Variant report

Variant	rs432971
Chromosome Location	chr10:49456332-49456333
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	chr10:49455171..49459058-chr10:49459196..49462154,3	K562	blood:
3	chr10:49455241..49456959-chr10:49462949..49465290,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK8-4	chr10:49456119-49456389	NONHSAT013262

Variant related genes	Relation type
ENSG00000170324	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	0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730444	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730445	0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730446	1.00[AMR][1000 genomes]
rs2455321	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463958	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652408	0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698764	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280605	1.00[AMR][1000 genomes]
rs280606	1.00[AMR][1000 genomes]
rs280607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280608	0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280615	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280617	1.00[AMR][1000 genomes]
rs413065	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440894	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477761	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211602	1.00[AMR][1000 genomes]
rs572211	0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57415323	0.85[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296348	1.00[AMR][1000 genomes]
rs73296379	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296381	1.00[AMR][1000 genomes]
rs73296382	0.86[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49450800-49459400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:49451600-49459200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:49451800-49458200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:49451800-49459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:49452000-49459400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:49454600-49457600	Enhancers	Right Ventricle	heart
7	chr10:49454800-49457800	Enhancers	Fetal Heart	heart
8	chr10:49455400-49456800	Enhancers	Fetal Lung	lung
9	chr10:49455600-49458400	Enhancers	Fetal Thymus	thymus
10	chr10:49455800-49456400	Enhancers	GM12878-XiMat	blood
11	chr10:49455800-49457000	Weak transcription	Left Ventricle	heart
12	chr10:49455800-49459400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:49456200-49456400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:49456200-49457000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:49456200-49457000	Weak transcription	Right Atrium	heart

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