Variant report

Variant	rs57040236
Chromosome Location	chr22:32809261-32809262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32806505..32810377-chr22:32871743..32874140,3	K562	blood:
2	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
3	chr22:32808877..32811425-chr22:32872228..32873793,2	K562	blood:
4	chr22:32778843..32780459-chr22:32807463..32809458,2	K562	blood:
5	chr22:32809030..32810169-chr22:32839774..32840840,4	MCF-7	breast:
6	chr22:32807562..32810232-chr22:32869269..32871220,2	K562	blood:
7	chr22:32806622..32809672-chr22:32869373..32872144,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100220	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000241954	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs13110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16990340	1.00[AMR][1000 genomes]
rs16990363	1.00[AMR][1000 genomes]
rs35003092	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55726161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56088001	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56164445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56241612	1.00[AMR][1000 genomes]
rs56257111	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56273567	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56300131	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304230	1.00[AMR][1000 genomes]
rs56393759	1.00[AMR][1000 genomes]
rs56835150	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56870764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56946080	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57313377	0.81[AFR][1000 genomes]
rs57467712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57526188	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57670657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58329990	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58747874	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58917959	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59540071	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59540535	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570290	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59814970	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998441	1.00[AMR][1000 genomes]
rs60284718	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60614590	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61036457	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61060987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61702109	1.00[AMR][1000 genomes]
rs7284713	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7284743	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7285750	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7288743	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289656	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7290295	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881645	1.00[AMR][1000 genomes]
rs73881659	1.00[AMR][1000 genomes]
rs73881660	1.00[AMR][1000 genomes]
rs73881661	1.00[AMR][1000 genomes]
rs73881662	1.00[AMR][1000 genomes]
rs73881663	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881664	1.00[AMR][1000 genomes]
rs73881665	1.00[AMR][1000 genomes]
rs73881666	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881668	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881669	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881670	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881671	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881674	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881675	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881676	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881677	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881680	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881682	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881683	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881684	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881685	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881686	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881690	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881694	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881695	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881696	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881697	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881702	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8139992	1.00[AMR][1000 genomes]
rs8141096	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8141141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32808200-32818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:32808400-32818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32808600-32810000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:32808800-32809400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:32808800-32809400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr22:32808800-32810000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:32808800-32810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:32808800-32810000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr22:32808800-32810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:32808800-32810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:32808800-32810200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:32808800-32810600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:32809000-32810000	Weak transcription	HMEC	breast
14	chr22:32809000-32810000	Weak transcription	NHEK	skin
15	chr22:32809000-32814000	Weak transcription	GM12878-XiMat	blood
16	chr22:32809000-32817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:32809200-32809600	Weak transcription	K562	blood
18	chr22:32809200-32810000	Weak transcription	Liver	Liver

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