Variant report

Variant	rs4597976
Chromosome Location	chr5:43564770-43564771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43563571..43565938-chr5:43608423..43610128,2	K562	blood:
2	chr5:43562535..43565589-chr5:43568381..43570890,3	K562	blood:
3	chr5:43562817..43565608-chr5:43599983..43604180,4	MCF-7	breast:
4	chr5:43564714..43567873-chr5:43601188..43604304,3	K562	blood:
5	chr5:43555748..43558425-chr5:43564053..43566136,2	MCF-7	breast:
6	chr5:43563244..43565362-chr5:43568381..43570262,2	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112992	Chromatin interaction

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

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

rs_ID	r²[population]
rs10039298	1.00[AMR][1000 genomes]
rs10068155	1.00[AMR][1000 genomes]
rs10805677	1.00[AMR][1000 genomes]
rs10941641	1.00[AMR][1000 genomes]
rs11741521	1.00[AMR][1000 genomes]
rs12514093	1.00[AMR][1000 genomes]
rs4302596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4404685	1.00[AMR][1000 genomes]
rs4510596	1.00[AMR][1000 genomes]
rs4513705	1.00[AMR][1000 genomes]
rs4549534	1.00[AMR][1000 genomes]
rs4640799	1.00[AMR][1000 genomes]
rs4866748	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866749	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451714	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863997	1.00[AMR][1000 genomes]
rs6872851	1.00[AMR][1000 genomes]
rs6874647	1.00[AMR][1000 genomes]
rs6876588	1.00[AMR][1000 genomes]
rs6896358	1.00[AMR][1000 genomes]
rs6897657	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7717328	1.00[AMR][1000 genomes]
rs7719588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7721790	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7722475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732089	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
3	chr5:43560200-43584400	Weak transcription	K562	blood
4	chr5:43561200-43565400	Weak transcription	HepG2	liver
5	chr5:43562000-43570400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:43563400-43564800	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:43563400-43564800	Enhancers	NHDF-Ad	bronchial
8	chr5:43563600-43568200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:43564000-43565000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:43564000-43574800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:43564600-43564800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:43564600-43571000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:43564600-43575000	Weak transcription	Fetal Stomach	stomach
14	chr5:43564600-43580200	Weak transcription	Fetal Kidney	kidney

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