Variant report

Variant	rs6518215
Chromosome Location	chr21:46609934-46609935
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10222166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs11911460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12482954	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs12483020	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12483279	0.92[JPT][hapmap]
rs12483288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627065	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12627151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13433524	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1556316	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs1556318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004734	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs17004739	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs17004743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17004748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838774	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2838776	0.82[CHB][hapmap]
rs2838786	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2838789	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs2838792	1.00[JPT][hapmap]
rs2838801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838814	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3178603	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs367228	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs372173	0.86[JPT][hapmap]
rs372549	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3746976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3788155	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs3788156	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs3788163	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs3788164	0.92[JPT][hapmap]
rs3788169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3788170	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs3788171	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs3788181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs386528	0.86[JPT][hapmap]
rs390504	0.85[JPT][hapmap]
rs398023	0.94[ASN][1000 genomes]
rs406551	0.85[JPT][hapmap]
rs412626	0.85[JPT][hapmap]
rs412666	0.85[JPT][hapmap]
rs421643	0.86[JPT][hapmap]
rs423726	0.86[JPT][hapmap]
rs428870	0.85[JPT][hapmap]
rs431529	0.85[JPT][hapmap]
rs431666	0.86[JPT][hapmap]
rs431775	0.86[JPT][hapmap]
rs437286	0.85[JPT][hapmap]
rs439884	0.85[JPT][hapmap]
rs442380	0.85[JPT][hapmap]
rs447656	0.85[JPT][hapmap]
rs454052	0.85[JPT][hapmap]
rs6518216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518217	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66664884	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66837495	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7277143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7279808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7283317	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731248	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs8129624	0.94[ASN][1000 genomes]
rs8129934	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs8130097	0.94[ASN][1000 genomes]
rs8130862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8132646	1.00[ASN][1000 genomes]
rs8132752	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs8134382	1.00[ASN][1000 genomes]
rs8134889	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs870145	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs870351	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs914211	0.85[CEU][hapmap]
rs9653788	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978240	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978543	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
12	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46604600-46615000	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:46604800-46610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:46604800-46610600	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:46604800-46611400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46604800-46618200	Strong transcription	Hela-S3	cervix
7	chr21:46605200-46610800	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr21:46605200-46620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46605400-46610200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr21:46605600-46610600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr21:46605800-46610000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:46605800-46610000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:46605800-46610200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:46605800-46610200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr21:46605800-46610800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:46605800-46610800	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr21:46605800-46611000	ZNF genes & repeats	Fetal Lung	lung
18	chr21:46605800-46612800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:46605800-46613000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:46606000-46610600	Weak transcription	Aorta	Aorta
21	chr21:46606000-46610600	Weak transcription	Gastric	stomach
22	chr21:46606000-46611000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr21:46606000-46611200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr21:46606000-46612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:46606000-46624400	Weak transcription	Esophagus	oesophagus
26	chr21:46606000-46630600	Weak transcription	Pancreas	Pancrea
27	chr21:46606200-46610200	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr21:46606200-46610800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr21:46606200-46611000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr21:46606200-46611000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr21:46606400-46610600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
32	chr21:46606400-46610600	Weak transcription	Left Ventricle	heart
33	chr21:46606400-46619200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:46606600-46610400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:46606600-46610400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr21:46606600-46610600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr21:46606600-46610600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:46606600-46611000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr21:46606600-46622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:46606800-46610600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr21:46606800-46624400	Weak transcription	Ovary	ovary
42	chr21:46606800-46624400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr21:46606800-46628400	Weak transcription	NH-A	brain
44	chr21:46606800-46640800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr21:46607000-46622400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:46607400-46611400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr21:46607600-46611000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:46607600-46628600	Weak transcription	Osteobl	bone
49	chr21:46607800-46619200	Weak transcription	HMEC	breast
50	chr21:46608000-46610400	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links