Variant report

Variant	rs11183504
Chromosome Location	chr12:46880770-46880771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46872950..46874891-chr12:46879914..46882700,2	K562	blood:
2	chr12:46764043..46767775-chr12:46879403..46882999,4	K562	blood:
3	chr12:46848932..46850742-chr12:46879031..46882024,2	MCF-7	breast:
4	chr12:46868625..46870317-chr12:46878196..46880801,2	MCF-7	breast:
5	chr12:46776146..46779343-chr12:46878535..46880853,3	MCF-7	breast:
6	chr12:46872950..46875847-chr12:46879914..46883290,3	K562	blood:
7	chr12:46765269..46767816-chr12:46880276..46882209,2	MCF-7	breast:
8	chr12:46844381..46845899-chr12:46880560..46882516,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10748450	0.86[AMR][1000 genomes]
rs10785628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10785629	0.86[AMR][1000 genomes]
rs10880969	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs10880973	0.86[AMR][1000 genomes]
rs10880974	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183456	1.00[CHB][hapmap]
rs11183478	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap]
rs11183479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11183483	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.80[MKK][hapmap]
rs11183502	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183503	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183521	1.00[LWK][hapmap]
rs1125909	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11837427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313929	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12824565	0.89[MEX][hapmap]
rs12827740	0.82[AMR][1000 genomes]
rs1472178	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs1667	1.00[LWK][hapmap]
rs2131371	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap]
rs2252238	0.95[CEU][hapmap];0.93[CHD][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap]
rs3925101	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3936214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4077707	0.88[MEX][hapmap];0.90[AMR][1000 genomes]
rs4077708	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4258438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4427617	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768118	0.89[MEX][hapmap]
rs4768123	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4768709	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768716	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap]
rs4768723	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768724	0.86[AMR][1000 genomes]
rs4768725	0.86[AMR][1000 genomes]
rs4768726	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768727	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4768728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768730	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768733	0.95[CEU][hapmap]
rs6582636	0.89[JPT][hapmap]
rs6582657	0.82[GIH][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes]
rs6582658	0.86[AMR][1000 genomes]
rs6582659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582660	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6582661	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6582663	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7485599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7486915	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7488144	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7488577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954645	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7956314	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7959731	0.89[MEX][hapmap]
rs7960808	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7964767	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7980455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669404	0.89[MEX][hapmap]
rs9706162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9706460	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9706520	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9971879	0.89[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:46868000-46881200	Weak transcription	GM12878-XiMat	blood
3	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
4	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
5	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
6	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
9	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:46873600-46886000	Weak transcription	HSMM	muscle
11	chr12:46874800-46883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:46877600-46881200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:46877800-46883200	Weak transcription	NHEK	skin
14	chr12:46878000-46881000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:46878000-46883200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:46878000-46883400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:46878000-46883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:46878000-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:46878000-46885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:46878000-46887400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:46878200-46881400	Weak transcription	Osteobl	bone
22	chr12:46878200-46882400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:46878200-46883000	Weak transcription	Ovary	ovary
24	chr12:46878200-46883000	Weak transcription	HMEC	breast
25	chr12:46878200-46883200	Weak transcription	NHLF	lung
26	chr12:46878200-46883400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:46878200-46883400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:46878200-46883400	Weak transcription	Liver	Liver
29	chr12:46878200-46883400	Weak transcription	Right Atrium	heart
30	chr12:46878200-46886600	Enhancers	HepG2	liver
31	chr12:46878200-46887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:46878400-46883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:46878600-46881200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:46878600-46886000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:46878800-46880800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:46878800-46881200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:46879200-46881000	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:46879400-46882600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:46879800-46882600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:46880000-46883000	Weak transcription	A549	lung
41	chr12:46880000-46886000	Weak transcription	Right Ventricle	heart
42	chr12:46880200-46882000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:46880400-46880800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr12:46880400-46881000	Enhancers	Placenta	Placenta
45	chr12:46880400-46881200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:46880400-46881200	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:46880400-46881200	Enhancers	Spleen	Spleen
48	chr12:46880400-46881600	Enhancers	Hela-S3	cervix
49	chr12:46880400-46881800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr12:46880600-46881800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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