Variant report

Variant	rs2052602
Chromosome Location	chr12:45647468-45647469
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	chr12:45628183..45630474-chr12:45646275..45648186,2	MCF-7	breast:
2	chr12:45646019..45648882-chr12:45651265..45654119,3	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10437984	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10459293	0.91[EUR][1000 genomes]
rs10459294	0.91[EUR][1000 genomes]
rs10492284	0.91[EUR][1000 genomes]
rs10748412	0.92[ASN][1000 genomes]
rs10785556	0.81[EUR][1000 genomes]
rs10785557	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880761	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880763	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880764	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182903	0.81[EUR][1000 genomes]
rs11182904	0.81[EUR][1000 genomes]
rs11182905	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182908	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11182912	0.89[EUR][1000 genomes]
rs11182913	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11182916	0.91[EUR][1000 genomes]
rs11182917	0.91[EUR][1000 genomes]
rs11182918	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182919	0.91[EUR][1000 genomes]
rs11182921	0.91[EUR][1000 genomes]
rs11182922	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11182923	0.91[EUR][1000 genomes]
rs11182927	0.91[EUR][1000 genomes]
rs11182931	0.91[EUR][1000 genomes]
rs11182935	0.91[EUR][1000 genomes]
rs11182936	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182938	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182939	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182940	0.91[EUR][1000 genomes]
rs11182941	0.91[EUR][1000 genomes]
rs11182942	0.81[EUR][1000 genomes]
rs11182943	0.91[EUR][1000 genomes]
rs11182944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182947	0.89[EUR][1000 genomes]
rs11182949	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11561532	0.91[EUR][1000 genomes]
rs11610233	0.81[EUR][1000 genomes]
rs11611509	0.81[EUR][1000 genomes]
rs11612203	0.91[EUR][1000 genomes]
rs11612233	0.91[EUR][1000 genomes]
rs11615850	0.91[EUR][1000 genomes]
rs12226944	0.82[EUR][1000 genomes]
rs12227678	0.91[EUR][1000 genomes]
rs12228733	0.81[EUR][1000 genomes]
rs12230322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231753	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12299174	0.81[EUR][1000 genomes]
rs12320168	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12320437	0.89[EUR][1000 genomes]
rs12322087	0.81[EUR][1000 genomes]
rs12814332	0.89[EUR][1000 genomes]
rs12815115	0.91[EUR][1000 genomes]
rs12815577	0.92[ASN][1000 genomes]
rs12822746	0.91[EUR][1000 genomes]
rs12828052	0.85[EUR][1000 genomes]
rs17095551	0.91[EUR][1000 genomes]
rs17095557	0.91[EUR][1000 genomes]
rs2052603	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408184	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408185	0.91[EUR][1000 genomes]
rs34024171	0.91[EUR][1000 genomes]
rs35054776	0.91[EUR][1000 genomes]
rs35588430	0.81[EUR][1000 genomes]
rs35660715	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759077	0.91[EUR][1000 genomes]
rs3759080	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759081	0.91[EUR][1000 genomes]
rs3759082	0.87[EUR][1000 genomes]
rs3782131	0.91[EUR][1000 genomes]
rs4768085	0.92[ASN][1000 genomes]
rs57797434	0.91[EUR][1000 genomes]
rs58444879	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61923810	0.91[EUR][1000 genomes]
rs61923825	0.91[EUR][1000 genomes]
rs61923830	0.91[EUR][1000 genomes]
rs7138983	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304481	0.92[ASN][1000 genomes]
rs7956033	0.85[ASN][1000 genomes]
rs7963038	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7963057	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964635	0.81[ASN][1000 genomes]
rs9739519	1.00[EUR][1000 genomes];0.98[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:65 , 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	chr12:45630000-45647800	Weak transcription	Right Ventricle	heart
7	chr12:45630000-45648600	Weak transcription	NHEK	skin
8	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:45630000-45651000	Weak transcription	HepG2	liver
10	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
15	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:45636400-45647800	Weak transcription	Fetal Stomach	stomach
17	chr12:45636400-45648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
21	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:45638800-45651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:45638800-45652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:45638800-45652200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:45639000-45648000	Weak transcription	Small Intestine	intestine
31	chr12:45639000-45649600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:45639000-45650800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:45639000-45651000	Weak transcription	Spleen	Spleen
34	chr12:45639000-45653200	Weak transcription	Placenta	Placenta
35	chr12:45639000-45653600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:45639400-45650200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:45639400-45650600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:45640600-45648000	Weak transcription	NHLF	lung
39	chr12:45640600-45650800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:45641600-45651000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:45641600-45651000	Weak transcription	Lung	lung
42	chr12:45641600-45652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:45641800-45649200	Weak transcription	GM12878-XiMat	blood
44	chr12:45641800-45650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:45642200-45648800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:45642600-45647800	Weak transcription	Left Ventricle	heart
47	chr12:45643000-45649800	Weak transcription	Ovary	ovary
48	chr12:45643000-45651000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:45643000-45652400	Weak transcription	HUVEC	blood vessel
50	chr12:45643800-45648400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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