Variant report

Variant	rs72754344
Chromosome Location	chr1:212593527-212593528
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212592142..212594928-chr1:212610906..212612518,2	K562	blood:
2	chr1:212587807..212590327-chr1:212593131..212596820,3	K562	blood:
3	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
4	chr1:212591382..212593654-chr1:212604322..212606198,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction
ENSG00000117691	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10157307	1.00[ASN][1000 genomes]
rs10158476	1.00[ASN][1000 genomes]
rs10158543	1.00[ASN][1000 genomes]
rs11119889	1.00[ASN][1000 genomes]
rs11119896	1.00[ASN][1000 genomes]
rs11119905	1.00[ASN][1000 genomes]
rs11119914	1.00[ASN][1000 genomes]
rs11119915	1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs11811628	1.00[ASN][1000 genomes]
rs12060363	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12076639	1.00[ASN][1000 genomes]
rs12081752	1.00[ASN][1000 genomes]
rs12082507	1.00[ASN][1000 genomes]
rs12084885	1.00[ASN][1000 genomes]
rs12087923	1.00[ASN][1000 genomes]
rs12738431	1.00[ASN][1000 genomes]
rs12739468	1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	1.00[ASN][1000 genomes]
rs17019384	1.00[ASN][1000 genomes]
rs17042040	1.00[ASN][1000 genomes]
rs28526731	1.00[ASN][1000 genomes]
rs34004542	1.00[ASN][1000 genomes]
rs351394	1.00[ASN][1000 genomes]
rs351396	1.00[ASN][1000 genomes]
rs351399	1.00[ASN][1000 genomes]
rs351402	1.00[ASN][1000 genomes]
rs35432717	1.00[ASN][1000 genomes]
rs36061296	1.00[ASN][1000 genomes]
rs376547	1.00[ASN][1000 genomes]
rs404987	1.00[ASN][1000 genomes]
rs411278	1.00[ASN][1000 genomes]
rs41314256	1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	1.00[ASN][1000 genomes]
rs57377970	1.00[ASN][1000 genomes]
rs57737965	1.00[ASN][1000 genomes]
rs57847431	1.00[ASN][1000 genomes]
rs58338531	1.00[ASN][1000 genomes]
rs58752775	1.00[ASN][1000 genomes]
rs58876418	1.00[ASN][1000 genomes]
rs59261419	1.00[ASN][1000 genomes]
rs59344104	1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs60521851	1.00[ASN][1000 genomes]
rs61450816	1.00[ASN][1000 genomes]
rs61526449	1.00[ASN][1000 genomes]
rs66522154	1.00[ASN][1000 genomes]
rs66534834	1.00[ASN][1000 genomes]
rs6658490	1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[ASN][1000 genomes]
rs67053561	1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67529467	1.00[ASN][1000 genomes]
rs67770348	1.00[ASN][1000 genomes]
rs67947916	1.00[ASN][1000 genomes]
rs68028120	1.00[ASN][1000 genomes]
rs68047079	1.00[ASN][1000 genomes]
rs72752328	1.00[ASN][1000 genomes]
rs72752361	1.00[ASN][1000 genomes]
rs72752367	1.00[ASN][1000 genomes]
rs72752370	1.00[ASN][1000 genomes]
rs72752373	1.00[ASN][1000 genomes]
rs72752376	1.00[ASN][1000 genomes]
rs72752377	1.00[ASN][1000 genomes]
rs72752384	1.00[ASN][1000 genomes]
rs72752391	1.00[ASN][1000 genomes]
rs72752396	1.00[ASN][1000 genomes]
rs72754304	1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs72756307	1.00[ASN][1000 genomes]
rs72756315	1.00[ASN][1000 genomes]
rs72756328	1.00[ASN][1000 genomes]
rs72756330	1.00[ASN][1000 genomes]
rs72756331	1.00[ASN][1000 genomes]
rs72756332	1.00[ASN][1000 genomes]
rs72756334	1.00[ASN][1000 genomes]
rs72756335	1.00[ASN][1000 genomes]
rs72756337	1.00[ASN][1000 genomes]
rs72756339	1.00[ASN][1000 genomes]
rs72756341	1.00[ASN][1000 genomes]
rs72756342	1.00[ASN][1000 genomes]
rs72756347	1.00[ASN][1000 genomes]
rs72756348	1.00[ASN][1000 genomes]
rs73073999	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs74138382	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	1.00[ASN][1000 genomes]
rs7519459	1.00[ASN][1000 genomes]
rs7523303	1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	1.00[ASN][1000 genomes]
rs7527666	1.00[ASN][1000 genomes]
rs7538428	1.00[ASN][1000 genomes]
rs7544944	1.00[ASN][1000 genomes]
rs7549717	1.00[ASN][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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212588600-212595000	Weak transcription	Right Atrium	heart
2	chr1:212589200-212593600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:212589200-212593800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212589400-212593800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:212590000-212594200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:212591000-212605600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:212591400-212597800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:212592400-212594800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:212593000-212593800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links