Variant report

Variant	rs1323466
Chromosome Location	chr9:116083248-116083249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116076058..116079132-chr9:116081074..116084162,3	K562	blood:
2	chr9:116074633..116076167-chr9:116080885..116083605,2	K562	blood:
3	chr9:116079156..116083300-chr9:116100482..116103976,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148225	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10114327	0.94[AFR][1000 genomes]
rs10759640	0.92[AFR][1000 genomes]
rs10817481	0.91[AFR][1000 genomes]
rs10981755	0.83[EUR][1000 genomes]
rs10981757	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs10981758	0.87[EUR][1000 genomes]
rs1998503	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2093691	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2296073	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs3810921	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56937115	0.88[EUR][1000 genomes]
rs6478002	0.96[AFR][1000 genomes]
rs6478003	0.90[AFR][1000 genomes]
rs7025371	0.92[AFR][1000 genomes]
rs7027833	0.85[AFR][1000 genomes]
rs7041572	0.96[AFR][1000 genomes]
rs7849513	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7850002	0.88[AFR][1000 genomes]
rs7850264	0.91[AFR][1000 genomes]
rs7863921	0.92[AFR][1000 genomes]
rs7864788	0.96[AFR][1000 genomes]
rs7868271	1.00[YRI][hapmap];0.94[AFR][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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1323466	BSPRY	cis	Heart Left Ventricle	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116055200-116085200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:116056000-116087000	Weak transcription	Thymus	Thymus
3	chr9:116065400-116086800	Weak transcription	Gastric	stomach
4	chr9:116065600-116083400	Weak transcription	Esophagus	oesophagus
5	chr9:116070800-116083800	Weak transcription	Spleen	Spleen
6	chr9:116072000-116085200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:116073800-116101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:116076000-116084600	Weak transcription	HSMMtube	muscle
9	chr9:116076200-116085000	Weak transcription	Placenta	Placenta
10	chr9:116077000-116086800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:116077200-116085600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:116077400-116083800	Strong transcription	Ovary	ovary
13	chr9:116077400-116084000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:116077400-116084200	Strong transcription	Fetal Stomach	stomach
15	chr9:116077400-116101400	Weak transcription	Brain Germinal Matrix	brain
16	chr9:116077400-116101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:116077800-116101200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:116078000-116083800	Weak transcription	Primary T cells from cord blood	blood
19	chr9:116078400-116084200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:116078400-116086400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:116078600-116083600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:116078800-116093600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:116079000-116083800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:116079000-116084200	Strong transcription	Brain Anterior Caudate	brain
25	chr9:116079000-116094600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:116079200-116083600	Strong transcription	Lung	lung
27	chr9:116079200-116084200	Strong transcription	Brain Hippocampus Middle	brain
28	chr9:116079600-116086000	Weak transcription	Fetal Brain Female	brain
29	chr9:116079800-116083800	Strong transcription	Left Ventricle	heart
30	chr9:116079800-116087600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:116080000-116083600	Weak transcription	Fetal Lung	lung
32	chr9:116080200-116084000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:116080400-116083800	Strong transcription	Colon Smooth Muscle	Colon
34	chr9:116080600-116083800	Strong transcription	Right Ventricle	heart
35	chr9:116080600-116084200	Strong transcription	Liver	Liver
36	chr9:116080600-116085000	Weak transcription	Adipose Nuclei	Adipose
37	chr9:116080600-116086600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:116080800-116101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:116080800-116101600	Weak transcription	Fetal Brain Male	brain
40	chr9:116081000-116083800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:116081000-116084200	Strong transcription	Fetal Muscle Leg	muscle
42	chr9:116081000-116085000	Weak transcription	Brain Angular Gyrus	brain
43	chr9:116081000-116101600	Weak transcription	Pancreas	Pancrea
44	chr9:116081400-116098000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:116081800-116083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:116082200-116101600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr9:116082400-116083800	Strong transcription	Fetal Intestine Small	intestine
48	chr9:116082600-116084200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:116082600-116101400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr9:116082800-116085400	Weak transcription	Fetal Intestine Large	intestine

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