Variant report

Variant	rs4841458
Chromosome Location	chr8:10781688-10781689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10776868..10778872-chr8:10780618..10782659,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10503409	1.00[CHD][hapmap]
rs10903332	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10903333	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11250093	1.00[CHB][hapmap]
rs11250094	1.00[CHB][hapmap]
rs11776011	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11776368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777034	0.81[ASN][1000 genomes]
rs11780501	0.81[ASN][1000 genomes]
rs11783247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11986699	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11990550	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11993591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11998382	1.00[CHD][hapmap]
rs12156345	1.00[CHD][hapmap]
rs12375394	1.00[CHD][hapmap]
rs12546366	1.00[CHB][hapmap]
rs12548184	0.83[ASN][1000 genomes]
rs12750	1.00[CHD][hapmap]
rs1529598	0.86[CEU][hapmap]
rs17720365	1.00[CHD][hapmap]
rs17776427	1.00[CHD][hapmap]
rs17776622	1.00[CHD][hapmap]
rs17776946	1.00[CHD][hapmap]
rs2409654	1.00[CHD][hapmap]
rs2409655	1.00[CHD][hapmap]
rs2409692	1.00[CHB][hapmap]
rs34497451	0.93[ASN][1000 genomes]
rs34741518	0.83[ASN][1000 genomes]
rs4240671	1.00[CHD][hapmap]
rs4240673	1.00[CHB][hapmap]
rs4256557	0.87[ASN][1000 genomes]
rs4310166	1.00[CHD][hapmap]
rs4326350	1.00[CHD][hapmap]
rs4496928	0.81[AMR][1000 genomes]
rs4520127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4554431	1.00[ASN][1000 genomes]
rs4841457	0.83[ASN][1000 genomes]
rs4841460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4841461	0.87[ASN][1000 genomes]
rs57145255	0.87[AMR][1000 genomes]
rs6984496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6988281	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6992103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7005884	1.00[CHB][hapmap]
rs7009920	1.00[CHD][hapmap]
rs7015168	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7016385	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7814762	0.87[ASN][1000 genomes]
rs7823296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7837038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7838335	1.00[CHD][hapmap]
rs7843470	0.94[ASN][1000 genomes]
rs9650658	1.00[CHD][hapmap]
rs9650659	1.00[CHD][hapmap]

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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4841458	DEFB134	cis	cerebellum	SCAN
rs4841458	BLK	cis	lymphoblastoid	seeQTL
rs4841458	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10779400-10785400	Weak transcription	Brain Anterior Caudate	brain
2	chr8:10779400-10785600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:10779600-10785600	Weak transcription	Brain Angular Gyrus	brain
4	chr8:10779800-10782800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:10780000-10785600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10780400-10783200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:10780400-10785400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:10780400-10785800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10780400-10785800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:10780600-10785600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:10781400-10781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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