Variant report

Variant	rs45569838
Chromosome Location	chr15:43623812-43623813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43623811-43624011	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43397435..43400079-chr15:43619938..43624138,3	K562	blood:
2	chr15:43621803..43624734-chr15:43667473..43669999,2	K562	blood:
3	chr15:43620805..43624764-chr15:43626235..43634573,14	K562	blood:
4	chr15:43618581..43624264-chr15:43661265..43664929,7	MCF-7	breast:
5	chr15:43619535..43624096-chr15:43662038..43665421,4	K562	blood:
6	chr15:43621044..43624825-chr15:43626235..43637209,16	K562	blood:
7	chr15:43500155..43503014-chr15:43621772..43625357,3	K562	blood:
8	chr15:43620486..43624109-chr15:43661175..43665421,4	K562	blood:
9	chr15:43512947..43514821-chr15:43621121..43624112,2	K562	blood:

No data

Variant related genes	Relation type
ADAL	TF binding region
LCMT2	TF binding region
ENSG00000137822	Chromatin interaction
ENSG00000159459	Chromatin interaction
ENSG00000166947	Chromatin interaction
ENSG00000140265	Chromatin interaction
ENSG00000168803	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs45442293	1.00[AFR][1000 genomes]
rs45506897	1.00[AFR][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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43620800-43624000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:43621800-43624000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:43623000-43624000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:43623000-43624000	Flanking Active TSS	Hela-S3	cervix
5	chr15:43623200-43624000	Flanking Active TSS	Dnd41	blood
6	chr15:43623200-43628200	Weak transcription	Esophagus	oesophagus
7	chr15:43623200-43628200	Weak transcription	Ovary	ovary
8	chr15:43623200-43630600	Weak transcription	Spleen	Spleen
9	chr15:43623200-43631000	Weak transcription	Lung	lung
10	chr15:43623200-43631000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:43623200-43633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:43623200-43651000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:43623200-43651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:43623200-43651600	Weak transcription	Pancreas	Pancrea
15	chr15:43623400-43624000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:43623400-43624200	Flanking Active TSS	K562	blood
17	chr15:43623400-43625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:43623400-43628200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:43623400-43628200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:43623400-43628200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:43623400-43629600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:43623400-43629600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:43623400-43630000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:43623400-43630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:43623400-43631200	Weak transcription	Placenta	Placenta
26	chr15:43623400-43632800	Weak transcription	Aorta	Aorta
27	chr15:43623400-43639600	Weak transcription	Fetal Kidney	kidney
28	chr15:43623400-43641200	Weak transcription	Colonic Mucosa	Colon
29	chr15:43623400-43644000	Weak transcription	Fetal Thymus	thymus
30	chr15:43623400-43649200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:43623400-43650400	Weak transcription	Fetal Brain Male	brain
32	chr15:43623400-43651000	Weak transcription	Gastric	stomach
33	chr15:43623400-43651000	Weak transcription	Small Intestine	intestine
34	chr15:43623400-43653200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:43623600-43624000	Active TSS	Primary T cells from cord blood	blood
36	chr15:43623600-43624000	Enhancers	Adipose Nuclei	Adipose
37	chr15:43623600-43624000	Enhancers	Liver	Liver
38	chr15:43623600-43624000	Enhancers	Duodenum Mucosa	Duodenum
39	chr15:43623600-43624000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr15:43623600-43624000	Enhancers	NHEK	skin
41	chr15:43623600-43624200	Flanking Active TSS	HepG2	liver
42	chr15:43623600-43624400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:43623600-43624600	Enhancers	Fetal Heart	heart
44	chr15:43623600-43625600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:43623600-43625800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:43623600-43625800	Weak transcription	Primary B cells from cord blood	blood
47	chr15:43623600-43626200	Weak transcription	Left Ventricle	heart
48	chr15:43623600-43627000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:43623600-43627400	Weak transcription	Fetal Intestine Small	intestine
50	chr15:43623600-43627400	Weak transcription	Rectal Mucosa Donor 31	rectum

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