Variant report

Variant	rs72950681
Chromosome Location	chr4:147264589-147264590
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	chr4:147263518..147264744-chr4:148017893..148018774,4	K562	blood:

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	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	1.00[AMR][1000 genomes]
rs2630292	1.00[AMR][1000 genomes]
rs2630294	1.00[AMR][1000 genomes]
rs2630299	1.00[AMR][1000 genomes]
rs2630300	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	1.00[AMR][1000 genomes]
rs2679131	1.00[AMR][1000 genomes]
rs2679134	1.00[AMR][1000 genomes]
rs2679135	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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494546	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404214	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816058	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950672	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950684	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950690	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950697	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952504	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952506	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952508	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952510	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952511	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952513	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952515	0.80[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	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3443192	chr4:147225234-147271217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3468025	chr4:147225279-147271172	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3468026	chr4:147225279-147271172	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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

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	chr4:147264000-147264800	Enhancers	GM12878-XiMat	blood
3	chr4:147264200-147264600	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:147264200-147264800	Enhancers	HUVEC	blood vessel
5	chr4:147264400-147264600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr4:147264400-147265400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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