Variant report

Variant	rs7283619
Chromosome Location	chr21:46527979-46527980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
2	chr21:46525858..46528756-chr21:46540058..46542914,3	K562	blood:
3	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:
4	chr21:46527019..46529206-chr21:46534528..46536813,2	MCF-7	breast:
5	chr21:46527215..46529238-chr21:46529546..46531877,2	MCF-7	breast:
6	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:
7	chr21:46522238..46524278-chr21:46526397..46529123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000267857	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12482868	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12482952	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12482954	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483020	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483115	0.85[ASN][1000 genomes]
rs12483279	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483312	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483758	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1556316	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17004734	0.99[ASN][1000 genomes]
rs17004739	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838774	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838776	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838786	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838789	0.91[ASN][1000 genomes]
rs3178603	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367228	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3746976	0.91[EUR][1000 genomes]
rs3788154	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788155	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788156	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788163	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs386528	0.85[ASN][1000 genomes]
rs406551	0.84[ASN][1000 genomes]
rs421643	0.85[ASN][1000 genomes]
rs423726	0.85[ASN][1000 genomes]
rs428870	0.83[ASN][1000 genomes]
rs431529	0.85[ASN][1000 genomes]
rs431666	0.85[ASN][1000 genomes]
rs431775	0.85[ASN][1000 genomes]
rs439884	0.85[ASN][1000 genomes]
rs442380	0.85[ASN][1000 genomes]
rs447656	0.85[ASN][1000 genomes]
rs7275205	0.97[ASN][1000 genomes]
rs7275931	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7281718	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs731248	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8127577	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8129934	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132454	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132752	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs870145	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870350	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870351	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:88 , 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	chr21:46521200-46528800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:46522800-46529600	Weak transcription	NH-A	brain
6	chr21:46523000-46529200	Weak transcription	Colonic Mucosa	Colon
7	chr21:46523000-46529400	Weak transcription	NHLF	lung
8	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:46523200-46529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46524600-46528800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr21:46524600-46529200	Enhancers	Primary B cells from cord blood	blood
13	chr21:46524800-46528400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:46524800-46528400	Weak transcription	Lung	lung
15	chr21:46524800-46528800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr21:46524800-46528800	Weak transcription	Spleen	Spleen
17	chr21:46524800-46528800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr21:46524800-46529000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr21:46524800-46529000	Weak transcription	Gastric	stomach
20	chr21:46524800-46529000	Weak transcription	Pancreas	Pancrea
21	chr21:46524800-46529400	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:46525000-46528400	Weak transcription	HUVEC	blood vessel
23	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:46525000-46528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:46525000-46529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:46525000-46529000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr21:46525000-46529000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:46525000-46529200	Weak transcription	Liver	Liver
29	chr21:46525000-46529200	Weak transcription	Brain Hippocampus Middle	brain
30	chr21:46525000-46533600	Weak transcription	NHEK	skin
31	chr21:46525200-46528800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:46525400-46528800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:46525800-46529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr21:46525800-46529000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:46525800-46534000	Weak transcription	HMEC	breast
38	chr21:46526000-46528600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:46526000-46529200	Weak transcription	Osteobl	bone
40	chr21:46526000-46529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr21:46526200-46528600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr21:46526200-46529200	Weak transcription	K562	blood
43	chr21:46526400-46528400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:46526400-46528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr21:46526400-46528800	Weak transcription	Adipose Nuclei	Adipose
46	chr21:46526400-46528800	Weak transcription	Brain Anterior Caudate	brain
47	chr21:46526400-46528800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr21:46526400-46528800	Weak transcription	Dnd41	blood
49	chr21:46526400-46529000	Weak transcription	Fetal Lung	lung
50	chr21:46526400-46529000	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links