Variant report

Variant	rs1596524
Chromosome Location	chr12:41187645-41187646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10784861	0.85[AMR][1000 genomes]
rs1579799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1579800	0.85[AMR][1000 genomes]
rs1609894	0.85[AMR][1000 genomes]
rs1947050	0.85[AMR][1000 genomes]
rs4767990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581946	0.85[AMR][1000 genomes]
rs6581956	0.85[AMR][1000 genomes]
rs6581960	0.85[AMR][1000 genomes]
rs6581961	0.85[AMR][1000 genomes]
rs7132626	0.85[AMR][1000 genomes]
rs7294835	0.85[AMR][1000 genomes]
rs7295663	0.85[AMR][1000 genomes]
rs7312640	1.00[AFR][1000 genomes];1.00[AMR][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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469362	chr12:41155000-41206520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv558697	chr12:41155000-41206520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv558698	chr12:41155000-41214848	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41175600-41201800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:41184800-41188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:41185000-41188600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:41186000-41189000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:41186200-41189000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:41186800-41188200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:41186800-41189000	Enhancers	Brain Angular Gyrus	brain
8	chr12:41186800-41189000	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:41187000-41188000	Enhancers	Dnd41	blood
10	chr12:41187000-41189000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:41187200-41188000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:41187200-41188800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:41187200-41188800	Enhancers	Brain Substantia Nigra	brain
14	chr12:41187400-41187800	Enhancers	Brain Hippocampus Middle	brain
15	chr12:41187400-41188000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:41187400-41188200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:41187400-41193600	Weak transcription	A549	lung
18	chr12:41187600-41188000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:41187600-41195400	Weak transcription	Ovary	ovary

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

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