Variant report

Variant	rs1901440
Chromosome Location	chr2:134437959-134437960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10175700	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10439201	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1901436	0.97[ASN][1000 genomes]
rs1901437	0.82[ASN][1000 genomes]
rs1901444	0.90[ASN][1000 genomes]
rs1993135	0.86[ASN][1000 genomes]
rs2321203	0.81[ASN][1000 genomes]
rs2874459	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6430443	0.90[ASN][1000 genomes]
rs6715016	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to gemcitabine in pancreatic cancer	22293537	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134432200-134441000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134433000-134441200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:134434000-134438000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:134434200-134438000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:134434200-134438200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:134434200-134439800	Weak transcription	Fetal Stomach	stomach
7	chr2:134434400-134438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:134434400-134438000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:134434400-134439200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:134434400-134439600	Weak transcription	Left Ventricle	heart
11	chr2:134434400-134439800	Weak transcription	Fetal Lung	lung
12	chr2:134434800-134438000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:134434800-134439800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:134435000-134438000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:134435200-134438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:134437800-134438400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:134437800-134438600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:134437800-134438600	Enhancers	Fetal Heart	heart
19	chr2:134437800-134439800	Enhancers	Brain Inferior Temporal Lobe	brain

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

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