Variant report

Variant	rs6720379
Chromosome Location	chr2:145330364-145330365
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	chr2:145273087..145276339-chr2:145329364..145333301,4	K562	blood:
2	chr2:145264650..145290093-chr2:145328018..145347614,89	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11689575	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1427497	1.00[JPT][hapmap]
rs1427498	1.00[JPT][hapmap]
rs1559963	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4384720	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57477957	1.00[ASN][1000 genomes]
rs57834922	1.00[ASN][1000 genomes]
rs58504774	1.00[ASN][1000 genomes]
rs58811157	1.00[ASN][1000 genomes]
rs59042570	1.00[ASN][1000 genomes]
rs66537831	1.00[ASN][1000 genomes]
rs6718158	1.00[ASN][1000 genomes]
rs67382063	1.00[ASN][1000 genomes]
rs6752912	1.00[ASN][1000 genomes]
rs68017203	1.00[ASN][1000 genomes]
rs72852118	1.00[ASN][1000 genomes]
rs72852120	1.00[ASN][1000 genomes]
rs72852133	1.00[ASN][1000 genomes]
rs72993904	1.00[ASN][1000 genomes]
rs72993910	1.00[ASN][1000 genomes]
rs72997876	1.00[ASN][1000 genomes]
rs72999719	1.00[ASN][1000 genomes]
rs72999723	1.00[ASN][1000 genomes]
rs72999734	1.00[ASN][1000 genomes]
rs72999737	1.00[ASN][1000 genomes]
rs72999751	1.00[ASN][1000 genomes]
rs72999753	1.00[ASN][1000 genomes]
rs73001719	1.00[ASN][1000 genomes]
rs73001730	1.00[ASN][1000 genomes]
rs73001732	1.00[ASN][1000 genomes]
rs73001735	1.00[ASN][1000 genomes]
rs73001749	1.00[ASN][1000 genomes]
rs73001751	1.00[ASN][1000 genomes]
rs73001753	1.00[ASN][1000 genomes]
rs73001755	1.00[ASN][1000 genomes]
rs73001758	1.00[ASN][1000 genomes]
rs73962039	1.00[ASN][1000 genomes]
rs73962041	1.00[ASN][1000 genomes]
rs73963904	1.00[ASN][1000 genomes]
rs7595770	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145327600-145330600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:145327600-145338000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:145328800-145331000	Enhancers	K562	blood
4	chr2:145329800-145330400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:145329800-145334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:145330200-145330400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links