Variant report

Variant	rs2363560
Chromosome Location	chr1:215254934-215254935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:215254925-215255291	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KCNK2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10127521	0.90[AMR][1000 genomes]
rs10127656	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10746454	0.91[AMR][1000 genomes]
rs10746455	0.91[AMR][1000 genomes]
rs10779640	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10779642	0.90[AMR][1000 genomes]
rs10779643	0.90[AMR][1000 genomes]
rs10779649	0.85[AMR][1000 genomes]
rs10864150	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864152	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10864154	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11120495	0.91[AMR][1000 genomes]
rs11120497	0.90[AMR][1000 genomes]
rs11120500	0.90[AMR][1000 genomes]
rs1112101	0.83[AMR][1000 genomes]
rs12135076	0.90[AMR][1000 genomes]
rs12141874	0.85[AMR][1000 genomes]
rs12742137	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1361340	0.85[AMR][1000 genomes]
rs1416647	0.83[AMR][1000 genomes]
rs1578137	0.83[AMR][1000 genomes]
rs2363556	0.85[AMR][1000 genomes]
rs2363557	0.90[AMR][1000 genomes]
rs2363558	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363559	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2363566	0.85[AMR][1000 genomes]
rs2363567	0.85[AMR][1000 genomes]
rs2885813	0.90[AMR][1000 genomes]
rs2885815	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4269745	0.90[AMR][1000 genomes]
rs4300189	0.91[AMR][1000 genomes]
rs4303048	0.90[AMR][1000 genomes]
rs4375232	0.80[AMR][1000 genomes]
rs4509553	0.81[AMR][1000 genomes]
rs4531266	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4548407	0.82[AMR][1000 genomes]
rs4571941	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4607848	0.91[AMR][1000 genomes]
rs4655278	0.85[AMR][1000 genomes]
rs4655395	0.85[AMR][1000 genomes]
rs61818297	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61818299	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6657313	0.85[AMR][1000 genomes]
rs6662353	0.90[AMR][1000 genomes]
rs6675926	0.90[AMR][1000 genomes]
rs6678758	0.89[AMR][1000 genomes]
rs6688713	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695967	0.90[AMR][1000 genomes]
rs6696333	0.90[AMR][1000 genomes]
rs7410928	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7513709	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7516689	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7540029	0.84[AMR][1000 genomes]
rs7541543	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7547655	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7551415	0.84[AMR][1000 genomes]
rs7555013	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7555727	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9793690	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215253400-215255000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:215254000-215255000	Enhancers	Osteobl	bone
3	chr1:215254400-215255000	Enhancers	Fetal Brain Male	brain
4	chr1:215254800-215255000	Active TSS	NHDF-Ad	bronchial
5	chr1:215254800-215255200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:215254800-215255400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:215254800-215255400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:215254800-215257400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:215254800-215259000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:215254800-215260000	Active TSS	Fetal Brain Female	brain

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