Variant report

Variant	rs12063964
Chromosome Location	chr1:185758882-185758883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185755489..185757361-chr1:185758549..185760454,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1124757	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11581777	0.88[EUR][1000 genomes]
rs11583867	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11807146	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12057982	0.91[EUR][1000 genomes]
rs12078015	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12079064	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12083564	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12085167	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12087032	0.83[EUR][1000 genomes]
rs12098116	0.84[EUR][1000 genomes]
rs1321668	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1321669	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1321670	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322359	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1322362	0.94[EUR][1000 genomes]
rs1322364	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13374445	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13376668	0.81[EUR][1000 genomes]
rs1407429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407430	0.82[EUR][1000 genomes]
rs1407431	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1552281	0.89[ASN][1000 genomes]
rs16824516	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824564	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16824576	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17446906	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17447869	0.91[EUR][1000 genomes]
rs17448202	0.89[EUR][1000 genomes]
rs17448216	0.88[EUR][1000 genomes]
rs17448230	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17505819	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17507044	0.81[EUR][1000 genomes]
rs17507170	0.89[EUR][1000 genomes]
rs2057381	0.89[EUR][1000 genomes]
rs2057382	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2057383	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2057384	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2057385	0.89[EUR][1000 genomes]
rs2129125	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2170859	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2220128	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35314812	0.84[EUR][1000 genomes]
rs35425624	0.89[ASN][1000 genomes]
rs41458549	0.88[EUR][1000 genomes]
rs4515745	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4593772	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4596837	0.89[ASN][1000 genomes]
rs4651287	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651288	0.93[EUR][1000 genomes]
rs57398679	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57686227	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61829860	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61829884	0.81[EUR][1000 genomes]
rs61831528	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61831532	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6660510	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6692479	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7414598	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7544533	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9628625	0.83[EUR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185753600-185759600	Weak transcription	Pancreas	Pancrea
2	chr1:185755200-185759400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:185755200-185760000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185755400-185766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:185756400-185761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:185757600-185760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:185757600-185760200	Enhancers	Fetal Intestine Large	intestine
8	chr1:185757800-185760000	Enhancers	Osteobl	bone
9	chr1:185758000-185759200	Weak transcription	HUVEC	blood vessel
10	chr1:185758000-185760000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:185758200-185759200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:185758400-185759600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:185758400-185759600	Enhancers	Fetal Kidney	kidney
14	chr1:185758400-185759800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:185758400-185759800	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:185758400-185759800	Enhancers	Right Atrium	heart
17	chr1:185758400-185760000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:185758400-185760000	Enhancers	Aorta	Aorta
19	chr1:185758400-185760000	Enhancers	Fetal Heart	heart
20	chr1:185758600-185759000	Weak transcription	Left Ventricle	heart
21	chr1:185758600-185759800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:185758800-185759000	Weak transcription	Gastric	stomach
23	chr1:185758800-185759200	Enhancers	Fetal Lung	lung
24	chr1:185758800-185759600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:185758800-185759800	Enhancers	NHDF-Ad	bronchial
26	chr1:185758800-185760000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:185758800-185760000	Enhancers	Adipose Nuclei	Adipose
28	chr1:185758800-185760000	Enhancers	Fetal Intestine Small	intestine

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