Variant report

Variant	rs62400819
Chromosome Location	chr6:24739532-24739533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24735312..24737192-chr6:24737819..24739636,2	K562	blood:
2	chr6:24719100..24724705-chr6:24735495..24739885,7	K562	blood:
3	chr6:24738046..24740803-chr6:24741877..24743949,2	K562	blood:
4	chr6:24738215..24741096-chr6:24774621..24776163,2	K562	blood:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000224164	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11559067	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16889567	1.00[ASN][1000 genomes]
rs17243276	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17249561	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17249729	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17412874	1.00[ASN][1000 genomes]
rs17419844	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491730	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212238	1.00[ASN][1000 genomes]
rs62400556	1.00[ASN][1000 genomes]
rs62400558	1.00[ASN][1000 genomes]
rs62400559	1.00[ASN][1000 genomes]
rs62400760	1.00[ASN][1000 genomes]
rs62400773	1.00[ASN][1000 genomes]
rs62400774	1.00[ASN][1000 genomes]
rs62400783	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400786	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400787	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400789	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400790	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62400821	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62400822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62400824	1.00[AFR][1000 genomes]
rs62400829	1.00[AFR][1000 genomes]
rs62400832	1.00[AFR][1000 genomes]
rs62401986	1.00[AFR][1000 genomes]
rs62402860	1.00[ASN][1000 genomes]
rs62402864	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	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 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	chr6:24738800-24739600	Enhancers	Stomach Mucosa	stomach
2	chr6:24738800-24739800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:24739200-24740800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:24739200-24742400	Weak transcription	NHEK	skin
5	chr6:24739200-24742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:24739200-24742800	Weak transcription	K562	blood
7	chr6:24739400-24740800	Weak transcription	Osteobl	bone
8	chr6:24739400-24742000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:24739400-24742400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:24739400-24742400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:24739400-24742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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