Variant report

Variant	rs2594275
Chromosome Location	chr4:87830691-87830692
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:
2	chr4:87820850..87822534-chr4:87830208..87832118,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13109353	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6811156	1.00[AMR][1000 genomes]
rs6840031	1.00[AMR][1000 genomes]
rs7692406	1.00[AMR][1000 genomes]
rs7699431	1.00[AMR][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:56 , 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	chr4:87826200-87831200	Weak transcription	Ovary	ovary
16	chr4:87826200-87841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:87826200-87843000	Weak transcription	Liver	Liver
18	chr4:87826200-87843400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:87828600-87833000	Enhancers	GM12878-XiMat	blood
20	chr4:87828800-87830800	Enhancers	Fetal Thymus	thymus
21	chr4:87829000-87832000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:87829000-87832600	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:87829200-87831400	Enhancers	Fetal Heart	heart
24	chr4:87829200-87839800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:87829400-87830800	Weak transcription	Right Atrium	heart
26	chr4:87829600-87832600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:87829800-87831000	Enhancers	Fetal Lung	lung
28	chr4:87829800-87831600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:87829800-87831800	Enhancers	Primary B cells from cord blood	blood
30	chr4:87829800-87832200	Enhancers	Primary hematopoietic stem cells	blood
31	chr4:87829800-87832400	Weak transcription	Osteobl	bone
32	chr4:87829800-87833000	Enhancers	Placenta	Placenta
33	chr4:87829800-87855000	Weak transcription	Aorta	Aorta
34	chr4:87830000-87831000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:87830000-87831400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:87830000-87832600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:87830200-87830800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:87830200-87830800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:87830200-87831000	Weak transcription	K562	blood
40	chr4:87830200-87831600	Enhancers	Stomach Smooth Muscle	stomach
41	chr4:87830200-87849600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:87830400-87830800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:87830400-87830800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:87830400-87832400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:87830400-87847600	Weak transcription	Thymus	Thymus
47	chr4:87830400-87847800	Weak transcription	Psoas Muscle	Psoas
48	chr4:87830400-87849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:87830400-87854600	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:87830600-87834200	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links