Variant report

Variant	rs9993812
Chromosome Location	chr4:87832000-87832001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44846337..44846838-chr4:87831915..87832415,2	Hela-S3	cervix:
2	chr4:87831738..87834823-chr4:87927716..87932272,4	K562	blood:
3	chr4:87820850..87822534-chr4:87830208..87832118,2	MCF-7	breast:
4	chr4:87831113..87833915-chr4:87837544..87840445,2	K562	blood:
5	chr4:87822889..87824648-chr4:87830970..87833864,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10029698	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10034541	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1075989	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12186239	0.92[EUR][1000 genomes]
rs13103212	0.88[EUR][1000 genomes]
rs13112444	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13114907	0.82[EUR][1000 genomes]
rs13117826	0.88[EUR][1000 genomes]
rs13131035	0.92[EUR][1000 genomes]
rs13131194	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13134746	0.88[EUR][1000 genomes]
rs13143520	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13147942	0.88[EUR][1000 genomes]
rs13151671	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13151797	0.88[EUR][1000 genomes]
rs13434404	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705623	0.88[EUR][1000 genomes]
rs28407685	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28439108	0.88[EUR][1000 genomes]
rs28447475	0.88[EUR][1000 genomes]
rs28457189	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28458234	1.00[EUR][1000 genomes]
rs28502831	0.92[EUR][1000 genomes]
rs28594717	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28610346	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28620528	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28629974	0.92[EUR][1000 genomes]
rs28661703	0.90[EUR][1000 genomes]
rs28664715	0.92[EUR][1000 genomes]
rs28706796	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28729679	0.88[EUR][1000 genomes]
rs28854225	0.92[EUR][1000 genomes]
rs28886889	0.92[EUR][1000 genomes]
rs34077745	0.86[AMR][1000 genomes]
rs34991149	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35480728	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35667731	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36053558	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71605624	0.85[EUR][1000 genomes]
rs71605686	0.88[EUR][1000 genomes]
rs71605687	0.88[EUR][1000 genomes]
rs71605688	0.92[EUR][1000 genomes]
rs71605691	0.95[EUR][1000 genomes]
rs71605693	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7683045	0.88[EUR][1000 genomes]
rs9999001	0.95[AMR][1000 genomes];0.96[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87825600-87838800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:87825600-87846000	Weak transcription	Gastric	stomach
3	chr4:87825600-87849400	Weak transcription	Lung	lung
4	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
5	chr4:87825800-87833000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:87825800-87834400	Weak transcription	Pancreas	Pancrea
7	chr4:87825800-87839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:87825800-87843600	Weak transcription	Brain Anterior Caudate	brain
9	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
11	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
12	chr4:87826000-87832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:87826000-87834400	Weak transcription	Fetal Intestine Small	intestine
14	chr4:87826000-87852400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:87826200-87841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:87826200-87843000	Weak transcription	Liver	Liver
17	chr4:87826200-87843400	Weak transcription	Brain Substantia Nigra	brain
18	chr4:87828600-87833000	Enhancers	GM12878-XiMat	blood
19	chr4:87829000-87832000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:87829000-87832600	Enhancers	Primary B cells from peripheral blood	blood
21	chr4:87829200-87839800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:87829600-87832600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:87829800-87832200	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:87829800-87832400	Weak transcription	Osteobl	bone
25	chr4:87829800-87833000	Enhancers	Placenta	Placenta
26	chr4:87829800-87855000	Weak transcription	Aorta	Aorta
27	chr4:87830000-87832600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:87830200-87849600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:87830400-87832400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:87830400-87847600	Weak transcription	Thymus	Thymus
32	chr4:87830400-87847800	Weak transcription	Psoas Muscle	Psoas
33	chr4:87830400-87849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:87830400-87854600	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:87830600-87834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:87830600-87839400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:87830600-87839400	Weak transcription	Adipose Nuclei	Adipose
38	chr4:87830600-87843000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:87830600-87843400	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:87830600-87843400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:87830600-87845600	Weak transcription	Left Ventricle	heart
42	chr4:87830800-87832400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:87831000-87855000	Weak transcription	Fetal Lung	lung
44	chr4:87831200-87832400	Enhancers	Fetal Thymus	thymus
45	chr4:87831400-87832800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:87831400-87854400	Weak transcription	Fetal Heart	heart
47	chr4:87831400-87854800	Weak transcription	Right Atrium	heart
48	chr4:87831600-87832000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:87831600-87833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:87831800-87833000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links