Variant report

Variant	rs233267
Chromosome Location	chr21:46038186-46038187
allele	C/G
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:
2	chr21:46033170..46034673-chr21:46036556..46039026,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1211129	0.84[EUR][1000 genomes]
rs1211130	0.84[EUR][1000 genomes]
rs170849	0.87[EUR][1000 genomes]
rs233262	0.87[EUR][1000 genomes]
rs233263	0.87[EUR][1000 genomes]
rs233264	0.87[EUR][1000 genomes]
rs233265	0.85[EUR][1000 genomes]
rs233268	0.95[EUR][1000 genomes]
rs233269	0.95[EUR][1000 genomes]
rs233270	1.00[EUR][1000 genomes]
rs233271	0.95[EUR][1000 genomes]
rs233272	0.92[EUR][1000 genomes]
rs367771	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs392686	0.81[EUR][1000 genomes]
rs395781	0.84[EUR][1000 genomes]
rs409239	0.84[EUR][1000 genomes]
rs411254	0.85[EUR][1000 genomes]
rs415753	0.81[EUR][1000 genomes]
rs423954	0.85[EUR][1000 genomes]
rs425276	0.84[EUR][1000 genomes]
rs425823	0.85[EUR][1000 genomes]
rs451948	0.85[EUR][1000 genomes]
rs456019	0.88[EUR][1000 genomes]
rs487102	0.85[EUR][1000 genomes]
rs8134976	0.93[ASN][1000 genomes]
rs9974127	0.80[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46018400-46048400	Weak transcription	Right Atrium	heart
2	chr21:46032200-46038600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:46035400-46038600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr21:46035400-46038600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr21:46035400-46039800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr21:46035600-46038600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:46035600-46040200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr21:46035800-46038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46036000-46038600	Enhancers	Primary T cells from cord blood	blood
10	chr21:46036000-46040200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:46037200-46038600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:46037600-46038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr21:46037600-46038800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:46037600-46040000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr21:46037800-46039400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:46037800-46040200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr21:46037800-46040200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:46038000-46038200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr21:46038000-46039400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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