Variant report

Variant	rs45590835
Chromosome Location	chr21:45795148-45795149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45784094..45787040-chr21:45792417..45795932,4	K562	blood:
2	chr21:45794641..45796979-chr21:45799400..45801553,2	MCF-7	breast:
3	chr21:45789103..45790840-chr21:45794560..45797280,2	K562	blood:
4	chr21:45790478..45792111-chr21:45794072..45795936,2	MCF-7	breast:
5	chr21:45790566..45792550-chr21:45794987..45797121,2	MCF-7	breast:
6	chr21:45793735..45795279-chr21:45798223..45800138,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11088949	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11700418	0.90[EUR][1000 genomes]
rs11702292	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11702323	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11908957	0.90[EUR][1000 genomes]
rs11908983	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11911248	0.99[EUR][1000 genomes]
rs11911332	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626312	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12627182	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13313851	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1556314	0.98[EUR][1000 genomes]
rs2226686	0.99[EUR][1000 genomes]
rs2276252	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838553	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838554	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838555	0.91[EUR][1000 genomes]
rs2838556	0.97[EUR][1000 genomes]
rs2838557	0.95[EUR][1000 genomes]
rs28532655	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28636732	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28688635	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28709583	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28752243	0.99[EUR][1000 genomes]
rs4169	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45457102	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45621438	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4818713	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818714	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818715	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818716	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818910	0.90[EUR][1000 genomes]
rs4818911	0.90[EUR][1000 genomes]
rs4818912	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818913	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818915	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4818917	0.96[EUR][1000 genomes]
rs55712486	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56195574	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62218764	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62218765	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62218767	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62218769	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7277517	0.97[EUR][1000 genomes]
rs7278527	0.98[EUR][1000 genomes]
rs73231283	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs762426	0.91[EUR][1000 genomes]
rs9974187	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9974189	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9974813	0.90[EUR][1000 genomes]
rs9975269	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9977290	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9980508	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9982831	0.91[EUR][1000 genomes]
rs9984977	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
5	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
9	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
10	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
11	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	nsv913920	chr21:45699404-45824792	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
14	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv913928	chr21:45700641-45811343	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
17	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
18	nsv913933	chr21:45703660-45811343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv913936	chr21:45709153-45811343	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
21	nsv913939	chr21:45712588-45818609	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
22	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
23	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
25	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
26	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
27	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
29	nsv1059107	chr21:45749304-45813036	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
30	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
31	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
32	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
33	nsv587781	chr21:45764397-45867471	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
34	esv1837121	chr21:45768598-45829570	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45771200-45795800	Weak transcription	Brain Angular Gyrus	brain
2	chr21:45784400-45795600	Weak transcription	Right Atrium	heart
3	chr21:45790400-45795200	Weak transcription	Brain Anterior Caudate	brain
4	chr21:45790400-45795600	Weak transcription	Esophagus	oesophagus
5	chr21:45790600-45796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45791000-45799000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:45793000-45795600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr21:45793200-45796200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:45793400-45796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:45793400-45796200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr21:45793600-45795800	Enhancers	Primary T cells from cord blood	blood
12	chr21:45793600-45797000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr21:45793600-45797200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr21:45793800-45796400	Enhancers	Primary B cells from cord blood	blood
15	chr21:45794200-45796000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45794200-45796000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr21:45794200-45796000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:45794200-45796200	Enhancers	Duodenum Mucosa	Duodenum
19	chr21:45794400-45795600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr21:45794400-45795600	Enhancers	Colonic Mucosa	Colon
21	chr21:45794400-45795800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:45794400-45796000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:45794400-45796000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr21:45794400-45796200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:45794400-45797000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr21:45794400-45797600	Enhancers	Primary B cells from peripheral blood	blood
27	chr21:45794600-45795800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr21:45794600-45795800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr21:45794600-45795800	Enhancers	Gastric	stomach
30	chr21:45794600-45795800	Enhancers	Spleen	Spleen
31	chr21:45794600-45795800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr21:45794600-45796200	Enhancers	Primary hematopoietic stem cells	blood
33	chr21:45794800-45796000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr21:45795000-45795200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:45795000-45795400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:45795000-45795400	Enhancers	Thymus	Thymus
37	chr21:45795000-45795400	Enhancers	GM12878-XiMat	blood
38	chr21:45795000-45795600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45795000-45795600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr21:45795000-45795600	Enhancers	Fetal Thymus	thymus

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