Variant report

Variant	rs12482868
Chromosome Location	chr21:46526657-46526658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
2	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
3	chr21:46525858..46528756-chr21:46540058..46542914,3	K562	blood:
4	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:
5	chr21:46522238..46524278-chr21:46526397..46529123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12482952	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12482954	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12483020	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12483115	0.84[ASN][1000 genomes]
rs12483279	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12483312	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12483758	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1556316	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17004734	0.97[ASN][1000 genomes]
rs17004739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838774	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838789	0.90[ASN][1000 genomes]
rs3178603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs367228	0.99[ASN][1000 genomes]
rs3746976	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3788154	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3788156	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3788163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788164	0.91[AFR][1000 genomes]
rs386528	0.84[ASN][1000 genomes]
rs406551	0.83[ASN][1000 genomes]
rs421643	0.84[ASN][1000 genomes]
rs423726	0.84[ASN][1000 genomes]
rs428870	0.82[ASN][1000 genomes]
rs431529	0.84[ASN][1000 genomes]
rs431666	0.84[ASN][1000 genomes]
rs431775	0.84[ASN][1000 genomes]
rs439884	0.84[ASN][1000 genomes]
rs442380	0.84[ASN][1000 genomes]
rs447656	0.84[ASN][1000 genomes]
rs7275205	0.96[ASN][1000 genomes]
rs7275931	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7281718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7283619	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs731248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8127577	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8129934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8132454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8132752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8134889	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs870145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:46519400-46526800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:46521200-46527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:46521600-46526800	Genic enhancers	HSMM	muscle
7	chr21:46521800-46526800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr21:46522000-46527000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:46522200-46527200	Enhancers	Colon Smooth Muscle	Colon
10	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:46522800-46529600	Weak transcription	NH-A	brain
12	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
13	chr21:46523000-46529400	Weak transcription	NHLF	lung
14	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:46523200-46529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:46523400-46526800	Enhancers	Fetal Heart	heart
18	chr21:46523400-46527000	Enhancers	Primary T cells from cord blood	blood
19	chr21:46523600-46526800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr21:46523800-46527000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:46524000-46527200	Enhancers	HSMMtube	muscle
22	chr21:46524200-46527000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:46524600-46528800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr21:46524600-46529200	Enhancers	Primary B cells from cord blood	blood
25	chr21:46524800-46527800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:46524800-46528400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:46524800-46528400	Weak transcription	Lung	lung
28	chr21:46524800-46528800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr21:46524800-46528800	Weak transcription	Spleen	Spleen
30	chr21:46524800-46528800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr21:46524800-46529000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr21:46524800-46529000	Weak transcription	Gastric	stomach
33	chr21:46524800-46529000	Weak transcription	Pancreas	Pancrea
34	chr21:46524800-46529400	Enhancers	Primary B cells from peripheral blood	blood
35	chr21:46525000-46526800	Enhancers	Rectal Smooth Muscle	rectum
36	chr21:46525000-46528400	Weak transcription	HUVEC	blood vessel
37	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:46525000-46529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr21:46525000-46529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:46525000-46529000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr21:46525000-46529200	Weak transcription	Liver	Liver
43	chr21:46525000-46529200	Weak transcription	Brain Hippocampus Middle	brain
44	chr21:46525000-46533600	Weak transcription	NHEK	skin
45	chr21:46525200-46528800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:46525400-46528800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:46525800-46526800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr21:46525800-46529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr21:46525800-46529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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