Variant report

Variant	rs4041340
Chromosome Location	chr1:153060573-153060574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10494288	1.00[EUR][1000 genomes]
rs10888521	1.00[EUR][1000 genomes]
rs11205147	1.00[EUR][1000 genomes]
rs11205183	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12024694	1.00[EUR][1000 genomes]
rs12029192	1.00[EUR][1000 genomes]
rs12032522	1.00[EUR][1000 genomes]
rs12037754	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12046394	0.82[ASN][1000 genomes]
rs12047099	1.00[EUR][1000 genomes]
rs12047187	0.82[ASN][1000 genomes]
rs12047225	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12047630	1.00[EUR][1000 genomes]
rs1415973	1.00[EUR][1000 genomes]
rs167452	0.88[ASN][1000 genomes]
rs16834838	1.00[EUR][1000 genomes]
rs16834871	1.00[EUR][1000 genomes]
rs1846857	1.00[EUR][1000 genomes]
rs1995307	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2339501	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28647391	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs310096	0.88[ASN][1000 genomes]
rs310097	0.88[ASN][1000 genomes]
rs310098	0.88[ASN][1000 genomes]
rs310099	0.88[ASN][1000 genomes]
rs310101	0.88[ASN][1000 genomes]
rs310104	0.88[ASN][1000 genomes]
rs310112	0.95[ASN][1000 genomes]
rs310113	0.97[ASN][1000 genomes]
rs310116	0.97[ASN][1000 genomes]
rs310117	0.97[ASN][1000 genomes]
rs310125	0.81[ASN][1000 genomes]
rs36090881	1.00[EUR][1000 genomes]
rs367220	0.90[ASN][1000 genomes]
rs373451	0.90[ASN][1000 genomes]
rs374170	0.90[ASN][1000 genomes]
rs377182	0.90[ASN][1000 genomes]
rs3856020	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs399274	0.89[ASN][1000 genomes]
rs4041337	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs442209	0.88[ASN][1000 genomes]
rs4845498	1.00[EUR][1000 genomes]
rs576793	0.88[ASN][1000 genomes]
rs593671	0.88[ASN][1000 genomes]
rs60500053	1.00[EUR][1000 genomes]
rs634639	0.82[ASN][1000 genomes]
rs649269	0.82[ASN][1000 genomes]
rs72480203	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525198	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv464017	chr1:153033406-153099345	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547920	chr1:153033406-153099345	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv946395	chr1:153042430-153069958	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3334814	chr1:153044548-153067651	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3425721	chr1:153057079-153076073	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153055200-153068400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:153059800-153060600	Enhancers	K562	blood

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