Variant report

Variant	rs2026522
Chromosome Location	chr13:39820072-39820073
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39818526..39820381-chr13:39825291..39828049,2	K562	blood:
2	chr13:39814230..39816946-chr13:39818175..39820309,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1577030	0.91[ASN][1000 genomes]
rs1889168	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4328312	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.96[ASN][1000 genomes]
rs4362261	0.87[ASN][1000 genomes]
rs4435117	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4436669	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs544151	0.85[ASN][1000 genomes]
rs60345209	0.84[ASN][1000 genomes]
rs7328575	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330627	0.84[ASN][1000 genomes]
rs7982642	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7988999	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8000494	0.83[EUR][1000 genomes]
rs9315663	0.86[ASN][1000 genomes]
rs9315665	0.81[EUR][1000 genomes]
rs9532346	0.86[ASN][1000 genomes]
rs9532349	0.86[ASN][1000 genomes]
rs9532350	0.86[ASN][1000 genomes]
rs9532351	0.84[ASN][1000 genomes]
rs9532352	0.86[ASN][1000 genomes]
rs9532353	0.84[ASN][1000 genomes]
rs9532354	0.87[ASN][1000 genomes]
rs9532359	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9532360	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9548668	0.80[ASN][1000 genomes]
rs9548669	0.86[ASN][1000 genomes]
rs9548670	0.86[ASN][1000 genomes]
rs9548673	0.86[ASN][1000 genomes]
rs9548674	0.86[ASN][1000 genomes]
rs9548676	0.86[ASN][1000 genomes]
rs9548677	0.86[ASN][1000 genomes]
rs9548678	0.86[ASN][1000 genomes]
rs9548679	0.86[ASN][1000 genomes]
rs9548680	0.86[ASN][1000 genomes]
rs9548681	0.84[ASN][1000 genomes]
rs9548682	0.84[ASN][1000 genomes]
rs9548683	0.86[ASN][1000 genomes]
rs9548692	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9548693	0.90[ASN][1000 genomes]
rs9548695	0.91[ASN][1000 genomes]
rs9548697	0.92[ASN][1000 genomes]
rs9548698	0.92[ASN][1000 genomes]
rs9548699	0.94[ASN][1000 genomes]
rs9576758	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1048391	chr13:39735088-39832358	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1036124	chr13:39735088-39837566	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047276	chr13:39735088-39839257	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv900007	chr13:39801283-39849423	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2026522	LHFP	cis	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39818800-39827800	Weak transcription	Left Ventricle	heart
2	chr13:39819400-39820400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:39819400-39820600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:39819600-39820200	Enhancers	HMEC	breast
5	chr13:39819600-39820400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:39819600-39820800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39819800-39820400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:39820000-39820400	Enhancers	NHEK	skin

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