Variant report

Variant	rs1112600
Chromosome Location	chr1:211055471-211055472
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211053499..211055688-chr1:211056595..211058715,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10494929	0.84[CEU][hapmap]
rs1110266	1.00[LWK][hapmap]
rs1112999	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401745	1.00[ASN][1000 genomes]
rs12404442	0.80[AMR][1000 genomes]
rs12406602	0.84[AMR][1000 genomes]
rs1418972	0.82[AMR][1000 genomes]
rs1539532	0.82[AMR][1000 genomes]
rs17188617	0.80[AMR][1000 genomes]
rs17188623	0.80[AMR][1000 genomes]
rs17188665	1.00[ASN][1000 genomes]
rs17260781	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[MEX][hapmap]
rs17260795	0.88[CEU][hapmap]
rs17260816	1.00[ASW][hapmap];0.86[MEX][hapmap];0.80[AMR][1000 genomes]
rs17260830	0.80[AMR][1000 genomes]
rs17260837	0.84[AMR][1000 genomes]
rs1934611	1.00[ASW][hapmap];0.86[MEX][hapmap]
rs3905343	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61827576	0.84[AMR][1000 genomes]
rs61827577	0.84[AMR][1000 genomes]
rs61827580	0.84[AMR][1000 genomes]
rs61827581	0.84[AMR][1000 genomes]
rs61829494	0.80[AMR][1000 genomes]
rs61848965	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61848966	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61848967	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848972	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658648	1.00[ASN][1000 genomes]
rs6658652	1.00[ASN][1000 genomes]
rs6660844	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695591	0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs72755509	1.00[ASN][1000 genomes]
rs7520827	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7523746	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs7535110	1.00[ASW][hapmap];0.86[MEX][hapmap]
rs7552646	1.00[ASW][hapmap];0.83[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	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv4398	chr1:211034582-211079117	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1112600	KCNH1	cis	parietal	SCAN
rs1112600	ASB9	trans	parietal	SCAN
rs1112600	DTL	cis	cerebellum	SCAN
rs1112600	ELK4	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211054400-211056400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:211055000-211055600	Enhancers	HSMMtube	muscle
3	chr1:211055200-211055600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:211055200-211055600	Enhancers	HSMM	muscle
5	chr1:211055200-211055600	Enhancers	Osteobl	bone
6	chr1:211055200-211055800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:211055200-211056400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:211055200-211058400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:211055400-211055800	Enhancers	NH-A	brain

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