Variant report

Variant	rs4841548
Chromosome Location	chr8:11374779-11374780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11370033..11372316-chr8:11374081..11376704,2	K562	blood:
2	chr8:11369455..11372316-chr8:11373710..11376704,2	K562	blood:
3	chr8:11322370..11324874-chr8:11373322..11375759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250146	1.00[CHB][hapmap]
rs11775640	1.00[ASN][1000 genomes]
rs11775779	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11776834	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11777273	1.00[CHB][hapmap]
rs11778177	1.00[ASN][1000 genomes]
rs11780432	1.00[ASN][1000 genomes]
rs11780980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11781057	1.00[ASN][1000 genomes]
rs11781400	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784897	1.00[ASN][1000 genomes]
rs11786272	1.00[ASN][1000 genomes]
rs11787217	1.00[ASN][1000 genomes]
rs11787286	1.00[ASN][1000 genomes]
rs12156238	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13254568	1.00[ASN][1000 genomes]
rs13272061	1.00[CHB][hapmap]
rs13280447	1.00[ASN][1000 genomes]
rs13281992	1.00[ASN][1000 genomes]
rs13439415	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13439487	1.00[ASN][1000 genomes]
rs1382567	1.00[CHB][hapmap]
rs1478890	1.00[CHB][hapmap]
rs17744726	1.00[CHB][hapmap]
rs17807523	1.00[ASN][1000 genomes]
rs2127127	1.00[CHB][hapmap]
rs2169888	1.00[ASN][1000 genomes]
rs2245232	1.00[CHB][hapmap]
rs2251937	1.00[ASN][1000 genomes]
rs2264306	1.00[CHB][hapmap]
rs2264866	1.00[CHB][hapmap]
rs2409776	1.00[ASN][1000 genomes]
rs2409777	1.00[ASN][1000 genomes]
rs2409779	1.00[ASN][1000 genomes]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap]
rs2618434	1.00[CHB][hapmap]
rs2736342	1.00[CHB][hapmap]
rs28485693	1.00[ASN][1000 genomes]
rs28680779	1.00[ASN][1000 genomes]
rs34281672	1.00[ASN][1000 genomes]
rs34365278	1.00[ASN][1000 genomes]
rs34443092	1.00[ASN][1000 genomes]
rs34906655	1.00[ASN][1000 genomes]
rs35451013	1.00[ASN][1000 genomes]
rs35619722	1.00[ASN][1000 genomes]
rs35620480	1.00[ASN][1000 genomes]
rs35669118	1.00[ASN][1000 genomes]
rs35822699	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963991	1.00[ASN][1000 genomes]
rs36043848	1.00[ASN][1000 genomes]
rs4606022	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840567	1.00[CHB][hapmap]
rs4840570	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841541	1.00[ASN][1000 genomes]
rs4841545	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841560	1.00[ASN][1000 genomes]
rs4841567	1.00[CHB][hapmap]
rs4841571	1.00[ASN][1000 genomes]
rs56302795	1.00[ASN][1000 genomes]
rs57526558	1.00[ASN][1000 genomes]
rs66617246	1.00[ASN][1000 genomes]
rs67390008	1.00[ASN][1000 genomes]
rs6984115	1.00[ASN][1000 genomes]
rs6999912	1.00[CHB][hapmap]
rs7010648	1.00[ASN][1000 genomes]
rs73201420	1.00[ASN][1000 genomes]
rs7464263	1.00[CHB][hapmap]
rs7822109	1.00[CHB][hapmap]
rs7823274	1.00[ASN][1000 genomes]
rs7831369	1.00[ASN][1000 genomes]
rs7831885	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs936546	1.00[ASN][1000 genomes]
rs9650624	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4841548	FLJ10661	cis	cerebellum	SCAN
rs4841548	C8orf79	cis	cerebellum	SCAN
rs4841548	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs4841548	CLDN23	cis	multi-tissue	Pritchard
rs4841548	PPP1R3B	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11366600-11375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11368800-11375800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:11370200-11375000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:11370600-11375400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:11372000-11376000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:11372200-11386000	Weak transcription	Spleen	Spleen
8	chr8:11372400-11374800	Enhancers	HMEC	breast
9	chr8:11372600-11375000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:11373000-11376600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:11373600-11375400	Weak transcription	Fetal Thymus	thymus
12	chr8:11373800-11376000	Strong transcription	GM12878-XiMat	blood
13	chr8:11374000-11374800	Enhancers	HUVEC	blood vessel
14	chr8:11374000-11375000	Enhancers	NHEK	skin
15	chr8:11374000-11376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:11374400-11376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:11374400-11376400	Weak transcription	Osteobl	bone
18	chr8:11374600-11375800	Strong transcription	Primary B cells from cord blood	blood

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