Variant report

Variant	rs7721790
Chromosome Location	chr5:43562632-43562633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43562535..43565589-chr5:43568381..43570890,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10039298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10068155	1.00[AMR][1000 genomes]
rs10805677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941641	0.88[LWK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11741521	0.88[LWK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12514093	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4302596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4404685	1.00[AMR][1000 genomes]
rs4510596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4513705	1.00[AMR][1000 genomes]
rs4549534	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4597976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4640799	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863997	1.00[AMR][1000 genomes]
rs6872851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6874647	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876588	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6896358	1.00[AMR][1000 genomes]
rs6897657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7717328	1.00[AMR][1000 genomes]
rs7719588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7722475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737410	1.00[AMR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43563400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:43557800-43563400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:43557800-43571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
5	chr5:43558000-43563400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:43558000-43563400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:43559200-43562800	Enhancers	NHDF-Ad	bronchial
8	chr5:43559800-43562800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:43560200-43562800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:43560200-43584400	Weak transcription	K562	blood
11	chr5:43561000-43564600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:43561200-43565400	Weak transcription	HepG2	liver
13	chr5:43562000-43570400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:43562200-43563400	Weak transcription	NHLF	lung
15	chr5:43562200-43563400	Weak transcription	Osteobl	bone
16	chr5:43562400-43563400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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