Variant report

Variant	rs34251367
Chromosome Location	chr6:45040880-45040881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1023089	0.81[ASN][1000 genomes]
rs1023091	0.86[EUR][1000 genomes]
rs1028944	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1041332	0.80[ASN][1000 genomes]
rs10948198	0.81[ASN][1000 genomes]
rs11968042	0.87[ASN][1000 genomes]
rs12190261	0.82[ASN][1000 genomes]
rs12205071	0.82[ASN][1000 genomes]
rs12208023	0.82[ASN][1000 genomes]
rs12208483	0.87[ASN][1000 genomes]
rs12526649	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526755	0.89[EUR][1000 genomes]
rs12526807	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12527668	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12527743	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12527908	0.86[EUR][1000 genomes]
rs12528232	0.86[EUR][1000 genomes]
rs12528762	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12529522	0.86[EUR][1000 genomes]
rs12529990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12660412	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12661902	0.86[EUR][1000 genomes]
rs12662272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12663530	0.82[EUR][1000 genomes]
rs12663798	0.89[EUR][1000 genomes]
rs1284955	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1284962	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1284964	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1284966	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1284967	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1284979	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1284988	0.82[ASN][1000 genomes]
rs1284989	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1284993	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1284995	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1284999	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285000	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1285003	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1285005	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285006	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285007	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1285008	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285009	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285010	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285011	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285020	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1285021	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285025	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1285027	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1285028	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285029	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285030	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1285031	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1285033	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13198471	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13201942	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13205113	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13207575	0.82[ASN][1000 genomes]
rs13209827	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13211006	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13216967	0.83[EUR][1000 genomes]
rs1324530	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1324535	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1329715	0.90[EUR][1000 genomes]
rs1360195	0.89[EUR][1000 genomes]
rs1411148	0.86[ASN][1000 genomes]
rs16873257	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1748233	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1748236	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1748238	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1748240	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1797148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1797149	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1797156	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1853652	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1937046	0.87[ASN][1000 genomes]
rs1937047	0.87[ASN][1000 genomes]
rs2057552	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2057553	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2186062	0.80[ASN][1000 genomes]
rs2396380	0.86[ASN][1000 genomes]
rs2396381	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2396426	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2763134	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2815263	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34152708	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34167737	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34286542	0.89[EUR][1000 genomes]
rs35103634	0.90[EUR][1000 genomes]
rs35134594	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35687006	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35704584	0.87[EUR][1000 genomes]
rs35811020	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35817842	0.87[ASN][1000 genomes]
rs35908738	0.89[EUR][1000 genomes]
rs36105034	0.82[EUR][1000 genomes]
rs3799987	0.89[EUR][1000 genomes]
rs3920903	0.86[ASN][1000 genomes]
rs4339452	0.81[ASN][1000 genomes]
rs4412189	0.80[ASN][1000 genomes]
rs4475320	0.89[EUR][1000 genomes]
rs4512220	0.87[EUR][1000 genomes]
rs4521586	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4521587	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4711809	0.86[EUR][1000 genomes]
rs4714829	0.89[EUR][1000 genomes]
rs4714834	0.86[EUR][1000 genomes]
rs4714836	0.82[ASN][1000 genomes]
rs4714838	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714842	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4714846	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55959525	0.81[ASN][1000 genomes]
rs56138724	0.86[ASN][1000 genomes]
rs56175185	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59945128	0.90[EUR][1000 genomes]
rs6458418	0.82[ASN][1000 genomes]
rs6458432	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6458433	0.86[ASN][1000 genomes]
rs6458434	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6458435	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs67911131	0.85[EUR][1000 genomes]
rs6899845	0.86[ASN][1000 genomes]
rs6901161	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6904584	0.84[EUR][1000 genomes]
rs6917352	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6917594	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6919161	0.86[EUR][1000 genomes]
rs6923436	0.87[ASN][1000 genomes]
rs6933553	0.80[ASN][1000 genomes]
rs6936475	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6938592	0.86[ASN][1000 genomes]
rs73449282	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73735337	0.84[ASN][1000 genomes]
rs73735338	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7740542	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7745506	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758031	0.82[ASN][1000 genomes]
rs7763450	0.85[ASN][1000 genomes]
rs7763973	0.87[ASN][1000 genomes]
rs9296452	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9349309	0.81[ASN][1000 genomes]
rs9357469	0.84[ASN][1000 genomes]
rs9367214	0.81[ASN][1000 genomes]
rs9369530	0.80[ASN][1000 genomes]
rs9369533	0.86[ASN][1000 genomes]
rs9369549	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9381361	0.80[ASN][1000 genomes]
rs9395063	0.86[ASN][1000 genomes]
rs9395081	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9463069	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9463070	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9472442	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9472453	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs969211	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2762589	chr6:44982992-45044580	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1026728	chr6:45001948-45126730	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv538213	chr6:45001948-45126730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv885865	chr6:45012223-45102025	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45037000-45042400	Weak transcription	Fetal Intestine Large	intestine
2	chr6:45037800-45043000	Weak transcription	Fetal Heart	heart
3	chr6:45038800-45041000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:45039200-45042600	Enhancers	Dnd41	blood
5	chr6:45039200-45043000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:45039600-45041000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:45039600-45042400	Weak transcription	Primary T cells from cord blood	blood
8	chr6:45039800-45041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:45039800-45044200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:45039800-45044600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:45040000-45041400	Weak transcription	Fetal Intestine Small	intestine
12	chr6:45040200-45041000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:45040400-45041000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:45040400-45041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:45040400-45041200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:45040600-45041000	Flanking Active TSS	HUVEC	blood vessel
17	chr6:45040600-45041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:45040600-45041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:45040600-45041600	Enhancers	HSMM	muscle
20	chr6:45040600-45042400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:45040600-45044600	Enhancers	NH-A	brain
22	chr6:45040800-45041200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:45040800-45042200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:45040800-45042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:45040800-45044000	Enhancers	Osteobl	bone

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