Variant report

Variant	rs2838785
Chromosome Location	chr21:46529291-46529292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46528737..46532394-chr21:46532848..46536874,5	K562	blood:
2	chr21:46515956..46522233-chr21:46528087..46531013,7	K562	blood:
3	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
4	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:
5	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
6	chr21:46502343..46504540-chr21:46529179..46531267,2	K562	blood:
7	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11908769	0.89[AFR][1000 genomes]
rs11911694	0.89[AFR][1000 genomes]
rs17004737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004740	0.89[AFR][1000 genomes]
rs17004746	0.89[AFR][1000 genomes]
rs2032253	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][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]
rs2838772	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2838775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][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]
rs2838777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838779	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]
rs2838780	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]
rs2838784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877003	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3171490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373249	1.00[ASN][1000 genomes]
rs375621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs387536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs406923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs407157	1.00[ASN][1000 genomes]
rs412431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs420499	1.00[CEU][hapmap]
rs422205	0.93[ASN][1000 genomes]
rs423892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs425176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs437833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs444789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs451550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73230653	1.00[AMR][1000 genomes]
rs73230658	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73230662	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73230667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230679	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8133767	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3353033	chr21:46529031-46529303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 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	chr21:46522800-46529600	Weak transcription	NH-A	brain
4	chr21:46523000-46529400	Weak transcription	NHLF	lung
5	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:46524800-46529400	Enhancers	Primary B cells from peripheral blood	blood
8	chr21:46525000-46533600	Weak transcription	NHEK	skin
9	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:46525800-46534000	Weak transcription	HMEC	breast
12	chr21:46526000-46529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:46526400-46529400	Weak transcription	Brain Angular Gyrus	brain
14	chr21:46526400-46531600	Weak transcription	Hela-S3	cervix
15	chr21:46526400-46533600	Weak transcription	Fetal Stomach	stomach
16	chr21:46526400-46534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
18	chr21:46526600-46529600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:46526800-46529600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:46526800-46531600	Weak transcription	Psoas Muscle	Psoas
21	chr21:46526800-46536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:46527000-46531800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:46527800-46529400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:46528200-46529400	Enhancers	Fetal Heart	heart
25	chr21:46528400-46529400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr21:46528400-46529400	Enhancers	HUVEC	blood vessel
27	chr21:46528400-46529600	Enhancers	Lung	lung
28	chr21:46528600-46530400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:46528600-46531000	Enhancers	HSMMtube	muscle
30	chr21:46528800-46529400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr21:46528800-46529400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr21:46528800-46529400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr21:46528800-46529400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:46528800-46529400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr21:46528800-46529600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr21:46528800-46529600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:46528800-46529600	Enhancers	Brain Anterior Caudate	brain
38	chr21:46528800-46529600	Enhancers	Right Atrium	heart
39	chr21:46528800-46529600	Enhancers	Spleen	Spleen
40	chr21:46528800-46529800	Enhancers	Fetal Brain Male	brain
41	chr21:46528800-46529800	Flanking Active TSS	GM12878-XiMat	blood
42	chr21:46528800-46530000	Enhancers	Colon Smooth Muscle	Colon
43	chr21:46528800-46530000	Enhancers	Right Ventricle	heart
44	chr21:46528800-46530200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:46528800-46530400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:46528800-46531200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr21:46528800-46531200	Enhancers	Fetal Muscle Trunk	muscle
48	chr21:46528800-46531200	Enhancers	Fetal Muscle Leg	muscle
49	chr21:46528800-46532600	Enhancers	Dnd41	blood
50	chr21:46528800-46536600	Genic enhancers	HSMM	muscle

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