Variant report

Variant	rs2467821
Chromosome Location	chr15:45441432-45441433
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45441420-45441538	K562	blood:	n/a	n/a
2	GATA2	chr15:45440972-45441686	SH-SY5Y	brain:	n/a	chr15:45441435-45441442 chr15:45441672-45441685 chr15:45441435-45441442 chr15:45441435-45441442

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
2	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:

Variant related genes	Relation type
DUOX1	TF binding region
ENSG00000140254	Chromatin interaction
ENSG00000137857	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1648305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648306	0.88[ASN][1000 genomes]
rs1648309	0.88[ASN][1000 genomes]
rs1706778	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706816	0.88[ASN][1000 genomes]
rs1706818	0.88[ASN][1000 genomes]
rs2467825	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55675432	0.97[EUR][1000 genomes]
rs62025132	0.89[EUR][1000 genomes]
rs8043418	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv457125	chr15:45420718-45450323	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv569314	chr15:45420718-45450323	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv520580	chr15:45438537-45457349	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
13	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45427600-45458600	Weak transcription	Right Atrium	heart
2	chr15:45428600-45444400	Weak transcription	Pancreas	Pancrea
3	chr15:45428600-45449000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:45429400-45443800	Weak transcription	Ovary	ovary
5	chr15:45430200-45446200	Weak transcription	Brain Anterior Caudate	brain
6	chr15:45431400-45449000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:45431800-45442600	Weak transcription	Fetal Intestine Small	intestine
8	chr15:45434800-45457800	Weak transcription	Adipose Nuclei	Adipose
9	chr15:45435200-45444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:45436400-45444000	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:45438400-45441600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:45438400-45441600	Genic enhancers	NHEK	skin
13	chr15:45438400-45442600	Weak transcription	Spleen	Spleen
14	chr15:45438800-45441600	Genic enhancers	Esophagus	oesophagus
15	chr15:45438800-45455000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:45439000-45454800	Weak transcription	Stomach Mucosa	stomach
17	chr15:45439000-45457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:45439000-45458000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:45439200-45449800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:45439400-45454800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:45439600-45442600	Weak transcription	Placenta	Placenta
22	chr15:45439800-45455000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:45440000-45441600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:45440200-45441600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:45440200-45441600	Enhancers	HMEC	breast
26	chr15:45440200-45443600	Weak transcription	Right Ventricle	heart
27	chr15:45440200-45443800	Weak transcription	Fetal Intestine Large	intestine
28	chr15:45440400-45443200	Weak transcription	Fetal Stomach	stomach
29	chr15:45440400-45455000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:45440400-45458600	Weak transcription	Aorta	Aorta
31	chr15:45440800-45441600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:45440800-45441600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:45440800-45442600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:45441000-45441600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:45441000-45441600	Strong transcription	Lung	lung
36	chr15:45441000-45449000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45441000-45458000	Weak transcription	Primary T cells from cord blood	blood
38	chr15:45441200-45441600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:45441200-45443000	Weak transcription	Thymus	Thymus
40	chr15:45441200-45443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:45441200-45449200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:45441200-45458000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:45441400-45441600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:45441400-45441800	Strong transcription	Gastric	stomach
45	chr15:45441400-45442600	Weak transcription	Osteobl	bone
46	chr15:45441400-45444600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:45441400-45449000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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