Variant report

Variant	rs72952513
Chromosome Location	chr4:147281127-147281128
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	chr4:147280177..147282704-chr4:147285099..147286866,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs2244316	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244317	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244318	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244840	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244850	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245274	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245282	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248347	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248348	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248826	1.00[AMR][1000 genomes]
rs2255242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256112	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2262884	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460033	1.00[AMR][1000 genomes]
rs2630277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630278	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630292	1.00[AMR][1000 genomes]
rs2630294	1.00[AMR][1000 genomes]
rs2630299	1.00[AMR][1000 genomes]
rs2630300	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630306	1.00[AMR][1000 genomes]
rs2679121	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679128	1.00[AMR][1000 genomes]
rs2679130	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679131	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679134	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679135	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679151	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679153	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679160	1.00[AMR][1000 genomes]
rs4027057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950672	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950679	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950681	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950682	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950684	1.00[AMR][1000 genomes]
rs72950690	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv3400231	chr4:147269396-147292066	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147271600-147281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:147276200-147292400	Weak transcription	Aorta	Aorta
4	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
5	chr4:147277600-147287000	Weak transcription	Small Intestine	intestine
6	chr4:147281000-147282800	Strong transcription	Primary B cells from cord blood	blood

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