Variant report

Variant	rs72632830
Chromosome Location	chr1:227728897-227728898
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227727749..227729472-chr1:227739111..227740675,2	K562	blood:
2	chr1:227721537..227724263-chr1:227727527..227730135,2	MCF-7	breast:
3	chr1:227725139..227726773-chr1:227727190..227729662,2	K562	blood:
4	chr1:227727960..227729815-chr1:228131832..228133962,2	MCF-7	breast:
5	chr1:227728158..227729940-chr1:227914897..227917653,2	MCF-7	breast:
6	chr1:227728577..227730296-chr1:227730401..227732480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10047205	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10916178	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10916192	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12059899	0.92[EUR][1000 genomes]
rs12069550	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12070539	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12080590	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12082414	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12092295	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12095502	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12096675	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1495846	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1495849	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16847966	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16847991	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16847992	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16848029	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1923821	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2012432	0.92[EUR][1000 genomes]
rs2132366	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2256599	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453682	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2644143	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2644144	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2644146	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2644153	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2644161	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814059	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814060	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814061	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2814084	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814085	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2819496	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2819498	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2819507	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2819511	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3748806	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4376731	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4589104	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58020705	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59034043	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59149651	0.90[EUR][1000 genomes]
rs59753688	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61343450	0.82[EUR][1000 genomes]
rs66471275	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66491073	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6659745	0.88[EUR][1000 genomes]
rs66736638	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6688145	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6693348	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66938123	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67216605	0.82[EUR][1000 genomes]
rs67511833	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67676707	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68046179	0.87[EUR][1000 genomes]
rs68186506	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72632831	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72632832	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72748074	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7413796	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs753541	0.92[EUR][1000 genomes]
rs7539151	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs903692	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs903693	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs903694	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs903695	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs965942	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv947520	chr1:227724042-227750192	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv947560	chr1:227726600-227750192	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227720800-227729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:227720800-227729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:227725200-227729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:227726200-227729600	Weak transcription	Aorta	Aorta
5	chr1:227726400-227729200	Weak transcription	Liver	Liver
6	chr1:227728000-227729200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:227728400-227729200	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:227728400-227729600	Enhancers	Spleen	Spleen
9	chr1:227728600-227729200	Weak transcription	Gastric	stomach
10	chr1:227728600-227729400	Enhancers	Pancreas	Pancrea
11	chr1:227728800-227729000	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:227728800-227730400	Active TSS	Brain Anterior Caudate	brain

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