Variant report

Variant	rs11787414
Chromosome Location	chr8:8948515-8948516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8946560..8948747-chr8:8951102..8952679,2	K562	blood:
2	chr8:8947247..8949756-chr8:8951102..8953097,2	K562	blood:
3	chr8:8934965..8937761-chr8:8946475..8949446,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11774329	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11775551	0.95[EUR][1000 genomes]
rs11776180	0.95[EUR][1000 genomes]
rs11776235	0.95[EUR][1000 genomes]
rs11778592	0.95[EUR][1000 genomes]
rs11784750	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785652	0.95[EUR][1000 genomes]
rs6601286	0.94[CEU][hapmap]
rs6987277	0.94[CEU][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs7818455	0.94[CEU][hapmap]
rs7825188	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv523098	chr8:8944307-8982396	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv526092	chr8:8944307-8982396	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11787414	ERI1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
2	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8940000-8950000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8940400-8951600	Weak transcription	Fetal Heart	heart
6	chr8:8946200-8952000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:8946400-8951600	Weak transcription	A549	lung
8	chr8:8946400-8953400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:8946600-8951600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:8946600-8951800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:8946600-8953400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:8946600-8953400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:8946800-8951800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:8947000-8949800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:8947200-8949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:8947400-8949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:8947400-8951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:8947400-8951800	Weak transcription	Lung	lung
19	chr8:8947800-8949600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:8948200-8949800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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