Variant report

Variant	rs1104553
Chromosome Location	chr13:96040676-96040677
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10508012	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508013	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1104556	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951044	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218761	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4556671	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7993807	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7994250	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7995565	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7995836	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9561859	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9561860	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9561861	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9561863	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561866	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9561867	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv525525	chr13:96000749-96047070	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2830243	chr13:96001349-96042020	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv524855	chr13:96035883-96047924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3399642	chr13:96039414-96041055	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
9	esv3489165	chr13:96039472-96041062	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	esv3489166	chr13:96039545-96040987	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96037400-96041600	Enhancers	Colon Smooth Muscle	Colon
2	chr13:96037800-96041200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:96038000-96041600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr13:96038800-96041000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:96039000-96040800	Enhancers	Fetal Stomach	stomach
6	chr13:96039200-96041200	Enhancers	Primary B cells from peripheral blood	blood
7	chr13:96039400-96041400	Enhancers	Rectal Smooth Muscle	rectum
8	chr13:96039600-96041000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:96039800-96041600	Bivalent Enhancer	Primary B cells from cord blood	blood
10	chr13:96040000-96041000	Enhancers	Fetal Lung	lung
11	chr13:96040200-96041000	Enhancers	Stomach Smooth Muscle	stomach
12	chr13:96040200-96041200	Enhancers	GM12878-XiMat	blood
13	chr13:96040200-96043800	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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