Variant report

Variant	rs10089153
Chromosome Location	chr8:10707974-10707975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10698588..10701340-chr8:10707877..10710220,2	MCF-7	breast:
2	chr8:10695954..10697810-chr8:10705274..10708188,2	K562	blood:
3	chr8:10421700..10424416-chr8:10707916..10710717,2	K562	blood:
4	chr8:10707686..10708314-chr8:11136770..11137601,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10046628	0.93[CHB][hapmap];0.95[YRI][hapmap];0.86[ASN][1000 genomes]
rs10091386	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs10093774	0.94[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs10109416	0.94[CHB][hapmap]
rs10109550	0.93[CHB][hapmap]
rs1055329	0.87[YRI][hapmap]
rs11250083	0.82[ASW][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.96[YRI][hapmap];0.89[ASN][1000 genomes]
rs11776674	0.86[CHB][hapmap]
rs11776767	0.88[CHB][hapmap]
rs11986935	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs11996727	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs13254059	0.90[ASN][1000 genomes]
rs13254592	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1469556	0.94[CHB][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs1549796	0.82[ASN][1000 genomes]
rs1991649	0.89[ASN][1000 genomes]
rs1991650	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[ASN][1000 genomes]
rs1991651	0.94[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs2271357	0.87[CHB][hapmap]
rs2278335	0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[YRI][hapmap];0.83[ASN][1000 genomes]
rs2292370	0.88[CHB][hapmap];0.81[CHD][hapmap]
rs2292371	0.81[CHB][hapmap]
rs2409650	0.87[CHB][hapmap]
rs35091929	0.81[ASN][1000 genomes]
rs3808603	0.94[CHB][hapmap];0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs4840519	0.81[ASN][1000 genomes]
rs4841452	0.93[CHB][hapmap]
rs6601534	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs6601536	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs6988598	0.81[CHB][hapmap]
rs6989846	0.93[CHB][hapmap]
rs6990055	0.88[CHB][hapmap]
rs6990589	0.93[CHB][hapmap]
rs6991499	0.88[CHB][hapmap]
rs6991526	0.88[CHB][hapmap]
rs6992366	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs6993121	0.81[CHB][hapmap]
rs7000939	0.88[CHB][hapmap]
rs7001887	0.81[ASN][1000 genomes]
rs7004998	0.88[CHB][hapmap]
rs7005531	0.87[CHB][hapmap]
rs7010680	0.86[ASN][1000 genomes]
rs7010709	0.93[CHB][hapmap];0.84[CHD][hapmap]
rs7012206	0.82[ASN][1000 genomes]
rs7012879	0.88[YRI][hapmap]
rs7013032	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.88[ASN][1000 genomes]
rs7818181	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs7824384	0.93[CHB][hapmap]
rs7829089	0.88[CHB][hapmap]
rs7830317	0.84[ASN][1000 genomes]
rs7830431	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs7833128	0.87[CHB][hapmap];0.86[YRI][hapmap]
rs7833945	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs7840785	0.87[CHB][hapmap]
rs7846449	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10089153	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10707600-10708200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
2	chr8:10707600-10711600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr8:10707800-10708000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:10707800-10708000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:10707800-10708000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:10707800-10708000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:10707800-10708000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:10707800-10708000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:10707800-10708000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr8:10707800-10708000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr8:10707800-10708000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr8:10707800-10708000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr8:10707800-10708000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr8:10707800-10708000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr8:10707800-10708000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:10707800-10708000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:10707800-10708000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr8:10707800-10708000	Bivalent Enhancer	Liver	Liver
19	chr8:10707800-10708000	Enhancers	Brain Angular Gyrus	brain
20	chr8:10707800-10708000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
21	chr8:10707800-10708000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
22	chr8:10707800-10708000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr8:10707800-10708000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr8:10707800-10708000	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr8:10707800-10708000	Enhancers	Fetal Kidney	kidney
26	chr8:10707800-10708000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr8:10707800-10708000	Enhancers	Pancreas	Pancrea
28	chr8:10707800-10708000	Bivalent Enhancer	Right Ventricle	heart
29	chr8:10707800-10708000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr8:10707800-10708000	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr8:10707800-10708000	Bivalent Enhancer	HUVEC	blood vessel
32	chr8:10707800-10708200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:10707800-10708200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:10707800-10708200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:10707800-10708200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:10707800-10708200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:10707800-10708200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr8:10707800-10708200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:10707800-10708200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr8:10707800-10708200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr8:10707800-10708200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:10707800-10708200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:10707800-10708200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:10707800-10708200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:10707800-10708200	Enhancers	Esophagus	oesophagus
46	chr8:10707800-10708200	Enhancers	Fetal Lung	lung
47	chr8:10707800-10708200	Enhancers	Gastric	stomach
48	chr8:10707800-10708200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr8:10707800-10708200	Active TSS	GM12878-XiMat	blood
50	chr8:10707800-10708200	Bivalent Enhancer	HepG2	liver

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