Variant report

Variant	rs2142035
Chromosome Location	chr21:40213903-40213904
allele	C/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:7)
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	POLR2A	chr21:40211696-40213920	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40212464..40216526-chr21:40217329..40223088,8	MCF-7	breast:
2	chr21:40208198..40210644-chr21:40213695..40215361,2	K562	blood:
3	chr21:40180758..40183425-chr21:40212038..40214532,3	K562	blood:
4	chr21:40209482..40212563-chr21:40213470..40216289,3	MCF-7	breast:
5	chr21:40209144..40212226-chr21:40213678..40216387,3	K562	blood:
6	chr21:40190407..40192977-chr21:40211375..40214122,2	MCF-7	breast:
7	chr21:40180448..40182258-chr21:40212420..40214103,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229986	TF binding region
ENSG00000229986	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1000844	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs1009121	0.88[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1051420	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1051475	0.88[ASN][1000 genomes]
rs1051476	0.82[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10854389	0.83[ASN][1000 genomes]
rs11088450	0.88[ASN][1000 genomes]
rs11088451	0.88[ASN][1000 genomes]
rs11088452	0.87[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11088453	0.90[ASN][1000 genomes]
rs11088454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1123350	0.94[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11254	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11701191	0.88[ASN][1000 genomes]
rs11701500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11702403	0.89[ASN][1000 genomes]
rs12481740	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12482470	0.88[ASN][1000 genomes]
rs12483746	0.96[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12627283	0.88[ASN][1000 genomes]
rs13046853	0.88[ASN][1000 genomes]
rs13047133	0.88[ASN][1000 genomes]
rs13047537	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13047745	0.88[ASN][1000 genomes]
rs13048035	0.86[ASN][1000 genomes]
rs13050340	0.90[ASN][1000 genomes]
rs1571707	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2070531	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2836683	0.88[ASN][1000 genomes]
rs2836684	0.88[ASN][1000 genomes]
rs2836685	0.88[ASN][1000 genomes]
rs2836686	0.88[ASN][1000 genomes]
rs2836687	0.88[ASN][1000 genomes]
rs2836688	0.88[ASN][1000 genomes]
rs2836689	0.88[ASN][1000 genomes]
rs2836690	0.88[ASN][1000 genomes]
rs2836691	0.88[ASN][1000 genomes]
rs2836692	0.88[ASN][1000 genomes]
rs2836693	0.88[ASN][1000 genomes]
rs2836694	0.88[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs2836710	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7282444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7282723	0.88[ASN][1000 genomes]
rs762386	0.94[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs762387	0.88[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs9941892	0.82[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs998855	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40210000-40214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:40210000-40214000	Enhancers	NHEK	skin
5	chr21:40210000-40214200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:40210000-40214200	Enhancers	HMEC	breast
7	chr21:40212200-40215400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:40212200-40215400	Weak transcription	HSMMtube	muscle
9	chr21:40212200-40215600	Weak transcription	HUVEC	blood vessel
10	chr21:40212400-40215200	Weak transcription	HSMM	muscle
11	chr21:40212400-40215400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:40212400-40215400	Weak transcription	NHLF	lung
13	chr21:40212400-40215600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:40212600-40215400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:40212800-40215400	Weak transcription	NH-A	brain
16	chr21:40213000-40215200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:40213000-40219200	Weak transcription	Right Atrium	heart
18	chr21:40213400-40214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:40213400-40215200	Weak transcription	Osteobl	bone
20	chr21:40213600-40215000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr21:40213600-40215200	Weak transcription	NHDF-Ad	bronchial
22	chr21:40213800-40214000	Enhancers	Fetal Kidney	kidney
23	chr21:40213800-40214400	Enhancers	Fetal Stomach	stomach
24	chr21:40213800-40215600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:40213800-40215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:40213800-40219200	Weak transcription	Hela-S3	cervix

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