Variant report

Variant	rs58850477
Chromosome Location	chr1:221927229-221927230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221921858..221923373-chr1:221925190..221928141,2	K562	blood:
2	chr1:221914501..221916176-chr1:221926215..221930061,3	K562	blood:
3	chr1:221916305..221918049-chr1:221927008..221929788,2	K562	blood:
4	chr1:221924699..221928428-chr1:221930772..221933949,5	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10218652	0.84[EUR][1000 genomes]
rs10863653	0.82[EUR][1000 genomes]
rs10863654	0.84[EUR][1000 genomes]
rs10863655	0.82[EUR][1000 genomes]
rs10863656	0.82[EUR][1000 genomes]
rs11118844	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11118847	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118848	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118854	0.82[EUR][1000 genomes]
rs11118857	0.82[EUR][1000 genomes]
rs11118859	0.82[EUR][1000 genomes]
rs11118860	0.82[EUR][1000 genomes]
rs12070192	0.84[EUR][1000 genomes]
rs12136350	0.81[EUR][1000 genomes]
rs12144586	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12403995	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17010720	0.84[EUR][1000 genomes]
rs4433402	0.84[EUR][1000 genomes]
rs4589119	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601596	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623704	0.82[EUR][1000 genomes]
rs66522549	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6655994	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7516292	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7518806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr1:221917400-221931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221925000-221928200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:221925000-221928200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:221925200-221927400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:221925200-221928200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:221927200-221927400	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:221927200-221927600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:221927200-221927600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:221927200-221927600	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:221927200-221927800	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:221927200-221927800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:221927200-221928600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:221927200-221928600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:221927200-221929800	Enhancers	Primary B cells from peripheral blood	blood

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