Variant report

Variant	rs4404876
Chromosome Location	chr8:10403088-10403089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10402409..10405026-chr8:10406767..10409505,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10086002	0.95[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10088572	0.82[ASN][1000 genomes]
rs10106714	0.81[ASN][1000 genomes]
rs11250028	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11250029	0.83[ASN][1000 genomes]
rs11777282	0.94[ASN][1000 genomes]
rs12541597	0.88[ASN][1000 genomes]
rs12542271	0.83[ASN][1000 genomes]
rs12549461	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs12549899	0.83[ASN][1000 genomes]
rs12674734	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676504	0.95[ASN][1000 genomes]
rs12676744	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13266722	0.91[ASN][1000 genomes]
rs13266727	0.91[ASN][1000 genomes]
rs28373124	0.89[ASN][1000 genomes]
rs34356138	0.82[ASN][1000 genomes]
rs34770482	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34999153	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35276159	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35427890	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35847318	0.92[ASN][1000 genomes]
rs35858883	0.88[ASN][1000 genomes]
rs4240654	0.90[ASN][1000 genomes]
rs4398871	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4840489	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4841369	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4841370	0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4841371	1.00[CEU][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55700180	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55894133	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986876	0.94[ASN][1000 genomes]
rs6987477	0.89[ASN][1000 genomes]
rs7007023	0.89[ASN][1000 genomes]
rs7007213	0.89[ASN][1000 genomes]
rs71516582	0.83[ASN][1000 genomes]
rs71516583	0.84[ASN][1000 genomes]
rs7815466	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820225	0.88[GIH][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7842540	0.83[ASN][1000 genomes]
rs7843134	0.82[ASN][1000 genomes]
rs7846127	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846484	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9801782	0.81[ASN][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	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	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4404876	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10397800-10403400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:10402600-10405200	Enhancers	Fetal Brain Male	brain
3	chr8:10402800-10403200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:10402800-10403200	Enhancers	HSMMtube	muscle
5	chr8:10402800-10403600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:10402800-10403800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:10402800-10403800	Enhancers	Brain Germinal Matrix	brain
8	chr8:10402800-10403800	Enhancers	Rectal Smooth Muscle	rectum
9	chr8:10402800-10404800	Enhancers	Colon Smooth Muscle	Colon
10	chr8:10403000-10403200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:10403000-10403200	Enhancers	Fetal Brain Female	brain
12	chr8:10403000-10403200	Enhancers	NHDF-Ad	bronchial
13	chr8:10403000-10403600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:10403000-10403600	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:10403000-10403800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr8:10403000-10404000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:10403000-10404000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:10403000-10404200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:10403000-10404600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr8:10403000-10404600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:10403000-10405400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:10403000-10405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:10403000-10405600	Enhancers	Left Ventricle	heart

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