Variant report

Variant	rs418092
Chromosome Location	chr6:28533946-28533947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28509624..28513880-chr6:28531310..28536044,4	K562	blood:
2	chr6:28531771..28534007-chr6:28582545..28584317,2	K562	blood:
3	chr6:28529471..28535442-chr6:28536902..28541186,7	K562	blood:
4	chr6:28508074..28513880-chr6:28531341..28537609,9	K562	blood:
5	chr6:28457050..28459909-chr6:28532442..28533968,2	K562	blood:
6	chr6:28531413..28534282-chr6:28574437..28577006,3	K562	blood:
7	chr6:28532530..28535314-chr6:28537966..28540071,2	K562	blood:
8	chr6:28532871..28537837-chr6:28545273..28547393,5	K562	blood:

No data

No data

No data

Extended variants
information (count: 12 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2394122	0.87[ASN][1000 genomes]
rs410106	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs414745	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418204	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs418914	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs425615	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs442439	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357070	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs418092	HIST1H2BL	cis	cerebellum	SCAN
rs418092	ZNF192	cis	cerebellum	SCAN
rs418092	HLA-H	cis	multi-tissue	Pritchard
rs418092	ZSCAN23	cis	cerebellum	SCAN
rs418092	BTN3A3	cis	parietal	SCAN
rs418092	ZSCAN23	cis	parietal	SCAN
rs418092	HIST1H2BH	cis	cerebellum	SCAN
rs418092	ZKSCAN3	cis	parietal	SCAN
rs418092	HLA-A	cis	multi-tissue	Pritchard
rs418092	ZNF323	cis	parietal	SCAN
rs418092	HIST1H2BM	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28531600-28535200	Weak transcription	A549	lung
2	chr6:28531800-28534000	Weak transcription	Liver	Liver
3	chr6:28531800-28553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:28532000-28536400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:28532000-28552600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:28533400-28534400	Enhancers	HepG2	liver
7	chr6:28533800-28534000	Flanking Active TSS	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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