Variant report

Variant	rs7979299
Chromosome Location	chr12:22065463-22065464
allele	A/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	STAT3	chr12:22064850-22065765	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr12:22064879-22065716	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr12:22064893-22065547	IMR90	lung:	n/a	chr12:22065069-22065080
4	STAT3	chr12:22065383-22065611	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:22064849-22065717	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
6	STAT3	chr12:22064980-22067736	MCF10A-Er-Src	breast:	n/a	chr12:22066079-22066087 chr12:22066752-22066759
7	STAT3	chr12:22064879-22065764	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:22065198-22065626	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
9	MYC	chr12:22064978-22065608	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr12:22065284-22065500	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:22065023-22065708	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457
12	FOS	chr12:22065211-22065643	MCF10A-Er-Src	breast:	n/a	chr12:22065448-22065456 chr12:22065447-22065457 chr12:22065447-22065457 chr12:22065447-22065457

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22061241..22063260-chr12:22065386..22067190,2	K562	blood:

Variant related genes	Relation type
ABCC9	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10743427	1.00[YRI][hapmap]
rs10770864	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10770865	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10841913	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1283796	1.00[AMR][1000 genomes]
rs1283803	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1283818	1.00[AMR][1000 genomes]
rs1517278	0.83[AFR][1000 genomes]
rs2544443	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4762718	1.00[AMR][1000 genomes]
rs697250	1.00[YRI][hapmap]
rs697251	1.00[YRI][hapmap]
rs704195	1.00[YRI][hapmap]
rs704199	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704200	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704201	1.00[AMR][1000 genomes]
rs704204	1.00[AMR][1000 genomes]
rs704207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704213	1.00[AMR][1000 genomes]
rs704214	1.00[AMR][1000 genomes]
rs704216	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs704218	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7975476	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs829067	1.00[AMR][1000 genomes]
rs829071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898900	chr12:22044843-22083212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv898901	chr12:22047174-22075960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv898902	chr12:22047174-22083212	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv557754	chr12:22051089-22072257	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv557755	chr12:22059617-22072257	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
3	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:22059400-22091800	Weak transcription	Liver	Liver
6	chr12:22060600-22065800	Weak transcription	NHLF	lung
7	chr12:22060800-22092200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:22061200-22083400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:22061600-22066400	Weak transcription	Adipose Nuclei	Adipose
10	chr12:22061800-22078200	Weak transcription	Left Ventricle	heart
11	chr12:22062000-22085600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:22062400-22066600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:22064200-22067600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:22064600-22067200	Enhancers	Osteobl	bone
15	chr12:22064600-22067400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:22064600-22067800	Enhancers	NHDF-Ad	bronchial
17	chr12:22064800-22066000	Enhancers	NH-A	brain
18	chr12:22064800-22067400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:22065000-22066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:22065000-22066400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:22065000-22067400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:22065000-22068600	Weak transcription	Brain Germinal Matrix	brain
23	chr12:22065200-22065800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:22065200-22066000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:22065200-22067400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:22065200-22077000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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