Variant report

Variant	rs7704552
Chromosome Location	chr5:5016697-5016698
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	chr5:5013892..5018267-chr5:5019017..5021975,4	K562	blood:
2	chr5:5016117..5018968-chr5:5021980..5023753,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10042432	0.84[ASN][1000 genomes]
rs11134088	0.83[ASN][1000 genomes]
rs11955794	0.82[ASN][1000 genomes]
rs17705560	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2003929	0.83[ASN][1000 genomes]
rs2003930	0.83[ASN][1000 genomes]
rs249450	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs249467	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249473	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2561741	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35972265	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3843476	0.83[ASN][1000 genomes]
rs458084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs459126	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4620002	0.84[ASN][1000 genomes]
rs465871	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs466185	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4701651	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6555326	0.84[ASN][1000 genomes]
rs6874575	0.83[ASN][1000 genomes]
rs6896834	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr5:5015600-5017200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:5015600-5017600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:5015600-5018000	Weak transcription	HSMMtube	muscle
4	chr5:5015600-5018600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:5015800-5017600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:5015800-5017600	Weak transcription	NH-A	brain
7	chr5:5015800-5017800	Weak transcription	Osteobl	bone
8	chr5:5015800-5018000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:5015800-5018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:5015800-5018200	Weak transcription	HSMM	muscle
11	chr5:5015800-5018600	Weak transcription	HMEC	breast
12	chr5:5015800-5021000	Weak transcription	Fetal Brain Male	brain
13	chr5:5016000-5018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:5016200-5018000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:5016400-5017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:5016400-5018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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