Variant report

Variant	rs4430689
Chromosome Location	chr15:50295726-50295727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:49898616..49899303-chr15:50295594..50296454,4	MCF-7	breast:
2	chr15:50167321..50168338-chr15:50295602..50296485,4	MCF-7	breast:
3	chr15:50168671..50170291-chr15:50295598..50297002,27	MCF-7	breast:
4	chr15:50168665..50170078-chr15:50295569..50296665,10	MCF-7	breast:
5	chr15:50193943..50194801-chr15:50295649..50296194,2	MCF-7	breast:
6	chr15:50295676..50296612-chr15:50343747..50344632,9	MCF-7	breast:
7	chr15:49763327..49764266-chr15:50295694..50296534,2	K562	blood:
8	chr15:49763251..49764501-chr15:50295657..50296544,5	MCF-7	breast:
9	chr15:50295364..50296554-chr15:50343746..50344327,4	MCF-7	breast:
10	chr15:50293833..50297239-chr15:50342287..50344568,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10220786	0.97[ASN][1000 genomes]
rs10519252	0.86[EUR][1000 genomes]
rs1080476	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs11632984	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs12101586	0.88[ASN][1000 genomes]
rs12442429	0.95[ASN][1000 genomes]
rs12914620	0.87[EUR][1000 genomes]
rs16963149	0.88[ASN][1000 genomes]
rs16963151	0.89[ASN][1000 genomes]
rs7164710	0.95[ASN][1000 genomes]
rs7166047	0.94[ASN][1000 genomes]
rs72623974	0.97[ASN][1000 genomes]
rs8027127	0.88[ASN][1000 genomes]
rs8027524	0.88[ASN][1000 genomes]
rs8027678	0.88[ASN][1000 genomes]
rs8041864	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50278000-50301600	Weak transcription	Liver	Liver
2	chr15:50287600-50296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:50291800-50296200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:50293600-50296200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:50293600-50296400	Enhancers	Colon Smooth Muscle	Colon
6	chr15:50293600-50297200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:50293800-50295800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:50293800-50296000	Weak transcription	Ovary	ovary
9	chr15:50294600-50296600	Enhancers	Hela-S3	cervix
10	chr15:50294800-50295800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr15:50294800-50295800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:50294800-50296200	Weak transcription	Brain Substantia Nigra	brain
13	chr15:50294800-50296400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:50294800-50296800	Enhancers	NHDF-Ad	bronchial
15	chr15:50295000-50295800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:50295000-50296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:50295000-50296800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:50295000-50296800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:50295000-50297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:50295200-50296800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:50295400-50296000	Enhancers	Fetal Heart	heart
22	chr15:50295400-50296200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:50295400-50296200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:50295400-50296600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:50295400-50296600	Enhancers	Fetal Thymus	thymus
26	chr15:50295400-50296600	Enhancers	Osteobl	bone
27	chr15:50295400-50297000	Enhancers	Brain Angular Gyrus	brain
28	chr15:50295400-50297000	Enhancers	Brain Hippocampus Middle	brain
29	chr15:50295600-50295800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr15:50295600-50295800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr15:50295600-50296000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr15:50295600-50296000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr15:50295600-50296000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:50295600-50296000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:50295600-50296000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:50295600-50296000	Enhancers	Fetal Intestine Small	intestine
37	chr15:50295600-50296000	Enhancers	Fetal Lung	lung
38	chr15:50295600-50296000	Flanking Active TSS	A549	lung
39	chr15:50295600-50296000	Enhancers	HSMM	muscle
40	chr15:50295600-50296200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:50295600-50296200	Enhancers	Primary B cells from peripheral blood	blood
42	chr15:50295600-50296200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:50295600-50296200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:50295600-50296200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:50295600-50296200	Enhancers	Adipose Nuclei	Adipose
46	chr15:50295600-50296200	Enhancers	Fetal Muscle Leg	muscle
47	chr15:50295600-50296200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr15:50295600-50296400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr15:50295600-50296400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr15:50295600-50296400	Enhancers	Brain Anterior Caudate	brain

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