Variant report

Variant	rs12753862
Chromosome Location	chr1:45034698-45034699
allele	C/G
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:16)

rs_ID	r²[population]
rs10157653	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1020665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211013	1.00[ASN][1000 genomes]
rs11810526	1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs13373830	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1889759	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs2355354	1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs2378722	1.00[CEU][hapmap]
rs28404710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35789261	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61787551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683193	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6683304	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71653919	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74070526	1.00[ASN][1000 genomes]
rs755597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 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	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45023000-45036200	Enhancers	Brain Substantia Nigra	brain
3	chr1:45023800-45047600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:45029400-45038400	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:45029800-45047800	Enhancers	Brain Hippocampus Middle	brain
6	chr1:45031200-45036400	Enhancers	Brain Angular Gyrus	brain
7	chr1:45031200-45040000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:45031600-45037000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:45032200-45035200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:45032200-45036200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:45032200-45041000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:45032400-45042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:45033000-45037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:45033400-45039800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:45034400-45039800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:45034600-45035000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:45034600-45035000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:45034600-45035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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