Variant report

Variant	rs11774541
Chromosome Location	chr8:11270993-11270994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11270864..11271417-chr8:11324839..11325370,2	K562	blood:
2	chr8:11270910..11272022-chr8:11411018..11412100,10	MCF-7	breast:
3	chr8:11269234..11272216-chr8:11272728..11274513,2	K562	blood:
4	chr8:11270968..11271833-chr8:11411148..11411819,2	MCF-7	breast:
5	chr8:11270954..11271858-chr8:11324416..11325957,6	MCF-7	breast:
6	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254774	Chromatin interaction
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12156251	1.00[JPT][hapmap]
rs13266957	0.86[ASN][1000 genomes]
rs2001707	0.91[EUR][1000 genomes]
rs2409764	1.00[CHB][hapmap]
rs7836059	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	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
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11774541	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11774541	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs11774541	FAM167A	cis	intralobular white matter	BrainEAC

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11267000-11271400	Enhancers	Fetal Heart	heart
2	chr8:11269000-11271200	Enhancers	Brain Germinal Matrix	brain
3	chr8:11269000-11271400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:11269200-11275600	Enhancers	Fetal Thymus	thymus
5	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
6	chr8:11269600-11271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:11269600-11271800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr8:11269600-11272600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:11269600-11272600	Weak transcription	HSMM	muscle
10	chr8:11269800-11272200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11269800-11274400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:11269800-11274600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:11269800-11274800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:11269800-11275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11269800-11279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:11270000-11271200	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:11270000-11279200	Weak transcription	Brain Anterior Caudate	brain
18	chr8:11270200-11274600	Weak transcription	Brain Substantia Nigra	brain
19	chr8:11270800-11271200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:11270800-11275200	Enhancers	Primary B cells from peripheral blood	blood

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