Variant report

Variant	rs57115330
Chromosome Location	chr3:46255262-46255263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46247078..46249229-chr3:46254602..46257153,3	MCF-7	breast:
2	chr3:46254841..46257750-chr3:46263557..46266874,3	K562	blood:
3	chr3:46254841..46257750-chr3:46264550..46266874,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10510748	0.84[EUR][1000 genomes]
rs10510749	0.84[EUR][1000 genomes]
rs11914967	0.88[AFR][1000 genomes]
rs11919943	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11926063	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11929489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13059906	0.87[EUR][1000 genomes]
rs13060713	0.93[ASN][1000 genomes]
rs13060802	0.93[ASN][1000 genomes]
rs13061548	0.92[EUR][1000 genomes]
rs13062450	0.92[EUR][1000 genomes]
rs13062523	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13067058	0.93[ASN][1000 genomes]
rs13069467	0.83[EUR][1000 genomes]
rs13069750	0.88[EUR][1000 genomes]
rs13069845	0.88[EUR][1000 genomes]
rs13070099	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13075270	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13075836	0.83[EUR][1000 genomes]
rs13080979	0.88[EUR][1000 genomes]
rs13082995	0.92[EUR][1000 genomes]
rs13083881	0.83[EUR][1000 genomes]
rs13083914	0.84[EUR][1000 genomes]
rs13084057	0.83[EUR][1000 genomes]
rs13084175	0.83[EUR][1000 genomes]
rs13088766	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13089907	0.87[EUR][1000 genomes]
rs13090848	0.84[EUR][1000 genomes]
rs13092160	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13095940	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13095946	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13096307	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13096325	0.83[EUR][1000 genomes]
rs13096371	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13096873	0.81[EUR][1000 genomes]
rs13097340	0.83[EUR][1000 genomes]
rs13097666	0.88[EUR][1000 genomes]
rs13098911	0.88[EUR][1000 genomes]
rs1542755	0.93[ASN][1000 genomes]
rs17216717	0.83[EUR][1000 genomes]
rs17282797	0.88[EUR][1000 genomes]
rs17282922	0.88[EUR][1000 genomes]
rs2131092	0.93[ASN][1000 genomes]
rs2373156	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3091314	0.83[EUR][1000 genomes]
rs3136672	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3136673	0.92[EUR][1000 genomes]
rs3176824	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3176825	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3176826	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3181076	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3181078	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3181080	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33998492	0.93[ASN][1000 genomes]
rs34005848	0.93[ASN][1000 genomes]
rs34013035	0.87[EUR][1000 genomes]
rs34047458	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34059564	0.92[EUR][1000 genomes]
rs34101673	0.86[EUR][1000 genomes]
rs34134191	0.86[EUR][1000 genomes]
rs34194160	0.86[ASN][1000 genomes]
rs34198655	0.87[EUR][1000 genomes]
rs34280313	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34289272	0.93[ASN][1000 genomes]
rs34340501	0.88[EUR][1000 genomes]
rs34376347	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34378541	0.88[EUR][1000 genomes]
rs34401473	0.83[EUR][1000 genomes]
rs34409248	0.86[EUR][1000 genomes]
rs34414382	0.93[ASN][1000 genomes]
rs34423195	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34498313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34523728	0.86[EUR][1000 genomes]
rs34531115	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34567015	0.83[EUR][1000 genomes]
rs34570200	0.86[EUR][1000 genomes]
rs34611049	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34625088	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34677490	0.93[ASN][1000 genomes]
rs34692251	0.93[ASN][1000 genomes]
rs34693386	0.86[EUR][1000 genomes]
rs34745455	0.93[ASN][1000 genomes]
rs34759782	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34865316	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34870159	0.83[EUR][1000 genomes]
rs34897745	0.86[EUR][1000 genomes]
rs34919616	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34920132	0.91[EUR][1000 genomes]
rs34985947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34996127	0.86[EUR][1000 genomes]
rs35111399	0.88[EUR][1000 genomes]
rs35178150	0.83[EUR][1000 genomes]
rs35195804	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35288652	0.86[EUR][1000 genomes]
rs35335084	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35354367	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35429781	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35431271	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35434266	0.86[EUR][1000 genomes]
rs35481399	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35560301	0.86[EUR][1000 genomes]
rs35566550	0.86[EUR][1000 genomes]
rs35587265	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35613615	0.93[ASN][1000 genomes]
rs35614049	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35617677	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35678191	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35685805	0.83[EUR][1000 genomes]
rs35754688	0.83[EUR][1000 genomes]
rs35775079	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35853141	0.86[EUR][1000 genomes]
rs35919278	0.86[EUR][1000 genomes]
rs35942803	0.86[EUR][1000 genomes]
rs35960950	0.84[EUR][1000 genomes]
rs35984988	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36000011	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36010446	0.88[EUR][1000 genomes]
rs36189995	0.83[EUR][1000 genomes]
rs3774630	0.86[EUR][1000 genomes]
rs41432345	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41537946	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56698532	0.94[AFR][1000 genomes]
rs57560436	0.88[AFR][1000 genomes]
rs59340338	0.81[AFR][1000 genomes]
rs6765904	0.87[EUR][1000 genomes]
rs6775046	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71327035	0.84[EUR][1000 genomes]
rs71327036	0.84[EUR][1000 genomes]
rs71327038	0.88[EUR][1000 genomes]
rs71327039	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71327040	0.93[ASN][1000 genomes]
rs71327041	0.93[ASN][1000 genomes]
rs71327043	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71327044	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71615441	0.93[ASN][1000 genomes]
rs73833005	0.96[AFR][1000 genomes]
rs73833018	0.96[AFR][1000 genomes]
rs73833020	0.95[AFR][1000 genomes]
rs7618935	0.86[AFR][1000 genomes]
rs7620586	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7624155	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7628489	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631551	0.84[EUR][1000 genomes]
rs7631658	0.82[AFR][1000 genomes]
rs7651539	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7653045	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46248200-46256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:46248400-46256400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:46249800-46255800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:46252400-46256400	Weak transcription	Lung	lung
5	chr3:46253000-46256800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:46253600-46255600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr3:46253800-46256600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:46253800-46256800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:46254000-46256400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr3:46254000-46256600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:46254000-46256600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:46254200-46255600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:46254200-46255800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:46254200-46255800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:46254400-46256400	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:46254400-46256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:46254600-46255400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:46254600-46255400	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:46254600-46255400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr3:46254600-46255400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr3:46254600-46255400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:46254600-46255600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr3:46254600-46255600	Flanking Active TSS	Dnd41	blood
24	chr3:46254600-46255800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:46254800-46255400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr3:46254800-46255400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:46254800-46255600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:46255200-46255400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:46255200-46255400	Enhancers	Colonic Mucosa	Colon
30	chr3:46255200-46255400	Enhancers	Spleen	Spleen
31	chr3:46255200-46255600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr3:46255200-46256200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:46255200-46256400	Enhancers	Thymus	Thymus
34	chr3:46255200-46256600	Enhancers	GM12878-XiMat	blood
35	chr3:46255200-46257200	Enhancers	Fetal Thymus	thymus

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