Variant report

Variant	rs722526
Chromosome Location	chr12:64564069-64564070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64562474..64564508-chr12:64614633..64616746,2	MCF-7	breast:
2	chr12:64563969..64566740-chr12:64567525..64570598,3	MCF-7	breast:
3	chr12:64561695..64564666-chr12:64604942..64606988,2	K562	blood:

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1021665	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10748002	0.81[ASN][1000 genomes]
rs10748003	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784385	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878110	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878111	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10878114	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10878115	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10878116	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10878117	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878118	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11175269	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11175270	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2643665	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3932167	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763139	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs699633	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs789711	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs789712	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789713	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789721	0.80[TSI][hapmap]
rs789748	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr12:64563200-64565000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:64563200-64566800	Enhancers	HMEC	breast
3	chr12:64563400-64564800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:64563400-64567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:64563400-64567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:64563400-64567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:64563400-64567800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:64563600-64564200	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:64563600-64564200	Enhancers	Brain Hippocampus Middle	brain
10	chr12:64563600-64564200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:64563600-64564200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:64563600-64564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:64563600-64564600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:64563600-64564800	Enhancers	Brain Germinal Matrix	brain
15	chr12:64563600-64565800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:64563600-64566000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:64563600-64566000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:64563600-64566200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:64563600-64566600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:64563600-64566600	Enhancers	HSMM	muscle
21	chr12:64563600-64566800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:64563600-64567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:64563600-64567600	Enhancers	NHDF-Ad	bronchial
24	chr12:64563600-64567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:64563600-64574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:64563800-64564200	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr12:64563800-64564200	Flanking Active TSS	NHEK	skin
28	chr12:64563800-64564400	Enhancers	Brain Anterior Caudate	brain
29	chr12:64563800-64564600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:64563800-64564600	Weak transcription	Placenta	Placenta
31	chr12:64563800-64564800	Enhancers	Fetal Brain Female	brain
32	chr12:64563800-64565400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:64563800-64565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:64563800-64566000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:64563800-64566000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:64563800-64566000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:64563800-64566000	Enhancers	NHLF	lung
38	chr12:64563800-64566200	Enhancers	NH-A	brain
39	chr12:64563800-64566600	Enhancers	HUVEC	blood vessel
40	chr12:64563800-64567600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:64563800-64567600	Enhancers	Osteobl	bone
42	chr12:64564000-64564200	Enhancers	HSMMtube	muscle
43	chr12:64564000-64564400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:64564000-64565200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:64564000-64568000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:64564000-64569000	Weak transcription	Fetal Brain Male	brain

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