Variant report

Variant	rs61978619
Chromosome Location	chr12:57616802-57616803
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr12:57616649-57617014	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:57616555-57616914	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:57616622-57616954	HepG2	liver:	n/a	n/a
4	FOXA1	chr12:57616512-57616926	HepG2	liver:	n/a	n/a
5	FOXA2	chr12:57616600-57616925	HepG2	liver:	n/a	n/a

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
ENSG00000202067	TF binding region
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11172219	1.00[EUR][1000 genomes]
rs11557166	1.00[EUR][1000 genomes]
rs17854829	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28365863	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34248177	1.00[EUR][1000 genomes]
rs34950222	1.00[EUR][1000 genomes]
rs35021926	1.00[EUR][1000 genomes]
rs56273568	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62620661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304504	1.00[EUR][1000 genomes]
rs74093103	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74093104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74093113	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74093115	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74093117	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:24 , 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	chr12:57612800-57618000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:57613200-57621800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:57613400-57620400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr12:57613400-57621600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr12:57613800-57620000	Bivalent Enhancer	Primary B cells from cord blood	blood
9	chr12:57614000-57618800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr12:57614600-57618000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr12:57615000-57622800	Weak transcription	A549	lung
12	chr12:57615200-57617200	Bivalent Enhancer	Fetal Thymus	thymus
13	chr12:57615400-57617800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:57615400-57618800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:57615600-57617000	Bivalent Enhancer	Fetal Brain Female	brain
16	chr12:57615600-57617400	Bivalent Enhancer	Brain Germinal Matrix	brain
17	chr12:57616000-57617000	Weak transcription	K562	blood
18	chr12:57616200-57617600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr12:57616200-57617800	Bivalent Enhancer	HepG2	liver
20	chr12:57616400-57617400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr12:57616600-57617000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:57616800-57617000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:57616800-57617400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:57616800-57617600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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