Variant report

Variant	rs41286785
Chromosome Location	chr1:91818302-91818303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12125586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128042	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129120	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12129878	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142604	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12144808	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17131428	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17556716	0.90[EUR][1000 genomes]
rs60719104	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726278	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726302	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
3	chr1:91795600-91824200	Weak transcription	Left Ventricle	heart
4	chr1:91804400-91824200	Weak transcription	Ovary	ovary
5	chr1:91804400-91824200	Weak transcription	Pancreas	Pancrea
6	chr1:91804600-91819600	Weak transcription	Fetal Brain Female	brain
7	chr1:91804600-91820400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:91804800-91824200	Weak transcription	Fetal Stomach	stomach
9	chr1:91804800-91824200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:91811200-91824800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:91811600-91819800	Weak transcription	Fetal Lung	lung
12	chr1:91811600-91824400	Weak transcription	Fetal Kidney	kidney
13	chr1:91813400-91829600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:91814800-91819800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:91815600-91819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:91816800-91818600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:91816800-91824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:91817000-91819400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:91818200-91831200	Weak transcription	ES-UCSF4 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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