Variant report

Variant	rs73490161
Chromosome Location	chr13:51814364-51814365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51812537..51814566-chr13:51816955..51818623,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1475378	1.00[AMR][1000 genomes]
rs58955860	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61539526	1.00[AMR][1000 genomes]
rs61956862	0.80[AFR][1000 genomes]
rs7323479	1.00[AMR][1000 genomes]
rs73490136	1.00[AMR][1000 genomes]
rs73490138	1.00[AMR][1000 genomes]
rs73490144	1.00[AMR][1000 genomes]
rs73490160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490186	1.00[AMR][1000 genomes]
rs73490189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490197	1.00[AMR][1000 genomes]
rs73492203	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51799800-51818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:51805200-51825600	Weak transcription	Aorta	Aorta
3	chr13:51808000-51821200	Enhancers	Brain Substantia Nigra	brain
4	chr13:51808400-51814400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:51808400-51821400	Enhancers	Fetal Heart	heart
6	chr13:51808600-51820000	Weak transcription	Fetal Brain Female	brain
7	chr13:51808800-51816400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:51809000-51818200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:51810000-51818200	Weak transcription	Brain Germinal Matrix	brain
10	chr13:51810200-51814800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:51810200-51818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:51810200-51820200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:51810400-51814400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:51810400-51814400	Weak transcription	Fetal Stomach	stomach
15	chr13:51810400-51814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:51810400-51816400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:51810400-51818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:51810400-51820000	Weak transcription	Fetal Brain Male	brain
19	chr13:51810600-51815000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr13:51810600-51815000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:51810600-51818200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:51810800-51814600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:51810800-51814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:51811000-51814600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr13:51811400-51814600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:51812000-51816000	Enhancers	Brain Angular Gyrus	brain
27	chr13:51812400-51815000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:51812600-51814600	Weak transcription	Right Atrium	heart
29	chr13:51812600-51820600	Weak transcription	Right Ventricle	heart
30	chr13:51812600-51821000	Weak transcription	Spleen	Spleen
31	chr13:51813000-51814400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr13:51813200-51814800	Weak transcription	Fetal Lung	lung
33	chr13:51813200-51816000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:51813200-51822600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:51813600-51821200	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:51813800-51814800	Enhancers	Rectal Smooth Muscle	rectum
37	chr13:51813800-51816800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr13:51813800-51817400	Enhancers	Brain Hippocampus Middle	brain
39	chr13:51813800-51818600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr13:51814000-51817000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr13:51814000-51817200	Enhancers	Stomach Smooth Muscle	stomach
42	chr13:51814000-51817600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr13:51814000-51819000	Enhancers	Colon Smooth Muscle	Colon
44	chr13:51814000-51820600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr13:51814200-51814600	Weak transcription	Left Ventricle	heart
46	chr13:51814200-51815000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
47	chr13:51814200-51815600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr13:51814200-51817400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:51814200-51820200	Enhancers	Brain Anterior Caudate	brain

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