Variant report

Variant	rs4841389
Chromosome Location	chr8:10451585-10451586
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10450511..10453354-chr8:10693058..10695560,2	K562	blood:
2	chr8:10450308..10452176-chr8:10695894..10698184,2	MCF-7	breast:
3	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction
ENSG00000253695	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11250045	0.94[ASN][1000 genomes]
rs11776032	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11780019	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11995259	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12542146	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4840497	0.82[ASN][1000 genomes]
rs55855130	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57550128	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62490812	0.89[ASN][1000 genomes]
rs62490814	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7838913	0.82[ASN][1000 genomes]
rs9644729	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9650655	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv610269	chr8:10416017-10461484	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv610271	chr8:10438796-10459203	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890351	chr8:10439902-10482372	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1031279	chr8:10448142-10501380	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4841389	C8orf12	cis	cerebellum	SCAN
rs4841389	SGCZ	cis	parietal	SCAN
rs4841389	FAM167A	cis	parietal	SCAN
rs4841389	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10439000-10453000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10447800-10452000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr8:10448200-10456200	Weak transcription	Liver	Liver
4	chr8:10449000-10454600	Weak transcription	Spleen	Spleen
5	chr8:10449600-10453800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:10450000-10452000	Enhancers	Brain Anterior Caudate	brain
7	chr8:10450200-10452000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:10450400-10451600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:10450400-10451600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:10450600-10451600	Enhancers	Brain Germinal Matrix	brain
11	chr8:10450600-10451600	Enhancers	Stomach Smooth Muscle	stomach
12	chr8:10450600-10452000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:10450800-10451600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10450800-10451600	Enhancers	Hela-S3	cervix
15	chr8:10451000-10451800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:10451000-10452000	Enhancers	NH-A	brain
17	chr8:10451200-10451800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:10451200-10451800	Enhancers	HMEC	breast
19	chr8:10451200-10452400	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:10451400-10451600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:10451400-10451600	Enhancers	Fetal Kidney	kidney
22	chr8:10451400-10451600	Enhancers	A549	lung
23	chr8:10451400-10451800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:10451400-10451800	Enhancers	Right Atrium	heart

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