Variant report

Variant	rs1472523
Chromosome Location	chr12:117503823-117503824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117501550..117503831-chr12:117535985..117538295,2	MCF-7	breast:
2	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:
3	chr12:117486751..117489463-chr12:117503147..117505239,2	K562	blood:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10735100	0.89[JPT][hapmap]
rs10735101	0.89[JPT][hapmap]
rs10744887	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774895	0.94[JPT][hapmap]
rs10774898	0.88[JPT][hapmap]
rs10774899	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850734	0.89[JPT][hapmap]
rs10850745	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850746	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850747	0.92[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs10850751	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850752	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068299	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068300	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068301	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068306	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11611741	0.85[EUR][1000 genomes]
rs11832441	0.82[EUR][1000 genomes]
rs11834817	0.95[CEU][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11837022	0.85[EUR][1000 genomes]
rs12368876	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062528	0.86[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173654	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291911	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2291916	0.88[JPT][hapmap]
rs2393124	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782191	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3782192	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs4766816	0.89[JPT][hapmap]
rs4766823	0.88[JPT][hapmap]
rs4766825	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767477	0.88[JPT][hapmap]
rs55969361	0.82[EUR][1000 genomes]
rs58470318	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59756806	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490103	0.89[JPT][hapmap]
rs6490104	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490105	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6490106	0.92[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs6490107	0.85[EUR][1000 genomes]
rs7133090	0.88[JPT][hapmap]
rs7294692	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7297303	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7297917	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7486428	0.88[JPT][hapmap]
rs7953553	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7956481	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960638	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960731	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964668	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964686	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7968761	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7968891	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971795	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972416	0.85[EUR][1000 genomes]
rs7978810	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs9634171	0.96[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:117498800-117514600	Strong transcription	HepG2	liver
4	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117499200-117507600	Weak transcription	Right Atrium	heart
6	chr12:117499200-117507800	Weak transcription	Lung	lung
7	chr12:117499600-117506800	Weak transcription	K562	blood
8	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:117501000-117505000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:117501000-117507400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:117501200-117510000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:117501600-117504000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:117501600-117504800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117501600-117505400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:117501600-117505400	Enhancers	Fetal Thymus	thymus
17	chr12:117501600-117505400	Weak transcription	Right Ventricle	heart
18	chr12:117501600-117505400	Enhancers	Dnd41	blood
19	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
20	chr12:117502000-117504800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:117502000-117510600	Weak transcription	Thymus	Thymus
22	chr12:117502200-117505000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:117502400-117507000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:117502400-117514600	Weak transcription	Primary T cells from cord blood	blood
25	chr12:117502600-117508000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:117503000-117508000	Weak transcription	GM12878-XiMat	blood
28	chr12:117503000-117514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:117503200-117506600	Weak transcription	A549	lung
30	chr12:117503200-117507400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
32	chr12:117503400-117508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:117503400-117508000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:117503600-117504000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:117503600-117505400	Enhancers	Primary B cells from cord blood	blood
36	chr12:117503800-117504000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:117503800-117505400	Enhancers	Left Ventricle	heart
38	chr12:117503800-117506600	Enhancers	Fetal Heart	heart
39	chr12:117503800-117507800	Weak transcription	Pancreas	Pancrea

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