Variant report

Variant	rs9983752
Chromosome Location	chr21:44992575-44992576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44990660..44993041-chr21:45040691..45042481,2	K562	blood:
2	chr21:44983303..44985349-chr21:44990457..44992828,2	MCF-7	breast:
3	chr21:44989424..44992268-chr21:44992399..44995475,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234289	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1041455	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1073522	1.00[YRI][hapmap]
rs1122873	1.00[YRI][hapmap]
rs11911865	1.00[EUR][1000 genomes]
rs12165286	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1378080	0.87[YRI][hapmap]
rs1584918	0.83[YRI][hapmap]
rs162366	0.94[LWK][hapmap];0.95[YRI][hapmap]
rs162371	0.83[YRI][hapmap]
rs162372	0.95[YRI][hapmap]
rs162375	0.91[LWK][hapmap];0.95[YRI][hapmap]
rs162376	0.91[LWK][hapmap];0.90[YRI][hapmap]
rs162377	0.91[LWK][hapmap];0.95[YRI][hapmap]
rs162380	0.95[YRI][hapmap]
rs162390	0.95[YRI][hapmap]
rs162399	0.95[YRI][hapmap]
rs162400	0.94[LWK][hapmap];0.95[YRI][hapmap]
rs229357	1.00[YRI][hapmap]
rs230642	0.91[LWK][hapmap];0.90[YRI][hapmap]
rs2329442	0.94[LWK][hapmap];0.83[YRI][hapmap]
rs2329600	1.00[EUR][1000 genomes]
rs2838316	0.97[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2838320	0.88[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2838322	0.81[AFR][1000 genomes]
rs2838324	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2838331	0.94[LWK][hapmap];0.87[YRI][hapmap]
rs2838337	1.00[YRI][hapmap]
rs2838339	0.97[LWK][hapmap];1.00[YRI][hapmap]
rs2838347	1.00[CEU][hapmap]
rs28405975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4819219	1.00[YRI][hapmap]
rs4819270	0.87[YRI][hapmap]
rs61737067	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518302	0.97[LWK][hapmap];1.00[YRI][hapmap]
rs718470	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7276215	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7277539	0.94[LWK][hapmap];0.87[YRI][hapmap]
rs73369437	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73908376	1.00[EUR][1000 genomes]
rs8133523	1.00[YRI][hapmap]
rs8133686	1.00[CEU][hapmap]
rs86139	0.83[YRI][hapmap]
rs9306159	0.82[YRI][hapmap]
rs9974343	1.00[CEU][hapmap]
rs9974513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978403	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978934	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979935	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980185	0.80[LWK][hapmap]
rs9980578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981291	0.91[LWK][hapmap];0.82[YRI][hapmap]
rs9984720	1.00[CEU][hapmap]
rs9984724	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44980400-44998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:44983000-44993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:44987200-44994600	Weak transcription	Spleen	Spleen
4	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:44988000-44993800	Enhancers	Fetal Muscle Leg	muscle
7	chr21:44988200-44993200	Enhancers	HSMM	muscle
8	chr21:44988800-44994000	Enhancers	Fetal Brain Male	brain
9	chr21:44988800-44996600	Enhancers	HSMMtube	muscle
10	chr21:44989000-44998000	Weak transcription	Gastric	stomach
11	chr21:44990600-44994400	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:44991000-44993000	Enhancers	Fetal Muscle Trunk	muscle
13	chr21:44991400-44992600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr21:44991800-44993000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr21:44992000-44993000	Enhancers	Fetal Brain Female	brain
16	chr21:44992200-44993000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:44992200-44993000	Enhancers	Fetal Stomach	stomach
18	chr21:44992200-44993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:44992400-44992600	Enhancers	Adipose Nuclei	Adipose
20	chr21:44992400-44993000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:44992400-44993000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:44992400-44994600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:44992400-45004200	Weak transcription	Right Atrium	heart

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