Variant report

Variant	rs73500300
Chromosome Location	chr13:51034152-51034153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51028188..51030046-chr13:51031680..51034469,2	K562	blood:
2	chr13:50698404..50700652-chr13:51032560..51035012,2	MCF-7	breast:
3	chr13:51032344..51035128-chr13:51035167..51037188,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	1.00[EUR][1000 genomes]
rs56222340	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs57723811	1.00[EUR][1000 genomes]
rs57938299	1.00[EUR][1000 genomes]
rs58111567	1.00[AMR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58521176	1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59137919	1.00[EUR][1000 genomes]
rs59563441	1.00[EUR][1000 genomes]
rs59729773	1.00[EUR][1000 genomes]
rs59951137	1.00[EUR][1000 genomes]
rs60147627	1.00[EUR][1000 genomes]
rs61382687	1.00[EUR][1000 genomes]
rs7324132	1.00[EUR][1000 genomes]
rs7337343	1.00[EUR][1000 genomes]
rs73483957	1.00[EUR][1000 genomes]
rs73483973	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs73495865	1.00[EUR][1000 genomes]
rs73495869	1.00[EUR][1000 genomes]
rs73495873	1.00[EUR][1000 genomes]
rs73495880	1.00[EUR][1000 genomes]
rs73495885	1.00[EUR][1000 genomes]
rs73495888	1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	1.00[EUR][1000 genomes]
rs73498061	1.00[EUR][1000 genomes]
rs73498091	1.00[EUR][1000 genomes]
rs73498093	1.00[EUR][1000 genomes]
rs73498096	1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500241	1.00[EUR][1000 genomes]
rs73500242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500246	1.00[EUR][1000 genomes]
rs73500250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500270	1.00[EUR][1000 genomes]
rs73500278	1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs73500287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500290	1.00[EUR][1000 genomes]
rs73500302	1.00[EUR][1000 genomes]
rs73502108	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73502118	1.00[EUR][1000 genomes]
rs73502137	1.00[EUR][1000 genomes]
rs74079205	1.00[EUR][1000 genomes]
rs74079217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74079242	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7992035	1.00[AMR][1000 genomes]
rs7996036	1.00[EUR][1000 genomes]
rs9591331	1.00[EUR][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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51022600-51034200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:51030600-51050000	Weak transcription	Fetal Lung	lung
3	chr13:51030800-51040600	Weak transcription	Fetal Stomach	stomach
4	chr13:51032000-51034800	Weak transcription	Primary B cells from cord blood	blood
5	chr13:51032000-51034800	Enhancers	Fetal Heart	heart
6	chr13:51033000-51034200	Enhancers	K562	blood
7	chr13:51033200-51034800	Enhancers	Left Ventricle	heart
8	chr13:51033400-51034800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:51033400-51034800	Enhancers	Right Atrium	heart
10	chr13:51033400-51035400	Weak transcription	Fetal Kidney	kidney
11	chr13:51033600-51034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:51033800-51041200	Weak transcription	Right Ventricle	heart

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