Variant report

Variant	rs60016474
Chromosome Location	chr13:50494188-50494189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1086510	1.00[EUR][1000 genomes]
rs1241386	1.00[EUR][1000 genomes]
rs2252794	1.00[EUR][1000 genomes]
rs2472595	1.00[EUR][1000 genomes]
rs2740536	1.00[EUR][1000 genomes]
rs2760916	1.00[EUR][1000 genomes]
rs2760917	1.00[EUR][1000 genomes]
rs56794415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58364236	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58438849	1.00[EUR][1000 genomes]
rs58450365	1.00[EUR][1000 genomes]
rs59609469	1.00[EUR][1000 genomes]
rs61384266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706607	1.00[EUR][1000 genomes]
rs706612	1.00[EUR][1000 genomes]
rs7323645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7330228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs790936	1.00[EUR][1000 genomes]
rs790938	1.00[EUR][1000 genomes]
rs7992306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851738	chr13:50474326-50507944	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50476400-50497400	Weak transcription	Pancreas	Pancrea
2	chr13:50477800-50499600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:50478000-50495200	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:50479600-50508600	Weak transcription	K562	blood
5	chr13:50479800-50500000	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:50480800-50508800	Weak transcription	Fetal Brain Male	brain
7	chr13:50481800-50509600	Weak transcription	Right Ventricle	heart
8	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
9	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:50484400-50501800	Weak transcription	HSMMtube	muscle
11	chr13:50484400-50509400	Weak transcription	Fetal Kidney	kidney
12	chr13:50484600-50495200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:50484600-50509600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:50485000-50499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:50485200-50495200	Weak transcription	Small Intestine	intestine
16	chr13:50485800-50501800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:50485800-50506200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:50485800-50509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:50486000-50496200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:50486000-50503400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:50486000-50503400	Strong transcription	Liver	Liver
22	chr13:50486000-50509400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:50486400-50495000	Weak transcription	Fetal Brain Female	brain
24	chr13:50486400-50495200	Weak transcription	Brain Substantia Nigra	brain
25	chr13:50486400-50509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:50486600-50508800	Weak transcription	Hela-S3	cervix
27	chr13:50487400-50509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:50487600-50509400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr13:50487800-50496800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:50488000-50500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:50488400-50509600	Weak transcription	Colonic Mucosa	Colon
32	chr13:50488600-50495200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:50488800-50495200	Weak transcription	Psoas Muscle	Psoas
34	chr13:50488800-50495200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:50488800-50495200	Weak transcription	GM12878-XiMat	blood
36	chr13:50488800-50497800	Weak transcription	A549	lung
37	chr13:50489200-50509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr13:50489200-50510000	Weak transcription	Spleen	Spleen
39	chr13:50489600-50496000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:50489600-50501000	Strong transcription	Osteobl	bone
41	chr13:50489600-50502400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:50489600-50503200	Strong transcription	Adipose Nuclei	Adipose
43	chr13:50489600-50504200	Strong transcription	Fetal Intestine Large	intestine
44	chr13:50490000-50495200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr13:50490000-50495200	Weak transcription	HepG2	liver
46	chr13:50490000-50495800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr13:50490000-50496000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:50490000-50499400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:50490000-50501400	Weak transcription	Fetal Thymus	thymus
50	chr13:50490200-50495200	Strong transcription	Primary monocytes fromperipheralblood	blood

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