Variant report

Variant	rs2838342
Chromosome Location	chr21:45077865-45077866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr21:45077129-45077883	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:
2	chr21:45077838..45080620-chr21:45152184..45154376,2	MCF-7	breast:
3	chr21:45077301..45079668-chr21:45138843..45140832,3	K562	blood:
4	chr21:45077768..45080499-chr21:45194775..45197148,2	MCF-7	breast:
5	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
6	chr21:45066747..45068464-chr21:45075146..45077942,2	MCF-7	breast:
7	chr21:45077212..45079990-chr21:45193841..45196934,5	MCF-7	breast:
8	chr21:44526256..44528655-chr21:45076981..45079726,2	MCF-7	breast:

No data

Variant related genes	Relation type
RRP1B	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000160201	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160214	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1122873	0.85[ASN][1000 genomes]
rs12627667	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1378079	0.81[EUR][1000 genomes]
rs141521	0.81[ASN][1000 genomes]
rs1454648	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454651	0.80[ASN][1000 genomes]
rs1584917	0.85[ASN][1000 genomes]
rs1584918	0.85[ASN][1000 genomes]
rs1598206	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162344	0.80[ASN][1000 genomes]
rs162345	0.80[ASN][1000 genomes]
rs162394	0.80[ASN][1000 genomes]
rs162402	0.81[ASN][1000 genomes]
rs162403	0.81[ASN][1000 genomes]
rs167930	0.80[ASN][1000 genomes]
rs2051407	0.98[ASN][1000 genomes]
rs2246602	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2282526	0.86[EUR][1000 genomes]
rs2298563	0.83[EUR][1000 genomes]
rs2329442	0.85[ASN][1000 genomes]
rs2329443	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838317	0.81[EUR][1000 genomes]
rs2838319	0.81[EUR][1000 genomes]
rs2838328	0.81[EUR][1000 genomes]
rs2838330	0.84[EUR][1000 genomes]
rs2838336	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838337	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838338	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838339	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838340	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2838341	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838343	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28840140	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35110281	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788062	0.82[EUR][1000 genomes]
rs4818843	0.83[EUR][1000 genomes]
rs4818850	0.81[EUR][1000 genomes]
rs4818856	0.85[ASN][1000 genomes]
rs4819284	0.83[EUR][1000 genomes]
rs58451308	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6518309	0.85[ASN][1000 genomes]
rs6518310	0.89[EUR][1000 genomes]
rs7275705	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7276633	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7277539	0.95[ASN][1000 genomes]
rs7279958	0.84[EUR][1000 genomes]
rs7279968	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7282933	0.85[ASN][1000 genomes]
rs8131027	0.84[EUR][1000 genomes]
rs8133523	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306159	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs969060	0.86[EUR][1000 genomes]
rs9974710	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9976441	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9976443	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9980185	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9981790	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9984002	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45060400-45078600	Weak transcription	Pancreas	Pancrea
2	chr21:45065800-45078600	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:45066600-45078200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr21:45066600-45078800	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:45066600-45078800	Weak transcription	Right Atrium	heart
6	chr21:45066600-45079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:45066600-45079000	Weak transcription	Brain Substantia Nigra	brain
8	chr21:45066800-45078800	Weak transcription	Fetal Intestine Small	intestine
9	chr21:45067000-45078600	Weak transcription	HepG2	liver
10	chr21:45074000-45078800	Weak transcription	K562	blood
11	chr21:45074800-45079400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:45075200-45079000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:45075200-45079000	Weak transcription	A549	lung
14	chr21:45075400-45078800	Weak transcription	Osteobl	bone
15	chr21:45075600-45078600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:45075600-45078800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:45075600-45078800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:45075600-45078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:45075600-45078800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:45075600-45078800	Weak transcription	Liver	Liver
21	chr21:45075600-45078800	Weak transcription	Hela-S3	cervix
22	chr21:45075800-45078600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:45075800-45079000	Weak transcription	NH-A	brain
24	chr21:45075800-45079000	Weak transcription	NHDF-Ad	bronchial
25	chr21:45076000-45078800	Weak transcription	HMEC	breast
26	chr21:45076000-45078800	Weak transcription	NHEK	skin
27	chr21:45076600-45079000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:45076800-45078600	Enhancers	Placenta	Placenta
29	chr21:45076800-45079000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr21:45076800-45079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45077000-45078800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr21:45077200-45078200	Enhancers	Adipose Nuclei	Adipose
33	chr21:45077200-45078200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr21:45077200-45078400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr21:45077200-45079000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45077200-45079000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr21:45077400-45078000	Enhancers	Primary T cells from cord blood	blood
38	chr21:45077400-45078000	Enhancers	Fetal Muscle Trunk	muscle
39	chr21:45077400-45078400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr21:45077400-45078400	Weak transcription	Brain Germinal Matrix	brain
41	chr21:45077400-45078800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr21:45077400-45079000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr21:45077400-45079000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr21:45077400-45079000	Enhancers	Fetal Thymus	thymus
45	chr21:45077400-45079200	Enhancers	Spleen	Spleen
46	chr21:45077400-45079400	Enhancers	Primary hematopoietic stem cells	blood
47	chr21:45077600-45078000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:45077600-45078600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr21:45077600-45078800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr21:45077600-45078800	Enhancers	Skeletal Muscle Male	skeletal muscle

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