Variant report

Variant	rs9814413
Chromosome Location	chr3:49216603-49216604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49210011..49212298-chr3:49215313..49217112,2	MCF-7	breast:
2	chr3:49136133..49137781-chr3:49215466..49218025,2	K562	blood:
3	chr3:49193599..49196325-chr3:49216577..49219891,3	MCF-7	breast:
4	chr3:49210990..49212498-chr3:49216520..49218077,2	K562	blood:
5	chr3:49214354..49216613-chr3:49252087..49254601,2	K562	blood:

Variant related genes	Relation type
ENSG00000185909	Chromatin interaction
ENSG00000172053	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11717485	1.00[EUR][1000 genomes]
rs13318132	1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs1522929	1.00[EUR][1000 genomes]
rs17080495	1.00[EUR][1000 genomes]
rs17080510	1.00[EUR][1000 genomes]
rs17080567	1.00[EUR][1000 genomes]
rs1996874	1.00[EUR][1000 genomes]
rs28615670	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4452334	1.00[EUR][1000 genomes]
rs4527417	1.00[EUR][1000 genomes]
rs4855872	1.00[EUR][1000 genomes]
rs4855874	1.00[EUR][1000 genomes]
rs4855875	1.00[EUR][1000 genomes]
rs4855876	1.00[EUR][1000 genomes]
rs4855878	1.00[EUR][1000 genomes]
rs4855879	1.00[EUR][1000 genomes]
rs55990645	1.00[EUR][1000 genomes]
rs56101322	1.00[EUR][1000 genomes]
rs56760510	1.00[EUR][1000 genomes]
rs56897974	1.00[EUR][1000 genomes]
rs58914641	1.00[EUR][1000 genomes]
rs58998762	1.00[EUR][1000 genomes]
rs60011446	1.00[EUR][1000 genomes]
rs61008775	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61749312	1.00[EUR][1000 genomes]
rs6446270	1.00[EUR][1000 genomes]
rs6446271	1.00[EUR][1000 genomes]
rs6446273	1.00[EUR][1000 genomes]
rs6446276	1.00[EUR][1000 genomes]
rs6766297	1.00[EUR][1000 genomes]
rs6787665	1.00[EUR][1000 genomes]
rs6793124	1.00[EUR][1000 genomes]
rs72930094	1.00[EUR][1000 genomes]
rs72934791	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72936804	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936810	1.00[EUR][1000 genomes]
rs72936890	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830703	1.00[EUR][1000 genomes]
rs73830704	1.00[EUR][1000 genomes]
rs73830705	1.00[EUR][1000 genomes]
rs73830706	1.00[EUR][1000 genomes]
rs73833525	1.00[EUR][1000 genomes]
rs8179172	1.00[EUR][1000 genomes]
rs9811460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9833422	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837396	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9849446	1.00[EUR][1000 genomes]
rs9861805	1.00[EUR][1000 genomes]
rs9869504	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9875203	1.00[EUR][1000 genomes]
rs9877045	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9881692	0.82[AFR][1000 genomes]
rs9882714	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49211200-49218800	Weak transcription	Fetal Kidney	kidney
2	chr3:49211200-49224600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:49211400-49217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:49212200-49218800	Weak transcription	HepG2	liver
5	chr3:49212800-49217000	Strong transcription	Fetal Stomach	stomach
6	chr3:49213000-49217200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:49213400-49217600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:49213400-49217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:49213800-49217200	Enhancers	Fetal Heart	heart
10	chr3:49213800-49217400	Weak transcription	Fetal Brain Female	brain
11	chr3:49214000-49217400	Weak transcription	Gastric	stomach
12	chr3:49214000-49218000	Weak transcription	Brain Germinal Matrix	brain
13	chr3:49214000-49218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:49214000-49219200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:49214000-49221400	Weak transcription	Liver	Liver
16	chr3:49214000-49224600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:49214200-49217200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:49214200-49217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:49214200-49218000	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:49214200-49220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:49214200-49224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:49214400-49216800	Enhancers	Left Ventricle	heart
23	chr3:49214400-49217200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:49214400-49217800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:49214800-49217800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:49214800-49221400	Weak transcription	Fetal Lung	lung
27	chr3:49214800-49228600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:49215000-49217000	Enhancers	Right Ventricle	heart
29	chr3:49215000-49217600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:49215000-49217600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:49215000-49225400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:49215200-49216800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:49215200-49216800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:49215200-49217400	Weak transcription	Fetal Intestine Large	intestine
35	chr3:49215200-49218000	Weak transcription	Adipose Nuclei	Adipose
36	chr3:49215200-49221400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:49215400-49217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:49215600-49217000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:49215600-49217200	Weak transcription	Aorta	Aorta
40	chr3:49215600-49219200	Weak transcription	Lung	lung
41	chr3:49215600-49229000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:49215800-49217200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:49215800-49217800	Weak transcription	Spleen	Spleen
44	chr3:49216000-49217800	Weak transcription	Right Atrium	heart
45	chr3:49216000-49220000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr3:49216000-49222800	Weak transcription	Fetal Intestine Small	intestine
47	chr3:49216200-49216800	Strong transcription	Fetal Muscle Leg	muscle
48	chr3:49216200-49217800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:49216200-49236400	Weak transcription	Esophagus	oesophagus
50	chr3:49216600-49216800	Enhancers	Ovary	ovary

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