Variant report

Variant	rs1075989
Chromosome Location	chr4:87829251-87829252
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	chr4:87827990..87830960-chr4:88140987..88142920,2	K562	blood:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10029698	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10034541	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12186239	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13103212	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13112444	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs13114907	0.83[EUR][1000 genomes]
rs13117826	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13131035	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13131194	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13134746	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13142380	0.88[CEU][hapmap]
rs13143520	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13147942	0.89[EUR][1000 genomes]
rs13151671	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13151797	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13434404	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2705623	0.89[EUR][1000 genomes]
rs28407685	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28439108	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28447475	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28457189	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28458234	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs28502831	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28594717	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28610346	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28620528	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28629974	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28661703	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28664715	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28706796	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28729679	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28854225	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28886889	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34077745	0.81[AMR][1000 genomes]
rs34991149	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35480728	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35667731	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36053558	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71605624	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71605686	0.89[EUR][1000 genomes]
rs71605687	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71605688	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71605691	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71605693	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7683045	0.89[EUR][1000 genomes]
rs9993812	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9999001	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814200-87829400	Weak transcription	K562	blood
2	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:87822400-87829800	Weak transcription	Placenta	Placenta
4	chr4:87825600-87829400	Weak transcription	Osteobl	bone
5	chr4:87825600-87830000	Weak transcription	Psoas Muscle	Psoas
6	chr4:87825600-87838800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:87825600-87846000	Weak transcription	Gastric	stomach
8	chr4:87825600-87849400	Weak transcription	Lung	lung
9	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
10	chr4:87825800-87829400	Weak transcription	Primary T cells from cord blood	blood
11	chr4:87825800-87829400	Weak transcription	Small Intestine	intestine
12	chr4:87825800-87829600	Weak transcription	Thymus	Thymus
13	chr4:87825800-87829800	Weak transcription	Fetal Intestine Large	intestine
14	chr4:87825800-87829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:87825800-87830000	Weak transcription	Left Ventricle	heart
16	chr4:87825800-87830000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:87825800-87833000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:87825800-87834400	Weak transcription	Pancreas	Pancrea
19	chr4:87825800-87839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:87825800-87843600	Weak transcription	Brain Anterior Caudate	brain
21	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
23	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
24	chr4:87826000-87832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:87826000-87834400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:87826000-87852400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:87826200-87829400	Weak transcription	Fetal Kidney	kidney
28	chr4:87826200-87831200	Weak transcription	Ovary	ovary
29	chr4:87826200-87841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:87826200-87843000	Weak transcription	Liver	Liver
31	chr4:87826200-87843400	Weak transcription	Brain Substantia Nigra	brain
32	chr4:87826800-87830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:87828400-87829400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:87828600-87830400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:87828600-87830600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:87828600-87833000	Enhancers	GM12878-XiMat	blood
37	chr4:87828800-87829400	Enhancers	Right Atrium	heart
38	chr4:87828800-87830400	Enhancers	Brain Hippocampus Middle	brain
39	chr4:87828800-87830800	Enhancers	Fetal Thymus	thymus
40	chr4:87829000-87829800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr4:87829000-87829800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:87829000-87830200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:87829000-87830200	Enhancers	Dnd41	blood
44	chr4:87829000-87832000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:87829000-87832600	Enhancers	Primary B cells from peripheral blood	blood
46	chr4:87829200-87829400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:87829200-87829400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:87829200-87829400	Flanking Active TSS	Aorta	Aorta
49	chr4:87829200-87829400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr4:87829200-87829600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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