Variant report

Variant	rs2838786
Chromosome Location	chr21:46532998-46532999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46531155..46534014-chr21:46536221..46540491,4	K562	blood:
2	chr21:46346684..46349434-chr21:46531378..46533130,2	MCF-7	breast:
3	chr21:46530815..46533467-chr21:46549475..46551001,2	K562	blood:
4	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:
5	chr21:46532162..46533690-chr21:46538991..46541427,3	K562	blood:

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10222166	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs12482868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12482952	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12482954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483115	0.85[ASN][1000 genomes]
rs12483279	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483312	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12483758	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12627065	0.90[JPT][hapmap]
rs12627151	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs1556316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1556318	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs1556319	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs17004734	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17004739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17004743	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap]
rs17004748	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2838774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838776	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838789	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2838792	0.93[JPT][hapmap]
rs2838801	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2838802	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2838809	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2838810	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs2838811	0.90[JPT][hapmap]
rs2838812	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2838816	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs3178603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367228	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs372173	0.93[JPT][hapmap]
rs372549	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs3746976	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3788154	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3788155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3788164	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs3788169	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs3788170	0.90[CHB][hapmap]
rs3788171	0.90[CHB][hapmap]
rs3788181	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs386528	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs390504	0.92[JPT][hapmap]
rs406551	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs412626	0.92[JPT][hapmap]
rs412666	0.92[JPT][hapmap]
rs421643	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs423726	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs428870	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs431529	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs431666	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs431775	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs437286	0.92[JPT][hapmap]
rs439884	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs442380	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs447656	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs454052	0.92[JPT][hapmap]
rs6518215	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs6518216	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs6518218	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs7275205	0.97[ASN][1000 genomes]
rs7275931	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7277143	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs7279808	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs7281718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7283317	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs7283619	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8127577	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8129934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8130862	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs8132454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs870145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:46525000-46533600	Weak transcription	NHEK	skin
5	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:46525800-46534000	Weak transcription	HMEC	breast
8	chr21:46526400-46533600	Weak transcription	Fetal Stomach	stomach
9	chr21:46526400-46534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
11	chr21:46526800-46536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:46528800-46536600	Genic enhancers	HSMM	muscle
13	chr21:46528800-46537200	Enhancers	Left Ventricle	heart
14	chr21:46529200-46536600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:46529200-46537400	Weak transcription	Ovary	ovary
16	chr21:46529200-46538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:46529400-46534600	Weak transcription	Pancreas	Pancrea
18	chr21:46529400-46540400	Weak transcription	Gastric	stomach
19	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
20	chr21:46529600-46534000	Weak transcription	Aorta	Aorta
21	chr21:46529600-46537200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:46530200-46533200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:46530200-46534200	Enhancers	Fetal Heart	heart
25	chr21:46530400-46533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:46530400-46534200	Weak transcription	Fetal Brain Male	brain
27	chr21:46530400-46538600	Weak transcription	Fetal Kidney	kidney
28	chr21:46530400-46548400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:46530600-46533000	Enhancers	Right Atrium	heart
31	chr21:46530600-46533000	Enhancers	HUVEC	blood vessel
32	chr21:46530800-46534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr21:46530800-46535400	Enhancers	Spleen	Spleen
34	chr21:46530800-46535600	Enhancers	Right Ventricle	heart
35	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:46531000-46533800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:46531000-46537000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr21:46531200-46534000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr21:46531200-46534200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr21:46531200-46535400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr21:46531200-46536400	Enhancers	Primary B cells from cord blood	blood
42	chr21:46531200-46538800	Enhancers	Primary B cells from peripheral blood	blood
43	chr21:46531200-46542400	Weak transcription	Thymus	Thymus
44	chr21:46531400-46549600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:46531800-46535200	Enhancers	Colon Smooth Muscle	Colon
46	chr21:46531800-46541800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:46531800-46548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:46531800-46548200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr21:46531800-46548600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:46532000-46533000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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