Variant report

Variant	rs753646
Chromosome Location	chr1:211686121-211686122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211432929..211435006-chr1:211685831..211687394,2	K562	blood:
2	chr1:211433037..211435006-chr1:211684827..211687394,2	K562	blood:
3	chr1:211679953..211682698-chr1:211686016..211688389,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1020335	0.92[JPT][hapmap]
rs10779561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863903	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863909	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863910	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863912	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863913	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863914	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11119756	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11576596	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12564861	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17017649	0.86[YRI][hapmap]
rs17017672	0.85[JPT][hapmap]
rs2358241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4287239	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951758	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs4951761	0.92[JPT][hapmap]
rs6540685	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693000	0.92[JPT][hapmap]
rs7544195	0.82[EUR][1000 genomes]
rs876649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
2	chr1:211682400-211687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:211682400-211687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:211683600-211686200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:211683800-211686800	Weak transcription	A549	lung
6	chr1:211683800-211687000	Weak transcription	K562	blood
7	chr1:211684200-211686400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:211684400-211686200	Enhancers	HUVEC	blood vessel
9	chr1:211684400-211687000	Weak transcription	Hela-S3	cervix
10	chr1:211684600-211688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:211684800-211686200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:211684800-211688600	Enhancers	HMEC	breast
13	chr1:211685000-211687000	Weak transcription	Osteobl	bone
14	chr1:211685000-211687200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:211685400-211687800	Weak transcription	Thymus	Thymus
16	chr1:211685800-211687000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:211685800-211687200	Weak transcription	NH-A	brain
18	chr1:211686000-211686400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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