Variant report

Variant	rs10490507
Chromosome Location	chr2:53462322-53462323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53460268..53462770-chr2:53469491..53472364,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10174283	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10187510	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10203126	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10203948	0.88[EUR][1000 genomes]
rs11125477	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13386430	0.86[ASN][1000 genomes]
rs13388576	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13396352	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13399090	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13411705	0.86[ASN][1000 genomes]
rs4672264	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62139701	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62139702	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309247	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9678360	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9679083	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751897	chr2:53358205-53475338	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53456600-53464000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:53459600-53464200	Enhancers	Dnd41	blood
3	chr2:53459800-53462600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:53460200-53463000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:53460800-53462800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:53461000-53462800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:53461000-53463000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:53461200-53463000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:53461200-53463200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:53461400-53463000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:53461400-53463000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:53461400-53463000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:53461400-53464000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:53461400-53464200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:53461600-53462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:53461600-53463600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:53461600-53463800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:53461800-53463200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:53462000-53462400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:53462000-53463000	Weak transcription	Fetal Thymus	thymus
21	chr2:53462000-53463600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:53462000-53464200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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