Variant report

Variant	rs11182949
Chromosome Location	chr12:45650024-45650025
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45647735..45650702-chr12:45991253..45994060,2	K562	blood:
2	chr12:45649985..45652143-chr12:45652461..45655864,3	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1015626	0.82[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap]
rs10437984	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10459293	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10459294	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10492284	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10748412	0.94[ASN][1000 genomes]
rs10785556	1.00[TSI][hapmap]
rs10785557	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785566	0.82[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap]
rs10880755	0.86[JPT][hapmap]
rs10880760	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880761	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880763	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182899	0.88[AMR][1000 genomes]
rs11182904	1.00[TSI][hapmap]
rs11182905	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11182908	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11182912	0.87[EUR][1000 genomes]
rs11182913	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11182916	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182917	0.89[EUR][1000 genomes]
rs11182918	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182919	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182921	0.89[EUR][1000 genomes]
rs11182922	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11182923	0.89[EUR][1000 genomes]
rs11182927	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182931	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182935	0.89[EUR][1000 genomes]
rs11182936	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182938	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182939	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182940	0.89[EUR][1000 genomes]
rs11182941	0.89[EUR][1000 genomes]
rs11182943	0.89[EUR][1000 genomes]
rs11182944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182947	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11561532	0.89[EUR][1000 genomes]
rs11612203	0.89[EUR][1000 genomes]
rs11612233	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11615850	0.89[EUR][1000 genomes]
rs12227678	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs12230322	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12231753	0.90[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12320168	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12320437	0.87[EUR][1000 genomes]
rs12814332	0.91[EUR][1000 genomes]
rs12815115	0.89[EUR][1000 genomes]
rs12815577	0.95[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12822746	0.89[EUR][1000 genomes]
rs12828052	0.83[EUR][1000 genomes]
rs17095551	0.89[EUR][1000 genomes]
rs17095557	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17095584	0.88[LWK][hapmap];0.82[YRI][hapmap]
rs1913692	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2052602	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2052603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408184	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408185	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs34024171	0.89[EUR][1000 genomes]
rs35054776	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs35660715	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759077	0.89[EUR][1000 genomes]
rs3759080	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759081	0.89[EUR][1000 genomes]
rs3759082	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs3782131	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4768085	0.95[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4768601	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs57797434	0.89[EUR][1000 genomes]
rs58444879	0.96[ASN][1000 genomes]
rs61923810	0.89[EUR][1000 genomes]
rs61923825	0.89[EUR][1000 genomes]
rs61923830	0.89[EUR][1000 genomes]
rs7138247	0.82[CHB][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap]
rs7138983	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728590	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7304481	0.95[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7307262	0.82[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap]
rs7309615	0.88[GIH][hapmap];0.86[JPT][hapmap]
rs7954282	0.88[MEX][hapmap]
rs7956033	0.85[ASN][1000 genomes]
rs7963038	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963057	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964635	0.80[ASN][1000 genomes]
rs7965430	0.82[CHB][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap]
rs7971900	0.86[JPT][hapmap]
rs9739519	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45629800-45651000	Weak transcription	K562	blood
4	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:45630000-45651000	Weak transcription	HepG2	liver
8	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
13	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
16	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:45638800-45651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:45639000-45650800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:45639000-45651000	Weak transcription	Spleen	Spleen
27	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
28	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:45639400-45650200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:45639400-45650600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:45640600-45650800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:45641600-45651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:45641600-45651000	Weak transcription	Lung	lung
34	chr12:45641600-45652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:45643000-45651000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:45643000-45652400	Weak transcription	HUVEC	blood vessel
37	chr12:45644000-45650600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:45644000-45653200	Weak transcription	Fetal Kidney	kidney
39	chr12:45644600-45651000	Weak transcription	HMEC	breast
40	chr12:45645600-45650600	Weak transcription	Fetal Thymus	thymus
41	chr12:45645600-45650800	Weak transcription	Psoas Muscle	Psoas
42	chr12:45645600-45651000	Weak transcription	Right Atrium	heart
43	chr12:45645800-45650800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:45646600-45653800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:45647200-45650800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:45647400-45652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:45648000-45657400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:45648200-45650800	Weak transcription	Fetal Lung	lung
49	chr12:45648200-45650800	Weak transcription	Fetal Stomach	stomach
50	chr12:45648200-45650800	Weak transcription	Right Ventricle	heart

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