Variant report

Variant	rs1332624
Chromosome Location	chr10:45402325-45402326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr10:45402292-45402734	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45401587..45403643-chr10:45414923..45417253,2	MCF-7	breast:

Variant related genes	Relation type
TMEM72	TF binding region
ENSG00000234504	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12772980	0.84[EUR][1000 genomes]
rs1325161	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1332626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157217	0.95[ASN][1000 genomes]
rs17415835	0.94[EUR][1000 genomes]
rs17416363	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17507375	0.92[EUR][1000 genomes]
rs17507956	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1977584	0.87[EUR][1000 genomes]
rs58414517	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61852546	0.94[EUR][1000 genomes]
rs61853972	0.92[EUR][1000 genomes]
rs61853973	0.94[EUR][1000 genomes]
rs61853975	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61853976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7074794	0.91[CEU][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs73277463	0.89[EUR][1000 genomes]
rs7903148	1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45398600-45403400	Weak transcription	Fetal Lung	lung
2	chr10:45398600-45406800	Weak transcription	Right Ventricle	heart
3	chr10:45399000-45403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:45399000-45403200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:45399200-45403200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr10:45399200-45406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:45399200-45406400	Weak transcription	Right Atrium	heart
8	chr10:45399400-45403400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:45399400-45403400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:45399400-45403800	Weak transcription	Pancreas	Pancrea
11	chr10:45399600-45403200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:45400200-45403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:45400200-45403000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:45400200-45405400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:45401000-45402800	Enhancers	Fetal Thymus	thymus
16	chr10:45401200-45402800	Weak transcription	Fetal Stomach	stomach
17	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
18	chr10:45401600-45402400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:45401600-45403400	Enhancers	Fetal Kidney	kidney
20	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
21	chr10:45401800-45403400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:45402000-45402400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:45402000-45405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
25	chr10:45402200-45402400	Enhancers	Adipose Nuclei	Adipose
26	chr10:45402200-45403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:45402200-45403200	Weak transcription	HSMMtube	muscle

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