Variant report

Variant	rs1512263
Chromosome Location	chr9:100510068-100510069
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	chr20:47360676..47363617-chr9:100509407..100511558,2	MCF-7	breast:
2	chr9:100508324..100510279-chr9:100516593..100518821,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1512262	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924027	0.82[EUR][1000 genomes]
rs16924040	0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16924042	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16924053	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57489136	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs59320519	0.98[EUR][1000 genomes]
rs60789150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60847735	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73484450	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73484452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73484459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73484460	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73484463	0.98[EUR][1000 genomes]
rs73484465	0.98[EUR][1000 genomes]
rs73484466	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73484469	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73484472	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][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	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv614934	chr9:100482976-100550253	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100504000-100514000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:100507200-100513600	Enhancers	Fetal Intestine Small	intestine
3	chr9:100509000-100511000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:100509000-100513200	Enhancers	Fetal Intestine Large	intestine
5	chr9:100509200-100510600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:100509200-100511000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:100509400-100510200	Enhancers	HepG2	liver
8	chr9:100509400-100510400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:100509400-100511200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:100509400-100511400	Enhancers	HSMMtube	muscle
11	chr9:100509400-100511600	Enhancers	Adipose Nuclei	Adipose
12	chr9:100509600-100510200	Enhancers	Small Intestine	intestine
13	chr9:100509600-100510200	Enhancers	Stomach Mucosa	stomach
14	chr9:100509600-100510400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:100509600-100510600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:100509600-100510600	Enhancers	HSMM	muscle
17	chr9:100509600-100511000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:100509600-100511000	Enhancers	Esophagus	oesophagus
19	chr9:100509600-100511200	Enhancers	Placenta	Placenta
20	chr9:100509800-100510200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:100509800-100510600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:100510000-100510800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:100510000-100510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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