Variant report

Variant	rs280607
Chromosome Location	chr10:49460925-49460926
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49455171..49457750-chr10:49459859..49462154,2	K562	blood:
2	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:
3	chr10:49460728..49464367-chr10:49465892..49469453,3	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs166815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730444	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730446	1.00[AMR][1000 genomes]
rs2455321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463958	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698764	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280605	1.00[AMR][1000 genomes]
rs280606	1.00[AMR][1000 genomes]
rs280608	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280615	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280617	1.00[AMR][1000 genomes]
rs413065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432971	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440894	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477761	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211602	1.00[AMR][1000 genomes]
rs572211	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57415323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368050	0.83[AMR][1000 genomes]
rs60503953	0.83[AMR][1000 genomes]
rs7068083	1.00[AMR][1000 genomes]
rs7068262	1.00[AMR][1000 genomes]
rs7069773	0.83[AMR][1000 genomes]
rs7073154	1.00[AMR][1000 genomes]
rs73296347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296348	1.00[AMR][1000 genomes]
rs73296379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296381	1.00[AMR][1000 genomes]
rs73296382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296386	0.83[AMR][1000 genomes]
rs73296387	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49458400-49464000	Weak transcription	Right Atrium	heart
2	chr10:49458800-49463600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:49459000-49461400	Enhancers	Fetal Heart	heart
4	chr10:49459000-49463600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:49459000-49463600	Enhancers	HMEC	breast
6	chr10:49459200-49461000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:49459200-49461000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:49459200-49462200	Enhancers	NHEK	skin
9	chr10:49459400-49461000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:49459600-49461000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:49459800-49463400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:49460400-49462000	Weak transcription	Fetal Kidney	kidney
13	chr10:49460600-49464600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:49460600-49465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:49460800-49462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:49460800-49462200	Weak transcription	Esophagus	oesophagus
17	chr10:49460800-49462200	Weak transcription	Left Ventricle	heart
18	chr10:49460800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:49460800-49466200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:49460800-49469200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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