Variant report

Variant	rs233263
Chromosome Location	chr21:46036637-46036638
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	chr21:46033170..46034673-chr21:46036556..46039026,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs170849	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2226687	0.98[ASN][1000 genomes]
rs233262	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233264	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233265	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233267	0.87[EUR][1000 genomes]
rs233268	0.92[EUR][1000 genomes]
rs233269	0.92[EUR][1000 genomes]
rs233270	0.87[EUR][1000 genomes]
rs233271	0.92[EUR][1000 genomes]
rs233272	0.89[EUR][1000 genomes]
rs367771	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs408183	0.82[EUR][1000 genomes]
rs411254	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423954	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs425823	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs442600	0.92[ASN][1000 genomes]
rs451948	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs456019	0.85[EUR][1000 genomes]
rs487102	0.97[EUR][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:31 , 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	chr21:46032400-46037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46033800-46036800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:46034600-46037200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46035400-46038600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr21:46035400-46038600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr21:46035400-46039800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr21:46035600-46038000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr21:46035600-46038600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46035600-46040200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr21:46035800-46036800	Enhancers	Pancreas	Pancrea
13	chr21:46035800-46037000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:46035800-46037600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:46035800-46038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:46036000-46037200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr21:46036000-46037200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:46036000-46037600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr21:46036000-46037600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr21:46036000-46038600	Enhancers	Primary T cells from cord blood	blood
21	chr21:46036000-46040200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:46036200-46037200	Bivalent Enhancer	HMEC	breast
23	chr21:46036400-46037000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:46036400-46037200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr21:46036400-46037800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:46036400-46037800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:46036600-46036800	Bivalent Enhancer	Placenta	Placenta
28	chr21:46036600-46036800	Flanking Bivalent TSS/Enh	NHEK	skin
29	chr21:46036600-46037200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:46036600-46037400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:46036600-46037600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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