Variant report

Variant	rs72948073
Chromosome Location	chr1:72294998-72294999
allele	C/T
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:12)

rs_ID	r²[population]
rs17091824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091839	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1933150	1.00[AMR][1000 genomes]
rs59762420	1.00[AMR][1000 genomes]
rs61563642	1.00[AMR][1000 genomes]
rs72942257	1.00[AMR][1000 genomes]
rs72944119	1.00[AMR][1000 genomes]
rs72948063	1.00[AMR][1000 genomes]
rs72948065	1.00[AMR][1000 genomes]
rs72948074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1008210	chr1:72099161-72374197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv830181	chr1:72155983-72296578	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv2762150	chr1:72271227-72395953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72292200-72299400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:72293000-72295000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:72293200-72295200	Enhancers	Brain Anterior Caudate	brain
4	chr1:72293200-72295400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:72293200-72300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:72293200-72301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:72294200-72295000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:72294400-72295200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:72294400-72295200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:72294600-72300400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:72294600-72300400	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:72294800-72296800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:72294800-72297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:72294800-72299400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:72294800-72302200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:72294800-72302400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:72294800-72302600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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