Variant report

Variant	rs74046538
Chromosome Location	chr13:40118600-40118601
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17060288	0.80[ASN][1000 genomes]
rs3764073	0.90[EUR][1000 genomes]
rs56103901	0.96[ASN][1000 genomes]
rs56213801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57628663	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61432896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954148	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61956463	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61956464	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61956467	0.96[ASN][1000 genomes]
rs7317222	0.98[ASN][1000 genomes]
rs7334762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74044105	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs74046534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74046537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74046541	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74046546	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74046552	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs74046553	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs74046554	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74046555	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74046556	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7983392	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7985820	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7985865	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7987557	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9532392	0.98[ASN][1000 genomes]
rs978136	1.00[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
4	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:40111600-40120600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:40113800-40128600	Weak transcription	Ovary	ovary
9	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:40114200-40125200	Weak transcription	HSMM	muscle
11	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:40115600-40120800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:40115600-40133600	Weak transcription	Osteobl	bone
15	chr13:40115800-40120600	Weak transcription	Left Ventricle	heart
16	chr13:40117000-40119600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
19	chr13:40117200-40119200	Enhancers	Fetal Heart	heart
20	chr13:40117600-40126400	Weak transcription	Right Ventricle	heart
21	chr13:40117800-40120000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
23	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:40118000-40122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:40118200-40122600	Weak transcription	NHEK	skin
26	chr13:40118600-40118800	Enhancers	Brain Substantia Nigra	brain

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