Variant report

Variant	rs9596343
Chromosome Location	chr13:51331253-51331254
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51330144..51332927-chr13:51336662..51340363,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1323887	1.00[ASN][1000 genomes]
rs17074908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17074927	1.00[EUR][1000 genomes]
rs17350448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476619	1.00[ASN][1000 genomes]
rs2476624	1.00[ASN][1000 genomes]
rs2497094	1.00[ASN][1000 genomes]
rs73492049	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495626	1.00[EUR][1000 genomes]
rs74081116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74081118	1.00[ASN][1000 genomes]
rs7984960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990412	1.00[EUR][1000 genomes]
rs7990423	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7996529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591350	1.00[ASN][1000 genomes]
rs9596342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv437786	chr13:51318575-51331550	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51324200-51331800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51329200-51331400	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:51329600-51331400	Enhancers	Primary B cells from cord blood	blood
4	chr13:51329800-51331400	Enhancers	Fetal Thymus	thymus
5	chr13:51329800-51331800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:51330000-51331400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:51330000-51331400	Enhancers	Fetal Muscle Leg	muscle
8	chr13:51330000-51331600	Enhancers	HMEC	breast
9	chr13:51330400-51331400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:51330400-51331400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:51330400-51331800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:51330400-51331800	Flanking Active TSS	Dnd41	blood
13	chr13:51330600-51331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:51330600-51332000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:51330800-51331600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:51331000-51331400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:51331000-51331600	Enhancers	NHEK	skin
18	chr13:51331000-51342600	Weak transcription	HepG2	liver
19	chr13:51331200-51332000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:51331200-51336600	Weak transcription	Thymus	Thymus

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