[AMR][1000 genomes]
rs12299952	0.88[AFR][1000 genomes]
rs12310527	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[AMR][1000 genomes]
rs12310686	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312567	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314262	1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	1.00[AMR][1000 genomes]
rs12317318	1.00[AMR][1000 genomes]
rs12317897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	1.00[AMR][1000 genomes]
rs12322158	1.00[AMR][1000 genomes]
rs12322514	1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs17119482	1.00[AMR][1000 genomes]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35827450	0.88[LWK][hapmap];0.96[AFR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[AMR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57611400-57623000	Weak transcription	Right Atrium	heart
2	chr12:57611800-57618400	Weak transcription	Pancreas	Pancrea
3	chr12:57612600-57617400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr12:57612800-57616800	Bivalent Enhancer	Fetal Intestine Large	intestine
5	chr12:57612800-57618000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57613200-57621800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:57613400-57620400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:57613400-57621600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr12:57613800-57616000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr12:57613800-57620000	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr12:57614000-57616600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr12:57614000-57618800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr12:57614400-57616000	Enhancers	K562	blood
14	chr12:57614400-57616600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:57614600-57618000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr12:57614800-57616200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
17	chr12:57615000-57616000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr12:57615000-57622800	Weak transcription	A549	lung
19	chr12:57615200-57616000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
20	chr12:57615200-57617200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr12:57615400-57617800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:57615400-57618800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:57615600-57616000	Bivalent Enhancer	HepG2	liver
24	chr12:57615600-57616600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:57615600-57617000	Bivalent Enhancer	Fetal Brain Female	brain
26	chr12:57615600-57617400	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr12:57615800-57616000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr12:57615800-57616200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr12:57615800-57616600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:57615800-57616800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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