Variant report

Variant	rs55848230
Chromosome Location	chr1:210828754-210828755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56014395	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58481184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717945	0.92[AFR][1000 genomes]
rs74156004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74156014	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158940	0.83[AFR][1000 genomes]
rs74158944	0.90[AFR][1000 genomes]
rs74158946	0.90[AFR][1000 genomes]
rs74158951	0.88[AFR][1000 genomes]
rs74158953	0.90[AFR][1000 genomes]
rs74158954	0.86[AFR][1000 genomes]
rs74158957	0.86[AFR][1000 genomes]
rs74158958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158961	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74158966	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
4	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv873151	chr1:210818347-210846888	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv873152	chr1:210820285-210854815	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210821400-210837000	Weak transcription	Left Ventricle	heart
2	chr1:210824200-210830000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:210827400-210837200	Weak transcription	Right Ventricle	heart
4	chr1:210827600-210828800	Weak transcription	A549	lung
5	chr1:210827600-210829000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:210827600-210829000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:210827600-210829400	Weak transcription	HSMMtube	muscle
8	chr1:210827600-210830200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:210827600-210830400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:210827600-210830400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:210827600-210830400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:210827600-210830600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:210827600-210830600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:210827600-210830600	Weak transcription	Fetal Lung	lung
15	chr1:210827600-210831000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:210827600-210831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:210827600-210831800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:210827600-210836400	Weak transcription	Fetal Heart	heart
19	chr1:210827600-210836800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:210827600-210837000	Weak transcription	Gastric	stomach
21	chr1:210827600-210843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:210827600-210847600	Weak transcription	HSMM	muscle
23	chr1:210827800-210828800	Weak transcription	Spleen	Spleen
24	chr1:210828000-210829000	Enhancers	Fetal Muscle Leg	muscle
25	chr1:210828400-210829000	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:210828600-210828800	Enhancers	NHLF	lung
27	chr1:210828600-210829800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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