Variant report

Variant	rs572211
Chromosome Location	chr10:49457741-49457742
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	chr10:49455171..49457750-chr10:49459859..49462154,2	K562	blood:
2	chr10:49455171..49459058-chr10:49459196..49462154,3	K562	blood:

Variant related genes	Relation type
ENSG00000170324	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs166815	0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730444	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730445	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1730446	1.00[AMR][1000 genomes]
rs2455321	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463956	0.85[YRI][hapmap]
rs2463958	0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652408	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698764	0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280605	1.00[AMR][1000 genomes]
rs280606	1.00[AMR][1000 genomes]
rs280607	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280608	0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280615	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs280617	1.00[AMR][1000 genomes]
rs413065	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432971	0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477761	0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57211602	1.00[AMR][1000 genomes]
rs57415323	0.91[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296348	1.00[AMR][1000 genomes]
rs73296379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296381	1.00[AMR][1000 genomes]
rs73296382	0.93[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:14 , 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	chr10:49454800-49457800	Enhancers	Fetal Heart	heart
7	chr10:49455600-49458400	Enhancers	Fetal Thymus	thymus
8	chr10:49455800-49459400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:49456800-49458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:49457000-49458200	Enhancers	Left Ventricle	heart
11	chr10:49457000-49458400	Enhancers	Right Atrium	heart
12	chr10:49457000-49459400	Weak transcription	GM12878-XiMat	blood
13	chr10:49457000-49460800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:49457600-49459400	Weak transcription	Right Ventricle	heart

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