Variant report

Variant	rs13408016
Chromosome Location	chr2:47496806-47496807
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47488474..47490725-chr2:47494644..47497319,2	MCF-7	breast:
2	chr2:47394132..47407926-chr2:47492481..47507054,74	K562	blood:
3	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
4	chr2:47495733..47497928-chr2:47539429..47541087,2	MCF-7	breast:
5	chr2:47496586..47498213-chr2:47499758..47501672,2	MCF-7	breast:
6	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
7	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
8	chr2:47212036..47214586-chr2:47495464..47497856,2	MCF-7	breast:
9	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
10	chr2:47476493..47480049-chr2:47496667..47500826,6	MCF-7	breast:
11	chr2:47422552..47429870-chr2:47496148..47502457,12	MCF-7	breast:
12	chr2:47490578..47492989-chr2:47496160..47499559,3	K562	blood:
13	chr2:47442644..47445166-chr2:47495179..47497867,2	MCF-7	breast:
14	chr2:47397785..47406895-chr2:47495364..47504312,55	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10165172	0.88[EUR][1000 genomes]
rs10165417	0.88[EUR][1000 genomes]
rs10168183	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10173957	0.93[EUR][1000 genomes]
rs10176620	0.86[EUR][1000 genomes]
rs10181882	0.94[ASN][1000 genomes]
rs10189331	0.90[EUR][1000 genomes]
rs10191879	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201528	0.90[EUR][1000 genomes]
rs10204097	0.90[EUR][1000 genomes]
rs10204159	0.90[EUR][1000 genomes]
rs10204202	0.90[EUR][1000 genomes]
rs13383554	0.90[EUR][1000 genomes]
rs13383788	0.90[EUR][1000 genomes]
rs13384033	0.90[EUR][1000 genomes]
rs13386635	0.90[EUR][1000 genomes]
rs13387191	0.90[EUR][1000 genomes]
rs13412502	0.90[EUR][1000 genomes]
rs13412948	0.90[EUR][1000 genomes]
rs13422346	0.83[EUR][1000 genomes]
rs28851944	0.91[EUR][1000 genomes]
rs56057658	0.91[EUR][1000 genomes]
rs58176408	0.93[EUR][1000 genomes]
rs59937171	0.91[EUR][1000 genomes]
rs6756103	0.88[ASN][1000 genomes]
rs72806460	0.91[EUR][1000 genomes]
rs72806465	0.91[EUR][1000 genomes]
rs72806485	0.90[EUR][1000 genomes]
rs73926815	0.83[EUR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47490400-47499200	Enhancers	Fetal Intestine Small	intestine
2	chr2:47491200-47499400	Enhancers	Fetal Intestine Large	intestine
3	chr2:47492000-47498800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:47492800-47499200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:47493200-47498600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:47493200-47499400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:47493200-47499400	Weak transcription	Fetal Brain Female	brain
8	chr2:47493400-47498600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:47493400-47499200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:47493400-47500400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47493600-47499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:47493800-47499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47494400-47498600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:47495000-47498800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:47495000-47499000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:47496000-47497000	Enhancers	Fetal Muscle Leg	muscle
17	chr2:47496000-47498000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:47496000-47498000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:47496000-47499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:47496000-47499400	Enhancers	NHDF-Ad	bronchial
21	chr2:47496000-47502200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:47496200-47497000	Enhancers	Osteobl	bone
23	chr2:47496200-47497200	Enhancers	Fetal Stomach	stomach
24	chr2:47496200-47497600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:47496200-47497800	Enhancers	NHLF	lung
26	chr2:47496400-47497000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:47496400-47497000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:47496400-47497000	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:47496400-47497000	Enhancers	Fetal Heart	heart
30	chr2:47496400-47497000	Enhancers	Right Ventricle	heart
31	chr2:47496400-47497000	Enhancers	Spleen	Spleen
32	chr2:47496400-47497000	Enhancers	HSMMtube	muscle
33	chr2:47496400-47497000	Enhancers	NH-A	brain
34	chr2:47496400-47497200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:47496400-47497200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:47496400-47497200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:47496400-47497200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:47496400-47497200	Enhancers	Placenta	Placenta
39	chr2:47496400-47497200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:47496400-47497200	Enhancers	Small Intestine	intestine
41	chr2:47496400-47497400	Enhancers	Psoas Muscle	Psoas
42	chr2:47496400-47497400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:47496400-47497600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:47496400-47497600	Enhancers	K562	blood
45	chr2:47496400-47497800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:47496400-47497800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:47496400-47497800	Enhancers	Adipose Nuclei	Adipose
48	chr2:47496400-47497800	Enhancers	Left Ventricle	heart
49	chr2:47496400-47497800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:47496400-47497800	Flanking Active TSS	A549	lung

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