Variant report

Variant	rs233268
Chromosome Location	chr21:46039321-46039322
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46033173..46036596-chr21:46037526..46039917,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1211103	0.87[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs1211121	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs1211122	0.81[EUR][1000 genomes]
rs1211123	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs12627414	0.86[CHD][hapmap]
rs170849	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2226687	0.88[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap]
rs233262	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs233263	0.92[EUR][1000 genomes]
rs233264	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs233265	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs233267	0.95[EUR][1000 genomes]
rs233269	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233270	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs233271	0.89[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233272	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838598	0.82[CHB][hapmap];0.91[CHD][hapmap]
rs2838600	0.81[CHD][hapmap];0.85[MEX][hapmap]
rs367771	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs370092	0.81[CHD][hapmap];0.83[EUR][1000 genomes]
rs371248	0.85[CEU][hapmap]
rs377234	0.87[CEU][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs377263	0.87[CEU][hapmap];0.81[GIH][hapmap]
rs382935	0.87[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs384645	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs392451	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs392686	0.87[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.85[EUR][1000 genomes]
rs398680	0.87[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs403981	0.87[CEU][hapmap];0.88[GIH][hapmap]
rs404341	0.87[CEU][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs408958	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs411254	0.87[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs415753	0.87[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.85[EUR][1000 genomes]
rs416056	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs417538	0.83[EUR][1000 genomes]
rs418260	0.82[MEX][hapmap]
rs423954	0.89[EUR][1000 genomes]
rs425823	0.87[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs437149	0.83[EUR][1000 genomes]
rs442226	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs442600	1.00[CEU][hapmap]
rs445214	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs446817	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs451948	0.89[EUR][1000 genomes]
rs452002	0.87[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs452547	0.83[EUR][1000 genomes]
rs456019	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs465701	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs487102	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs659638	0.87[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[EUR][1000 genomes]
rs8132500	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][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	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 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	chr21:46018400-46048400	Weak transcription	Right Atrium	heart
2	chr21:46035400-46039800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr21:46035600-46040200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr21:46036000-46040200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:46037600-46040000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr21:46037800-46039400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:46037800-46040200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:46037800-46040200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:46038000-46039400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr21:46038400-46039400	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:46038600-46039400	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr21:46038600-46040000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr21:46038800-46039800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:46039000-46040000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr21:46039000-46040200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr21:46039200-46039400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:46039200-46039800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr21:46039200-46040200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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