Variant report

Variant	rs455747
Chromosome Location	chr13:53361230-53361231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs186867	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs235786	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs235789	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs464294	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4885981	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7990605	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9527009	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9527010	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536285	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9536286	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9536287	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv561650	chr13:53357729-53363039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3518185	chr13:53357793-53363410	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv3518196	chr13:53357793-53363410	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv14033	chr13:53357904-53363179	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv561652	chr13:53357923-53362235	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv517434	chr13:53357923-53362695	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv561653	chr13:53357923-53362695	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv561654	chr13:53357923-53363039	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv561655	chr13:53357923-53366885	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv561656	chr13:53358100-53362695	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv561657	chr13:53358598-53361295	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
14	nsv561658	chr13:53358598-53363039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv561659	chr13:53358598-53367433	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv561660	chr13:53358930-53363039	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv1054476	chr13:53359853-53380149	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53357400-53361400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:53357600-53361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:53358800-53362000	Enhancers	Brain Cingulate Gyrus	brain
4	chr13:53359200-53361600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:53359400-53362000	Enhancers	Brain Anterior Caudate	brain
6	chr13:53359400-53362200	Enhancers	Brain Hippocampus Middle	brain
7	chr13:53359400-53362400	Enhancers	Brain Substantia Nigra	brain
8	chr13:53359600-53361800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr13:53359600-53362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:53359600-53362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:53360000-53362000	Enhancers	HMEC	breast
12	chr13:53360400-53361800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:53360800-53362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:53361000-53361600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:53361000-53361800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:53361000-53362000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:53361000-53362600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:53361200-53361800	Enhancers	Brain Angular Gyrus	brain
19	chr13:53361200-53362400	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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