Variant report

Variant	rs2033802
Chromosome Location	chr3:105143666-105143667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105141327..105143010-chr3:105143425..105146053,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1036581	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12488994	0.83[CHD][hapmap]
rs13100098	0.83[CHD][hapmap]
rs13100997	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1438538	0.83[CHD][hapmap]
rs2053307	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2178407	0.88[CHD][hapmap]
rs4894924	0.88[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.80[LWK][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6767277	0.83[CHD][hapmap]
rs6769302	0.83[CHD][hapmap]
rs6779807	0.83[CHD][hapmap]
rs6790159	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7428824	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7431531	0.83[CHD][hapmap]
rs7641185	0.94[ASW][hapmap];0.96[CEU][hapmap];0.80[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288803	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9827147	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9827196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864062	0.92[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9870921	0.92[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv877304	chr3:105122214-105198374	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105134400-105145400	Weak transcription	Brain Angular Gyrus	brain
2	chr3:105135000-105145800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:105135200-105152000	Weak transcription	NH-A	brain
4	chr3:105137200-105145400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:105137200-105147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:105137200-105149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:105137400-105149200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:105137400-105178600	Weak transcription	Primary B cells from cord blood	blood
9	chr3:105139400-105147400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:105141600-105147600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:105141800-105145800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:105142200-105147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:105143000-105147400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:105143400-105143800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:105143400-105144400	Enhancers	A549	lung
16	chr3:105143600-105144800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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