Variant report

Variant	rs12589672
Chromosome Location	chr14:36993906-36993907
allele	A/T
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	CTCF	chr14:36993900-36994050	GM12869	blood:	n/a	n/a
2	CTCF	chr14:36993839-36995370	A549	lung:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167 chr14:36994888-36994901 chr14:36994887-36994903
3	CTCF	chr14:36993873-36995108	HepG2	liver:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167 chr14:36994888-36994901 chr14:36994887-36994903
4	SUZ12	chr14:36990826-36995085	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr14:36993543-36993957	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr14:36993358-36995031	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr14:36993405-36994458	H1-hESC	embryonic stem cell:	n/a	chr14:36993567-36993577 chr14:36993843-36993861 chr14:36993838-36993857

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36986593..36988111-chr14:36992508..36994903,2	MCF-7	breast:

Variant related genes	Relation type
NKX2-1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10483472	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12589521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891724	0.89[ASN][1000 genomes]
rs12894724	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12895465	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17176043	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17765733	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2075578	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34325207	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35710229	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3809437	0.92[JPT][hapmap]
rs8015279	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36991600-36995000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36993400-36994200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:36993400-36994400	Enhancers	Gastric	stomach
4	chr14:36993400-36994800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:36993400-36995200	Bivalent Enhancer	Liver	Liver
6	chr14:36993600-36994000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:36993600-36994000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:36993600-36994400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr14:36993600-36994600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:36993600-36994800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:36993600-36995000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:36993600-36995000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr14:36993800-36994000	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr14:36993800-36994000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
15	chr14:36993800-36994000	Bivalent Enhancer	Brain Substantia Nigra	brain
16	chr14:36993800-36994000	Bivalent Enhancer	Esophagus	oesophagus
17	chr14:36993800-36994000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:36993800-36994000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
19	chr14:36993800-36994200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr14:36993800-36994800	Bivalent Enhancer	Colonic Mucosa	Colon
21	chr14:36993800-36994800	Bivalent Enhancer	Right Ventricle	heart
22	chr14:36993800-36995000	Enhancers	Pancreas	Pancrea

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