Variant report

Variant	rs10211073
Chromosome Location	chr2:113457049-113457050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113448245..113450207-chr2:113454665..113457286,2	MCF-7	breast:
2	chr2:113404072..113406507-chr2:113456887..113458624,2	MCF-7	breast:
3	chr2:113456271..113458679-chr2:113474472..113476820,3	K562	blood:
4	chr2:113456909..113459689-chr2:113463239..113465215,3	K562	blood:
5	chr2:113455109..113458679-chr2:113473651..113476820,4	K562	blood:
6	chr2:113446769..113452405-chr2:113453017..113461667,12	K562	blood:
7	chr2:113414879..113416797-chr2:113454427..113457223,2	K562	blood:

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10173049	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174076	0.93[ASN][1000 genomes]
rs1018317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10201756	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692751	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2222131	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848291	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848292	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848293	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848294	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848295	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848296	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849106	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849107	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849112	0.87[CHB][hapmap]
rs4849113	0.87[CHB][hapmap]
rs6542077	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6542078	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542079	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6542080	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542081	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542082	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73955258	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7567215	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10211073	ZC3H8	cis	cerebellum	SCAN
rs10211073	SLC35F5	cis	cerebellum	SCAN
rs10211073	SLC20A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113451800-113462800	Weak transcription	Dnd41	blood
2	chr2:113454600-113458200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:113454800-113460600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:113455000-113458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113455000-113458200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:113455400-113457600	Enhancers	GM12878-XiMat	blood
7	chr2:113456000-113457800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:113456000-113460000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:113456200-113459400	Enhancers	Primary B cells from cord blood	blood
10	chr2:113456400-113457400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:113456400-113460200	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:113456600-113460000	Enhancers	K562	blood
13	chr2:113456800-113459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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