Variant report

Variant	rs60571036
Chromosome Location	chr18:43928344-43928345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17767676	1.00[ASN][1000 genomes]
rs442501	1.00[ASN][1000 genomes]
rs59573475	1.00[ASN][1000 genomes]
rs73953823	0.83[AMR][1000 genomes]
rs73953824	0.83[AMR][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	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv576811	chr18:43913732-43930972	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43916200-43929000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr18:43918400-43935800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr18:43919000-43935600	Weak transcription	Fetal Heart	heart
4	chr18:43923800-43929800	Weak transcription	Hela-S3	cervix
5	chr18:43924000-43929600	Weak transcription	Psoas Muscle	Psoas
6	chr18:43924200-43937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43924200-43938200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:43924200-43952800	Weak transcription	Esophagus	oesophagus
9	chr18:43924400-43934800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:43924800-43938400	Weak transcription	Fetal Lung	lung
11	chr18:43925000-43931800	Strong transcription	Fetal Stomach	stomach
12	chr18:43925000-43939400	Weak transcription	Liver	Liver
13	chr18:43925000-43940600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:43925200-43929400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr18:43925200-43930200	Weak transcription	Left Ventricle	heart
16	chr18:43925400-43929400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:43925400-43930400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:43925400-43930400	Weak transcription	Right Ventricle	heart
19	chr18:43925400-43939000	Weak transcription	Lung	lung
20	chr18:43925600-43928600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr18:43925600-43931000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr18:43926000-43928400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:43926000-43930000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr18:43926200-43929600	Weak transcription	Dnd41	blood
25	chr18:43926800-43930200	Weak transcription	Spleen	Spleen
26	chr18:43926800-43957600	Weak transcription	Thymus	Thymus
27	chr18:43927200-43929200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr18:43927200-43930200	Weak transcription	Fetal Thymus	thymus
29	chr18:43927200-43931200	Strong transcription	Brain Germinal Matrix	brain
30	chr18:43927800-43928400	Enhancers	Fetal Brain Male	brain
31	chr18:43927800-43928400	Enhancers	NHEK	skin
32	chr18:43927800-43928800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr18:43927800-43938000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:43928000-43928400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:43928000-43929000	Weak transcription	Fetal Muscle Leg	muscle
36	chr18:43928000-43930200	Strong transcription	Fetal Brain Female	brain
37	chr18:43928000-43938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links