Variant report

Variant	rs598323
Chromosome Location	chr1:72078698-72078699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10889919	1.00[EUR][1000 genomes]
rs10889920	1.00[EUR][1000 genomes]
rs11209789	1.00[EUR][1000 genomes]
rs11209790	1.00[EUR][1000 genomes]
rs11209791	1.00[EUR][1000 genomes]
rs11800427	1.00[EUR][1000 genomes]
rs11802260	1.00[EUR][1000 genomes]
rs11806447	1.00[EUR][1000 genomes]
rs11807423	1.00[EUR][1000 genomes]
rs11811674	1.00[EUR][1000 genomes]
rs12240058	1.00[EUR][1000 genomes]
rs1228840	1.00[EUR][1000 genomes]
rs12752501	1.00[EUR][1000 genomes]
rs1350647	1.00[EUR][1000 genomes]
rs17091197	1.00[EUR][1000 genomes]
rs17091200	1.00[EUR][1000 genomes]
rs2794309	1.00[EUR][1000 genomes]
rs28370477	1.00[EUR][1000 genomes]
rs28524640	1.00[EUR][1000 genomes]
rs357246	1.00[EUR][1000 genomes]
rs583874	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61350755	1.00[EUR][1000 genomes]
rs692957	1.00[EUR][1000 genomes]
rs693711	1.00[EUR][1000 genomes]
rs72936140	1.00[EUR][1000 genomes]
rs72936152	1.00[EUR][1000 genomes]
rs72936156	1.00[EUR][1000 genomes]
rs72936157	1.00[EUR][1000 genomes]
rs72936165	1.00[EUR][1000 genomes]
rs72936169	1.00[EUR][1000 genomes]
rs72936171	1.00[EUR][1000 genomes]
rs72936176	1.00[EUR][1000 genomes]
rs72938046	1.00[EUR][1000 genomes]
rs72938066	1.00[EUR][1000 genomes]
rs72938067	1.00[EUR][1000 genomes]
rs72938068	1.00[EUR][1000 genomes]
rs72938069	1.00[EUR][1000 genomes]
rs72938087	1.00[EUR][1000 genomes]
rs72938088	1.00[EUR][1000 genomes]
rs72938089	1.00[EUR][1000 genomes]
rs72938091	1.00[EUR][1000 genomes]
rs915218	1.00[EUR][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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv461884	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv546476	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72072200-72085200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:72076000-72081800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:72076400-72081600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:72078400-72079000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:72078600-72079200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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