Variant report

Variant	rs72798982
Chromosome Location	chr2:56340558-56340559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56337806..56341873-chr2:56342839..56347033,7	K562	blood:
2	chr2:56337806..56342628-chr2:56343291..56347033,6	K562	blood:
3	chr2:56338244..56341178-chr2:56349675..56352414,2	MCF-7	breast:
4	chr2:56315975..56318654-chr2:56340489..56342924,2	K562	blood:

Variant related genes	Relation type
ENSG00000229805	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10174651	1.00[EUR][1000 genomes]
rs10177559	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55721408	0.89[EUR][1000 genomes]
rs55736515	0.89[EUR][1000 genomes]
rs55880086	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55909962	0.89[EUR][1000 genomes]
rs56242550	0.89[EUR][1000 genomes]
rs72798921	0.83[EUR][1000 genomes]
rs72798922	0.86[EUR][1000 genomes]
rs72798923	0.89[EUR][1000 genomes]
rs72798924	0.89[EUR][1000 genomes]
rs72798927	0.89[EUR][1000 genomes]
rs72798941	0.80[EUR][1000 genomes]
rs72798942	0.89[EUR][1000 genomes]
rs72798943	0.89[EUR][1000 genomes]
rs72798945	0.89[EUR][1000 genomes]
rs72798959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798960	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798966	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798967	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798989	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798998	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72799000	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801113	0.93[EUR][1000 genomes]
rs72801116	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801123	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801125	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801126	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801136	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801146	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72801148	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34703	chr2:56272949-56382181	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874163	chr2:56280428-56357582	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv874164	chr2:56280428-56388746	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874165	chr2:56280428-56393918	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv9824	chr2:56282176-56392083	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874166	chr2:56282762-56370879	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv874167	chr2:56284418-56388746	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv457952	chr2:56292883-56388746	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv582031	chr2:56292883-56388746	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3459579	chr2:56338265-56341250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3459578	chr2:56338298-56341241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3459580	chr2:56338448-56341124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56336400-56344000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:56336600-56340600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:56339800-56347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:56340200-56340600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:56340400-56340800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:56340400-56341200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:56340400-56341200	Enhancers	Fetal Kidney	kidney
8	chr2:56340400-56341200	Enhancers	Fetal Stomach	stomach

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