Variant report

Variant	rs669325
Chromosome Location	chr11:86198335-86198336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86198272..86199275-chr11:86282316..86283020,3	MCF-7	breast:
2	chr11:86197110..86198736-chr11:86234162..86236654,3	MCF-7	breast:
3	chr11:86197644..86200072-chr11:86202329..86204478,2	MCF-7	breast:
4	chr11:86196494..86198904-chr11:86208751..86212167,3	MCF-7	breast:
5	chr11:86169610..86171633-chr11:86195084..86198492,3	MCF-7	breast:
6	chr11:86198284..86201333-chr11:86223317..86226180,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1056194	0.86[ASW][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap]
rs10898483	0.80[CHB][hapmap]
rs11234691	0.91[JPT][hapmap]
rs2125362	0.83[LWK][hapmap]
rs2446224	0.95[CHB][hapmap]
rs2446225	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2446230	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511082	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs2511083	0.91[ASN][1000 genomes]
rs4944575	0.80[LWK][hapmap]
rs4944580	0.86[ASW][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap]
rs4944588	0.86[ASN][1000 genomes]
rs579719	0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs582282	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.86[ASN][1000 genomes]
rs583594	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs584953	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs587362	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs590750	0.86[ASN][1000 genomes]
rs601646	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs610790	0.90[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611156	0.86[MEX][hapmap]
rs611730	0.90[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs614995	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[ASN][1000 genomes]
rs616794	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs620054	0.84[ASN][1000 genomes]
rs621653	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs630454	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs631082	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs632873	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs633708	0.88[ASN][1000 genomes]
rs638492	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.80[LWK][hapmap];0.91[ASN][1000 genomes]
rs641541	0.83[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs643414	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs647561	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs653715	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs658324	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs660372	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs661163	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs661328	0.90[ASN][1000 genomes]
rs663208	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs664613	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs675775	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs676106	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs677301	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs677643	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs679977	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs681333	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs683899	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs669325	PRSS23	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
3	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:86181800-86208800	Weak transcription	Gastric	stomach
6	chr11:86187600-86201200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:86187800-86203200	Weak transcription	Fetal Heart	heart
9	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:86189400-86206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:86191800-86198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:86192200-86198600	Enhancers	NHDF-Ad	bronchial
15	chr11:86192200-86208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:86192400-86198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
18	chr11:86195000-86203200	Enhancers	Fetal Brain Male	brain
19	chr11:86195200-86201200	Weak transcription	Spleen	Spleen
20	chr11:86195200-86208400	Weak transcription	Right Ventricle	heart
21	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:86195600-86202800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:86195600-86203600	Weak transcription	Aorta	Aorta
24	chr11:86195800-86206400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:86196000-86203000	Weak transcription	Left Ventricle	heart
26	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:86196200-86208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
29	chr11:86196400-86198800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:86196400-86201800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:86196400-86208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:86196600-86198400	Enhancers	Fetal Brain Female	brain
33	chr11:86196600-86199400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:86196600-86199600	Weak transcription	Adipose Nuclei	Adipose
35	chr11:86196600-86199800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:86196600-86201800	Weak transcription	Fetal Intestine Large	intestine
37	chr11:86196600-86203600	Weak transcription	Ovary	ovary
38	chr11:86196600-86208200	Weak transcription	Osteobl	bone
39	chr11:86196800-86198600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:86196800-86198600	Strong transcription	Fetal Intestine Small	intestine
41	chr11:86196800-86199000	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:86196800-86199800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:86196800-86208000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:86197000-86198600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:86197000-86198800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:86197000-86198800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:86197000-86199600	Weak transcription	Stomach Mucosa	stomach
48	chr11:86197000-86208000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:86197800-86198600	Enhancers	Esophagus	oesophagus

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