Variant report

Variant	rs2226687
Chromosome Location	chr21:46035840-46035841
allele	C/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: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1211061	0.87[CHB][hapmap]
rs1211088	0.82[MEX][hapmap]
rs1211103	0.95[CHD][hapmap];0.82[MEX][hapmap]
rs12627414	1.00[CEU][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs170849	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs233262	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs233263	0.98[ASN][1000 genomes]
rs233264	0.94[CHB][hapmap];0.98[ASN][1000 genomes]
rs233265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs233268	0.88[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap]
rs233272	0.82[MEX][hapmap]
rs2838598	0.91[CHD][hapmap];0.82[MEX][hapmap]
rs2838600	1.00[TSI][hapmap]
rs367771	0.94[CHB][hapmap];0.94[ASN][1000 genomes]
rs369111	0.85[CHB][hapmap]
rs370092	0.90[CHD][hapmap]
rs377234	0.90[CHD][hapmap];0.82[MEX][hapmap]
rs379858	0.87[CHB][hapmap]
rs382935	0.95[CHD][hapmap];0.82[MEX][hapmap]
rs392686	0.95[CHD][hapmap];0.82[MEX][hapmap]
rs398680	0.95[CHD][hapmap];0.82[MEX][hapmap]
rs400368	0.87[CHB][hapmap]
rs403981	0.86[CHD][hapmap];0.82[MEX][hapmap]
rs404341	0.86[CHD][hapmap];0.82[MEX][hapmap]
rs411254	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs415753	0.95[CHD][hapmap]
rs416056	0.86[JPT][hapmap]
rs418260	1.00[MEX][hapmap]
rs423954	0.95[ASN][1000 genomes]
rs425823	0.94[CHB][hapmap]
rs430609	0.87[CHB][hapmap]
rs434716	0.87[CHB][hapmap]
rs442600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs445214	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap]
rs451948	0.95[ASN][1000 genomes]
rs452002	0.95[CHD][hapmap];0.82[MEX][hapmap]
rs455413	0.87[CHB][hapmap]
rs455562	0.87[CHB][hapmap]
rs455714	0.87[CHB][hapmap]
rs455777	0.87[CHB][hapmap]
rs455906	0.85[JPT][hapmap]
rs456019	0.88[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap]
rs456444	0.87[CHB][hapmap]
rs457322	0.87[CHB][hapmap]
rs459845	0.87[CHB][hapmap]
rs459915	0.87[CHB][hapmap]
rs460064	0.87[CHB][hapmap]
rs460085	0.87[CHB][hapmap]
rs460122	0.87[CHB][hapmap]
rs462254	0.87[CHB][hapmap]
rs463239	0.87[CHB][hapmap]
rs463267	0.87[CHB][hapmap]
rs463668	0.87[CHB][hapmap]
rs464281	0.87[CHB][hapmap]
rs464504	0.87[CHB][hapmap]
rs464684	0.87[CHB][hapmap]
rs465930	0.87[CHB][hapmap]
rs466094	0.87[CHB][hapmap]
rs487102	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs58029281	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs659638	0.95[CHD][hapmap];0.82[MEX][hapmap]
rs8132500	0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[TSI][hapmap]

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:22 , 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	chr21:46032400-46036000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr21:46032400-46037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46032600-46036000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:46033800-46036800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46034600-46037200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46034800-46036000	Weak transcription	Primary T cells from cord blood	blood
9	chr21:46035400-46038600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr21:46035400-46038600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr21:46035400-46039800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr21:46035600-46038000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr21:46035600-46038600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr21:46035600-46040200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr21:46035800-46036200	Enhancers	HMEC	breast
16	chr21:46035800-46036400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr21:46035800-46036400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:46035800-46036600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:46035800-46036800	Enhancers	Pancreas	Pancrea
20	chr21:46035800-46037000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:46035800-46037600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr21:46035800-46038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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