Variant report

Variant	rs73554228
Chromosome Location	chr13:93946055-93946056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs60253448	1.00[AMR][1000 genomes]
rs73540341	1.00[AMR][1000 genomes]
rs73540354	1.00[AMR][1000 genomes]
rs73628654	1.00[AMR][1000 genomes]
rs73628694	1.00[AMR][1000 genomes]
rs73628695	1.00[AMR][1000 genomes]
rs74108506	1.00[AMR][1000 genomes]
rs74108508	1.00[AMR][1000 genomes]
rs74108509	1.00[AMR][1000 genomes]
rs7986020	1.00[AMR][1000 genomes]
rs8001040	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9584109	1.00[AMR][1000 genomes]
rs9589718	1.00[AMR][1000 genomes]
rs9589719	1.00[AMR][1000 genomes]
rs9589723	1.00[AMR][1000 genomes]
rs9589725	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93929000-93953800	Weak transcription	Right Atrium	heart
2	chr13:93932400-93952200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:93942800-93955400	Weak transcription	A549	lung
4	chr13:93943400-93947200	Weak transcription	HSMM	muscle
5	chr13:93943600-93962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:93943800-93952400	Weak transcription	Fetal Intestine Small	intestine
7	chr13:93945400-93946200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:93945400-93947600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:93945600-93946600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:93945600-93947000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:93945600-93947200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:93945800-93946200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:93945800-93946200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:93945800-93947000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:93945800-93947200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:93946000-93946200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:93946000-93946600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:93946000-93947000	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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