Variant report

Variant	rs12152652
Chromosome Location	chr4:20753490-20753491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10017693	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10018931	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10022322	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10024002	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10025286	0.84[EUR][1000 genomes]
rs10034054	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10084802	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10805219	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941041	0.85[EUR][1000 genomes]
rs11944886	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12331966	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12644782	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12650007	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869886	0.85[EUR][1000 genomes]
rs16869889	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1985322	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2052775	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2114472	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2114473	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2162413	0.95[ASN][1000 genomes]
rs2288308	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2322688	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28524474	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28637181	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28714128	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28788006	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3764964	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3764966	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3815872	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4414951	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4431223	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4510461	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4640668	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55847423	1.00[ASN][1000 genomes]
rs57740160	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59335491	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62410159	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6447974	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6447975	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447976	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6447978	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447982	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6811030	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6811505	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6817475	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6831295	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831516	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7438098	0.82[EUR][1000 genomes]
rs7655154	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7660006	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666288	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7673805	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7674453	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7681691	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7685481	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7696618	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs990206	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9995438	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20730600-20757600	Weak transcription	HSMM	muscle
2	chr4:20732600-20758400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:20739200-20761200	Weak transcription	Fetal Heart	heart
4	chr4:20739600-20755200	Weak transcription	K562	blood
5	chr4:20740200-20755200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:20740600-20754800	Weak transcription	Dnd41	blood
7	chr4:20740600-20756600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:20740600-20757200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:20740600-20763600	Weak transcription	Brain Anterior Caudate	brain
10	chr4:20740800-20756000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:20740800-20757200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:20740800-20757600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:20740800-20763600	Weak transcription	HSMMtube	muscle
14	chr4:20740800-20770600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:20740800-20791200	Weak transcription	Ovary	ovary
16	chr4:20741000-20753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:20741000-20757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:20741600-20754200	Weak transcription	Fetal Lung	lung
19	chr4:20741600-20756200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:20741800-20757400	Weak transcription	Primary T cells from cord blood	blood
21	chr4:20745600-20757600	Weak transcription	NHEK	skin
22	chr4:20746800-20761400	Weak transcription	Aorta	Aorta
23	chr4:20746800-20775000	Weak transcription	Left Ventricle	heart
24	chr4:20747200-20754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:20747200-20757600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:20747400-20755400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:20747400-20755800	Weak transcription	Fetal Brain Female	brain
28	chr4:20747600-20754200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:20747600-20754600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:20747600-20755800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:20747800-20754200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:20747800-20757400	Weak transcription	Fetal Intestine Large	intestine
33	chr4:20748000-20756200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:20748200-20754000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:20749600-20756400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:20749600-20763800	Weak transcription	Brain Germinal Matrix	brain
37	chr4:20750000-20754800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:20751000-20757000	Weak transcription	Primary B cells from cord blood	blood
39	chr4:20751600-20754800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:20752200-20754000	Weak transcription	Liver	Liver
41	chr4:20752800-20755000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:20753000-20760400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:20753400-20755200	Strong transcription	Adipose Nuclei	Adipose
44	chr4:20753400-20756200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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