Variant report

Variant	rs10801851
Chromosome Location	chr1:91747006-91747007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:91745154..91747996-chr1:91866350..91867875,2	K562	blood:
2	chr1:91630603..91631513-chr1:91746786..91747465,2	K562	blood:
3	chr1:91746223..91748167-chr1:91868929..91871245,2	K562	blood:

Variant related genes	Relation type
ENSG00000162669	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1034499	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs10801849	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10801850	0.81[AFR][1000 genomes]
rs10922991	0.88[ASN][1000 genomes]
rs10923008	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs1307752	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1583817	0.81[LWK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs1583818	0.95[YRI][hapmap]
rs1595867	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs172191	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes]
rs1822056	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs204304	0.87[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs281959	0.85[YRI][hapmap]
rs281966	0.90[YRI][hapmap]
rs281973	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs281985	0.81[AMR][1000 genomes]
rs282000	0.87[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.84[AMR][1000 genomes]
rs282003	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs282004	0.87[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap]
rs282057	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs3893101	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs605146	0.86[ASN][1000 genomes]
rs664620	0.81[ASN][1000 genomes]
rs665098	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs681589	0.90[YRI][hapmap]
rs693299	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7417055	0.84[LWK][hapmap];0.95[YRI][hapmap]
rs7541566	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9428007	0.86[ASN][1000 genomes]
rs9663060	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9728662	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10801851	HFM1	cis	parietal	SCAN
rs10801851	HFM1	cis	cerebellum	SCAN
rs10801851	RPL5	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91719600-91748400	Weak transcription	Ovary	ovary
2	chr1:91719800-91748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:91738200-91748400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:91744400-91748400	Weak transcription	K562	blood

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