Variant report

Variant	rs2540242
Chromosome Location	chr2:39932839-39932840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39931730..39934991-chr2:39935241..39938593,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2540233	0.85[AMR][1000 genomes]
rs2716700	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72934285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39923600-39935200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39925000-39957600	Weak transcription	Fetal Stomach	stomach
3	chr2:39925200-39950000	Weak transcription	Left Ventricle	heart
4	chr2:39931400-39934200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:39931400-39937600	Weak transcription	Brain Anterior Caudate	brain
6	chr2:39931400-39941200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:39931400-39957600	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:39931600-39933400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:39931600-39934200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:39931600-39945800	Weak transcription	Aorta	Aorta
11	chr2:39932200-39934600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:39932600-39933400	Strong transcription	HSMMtube	muscle
13	chr2:39932800-39933000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:39932800-39933000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:39932800-39933200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:39932800-39933400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:39932800-39933400	Enhancers	Fetal Thymus	thymus
18	chr2:39932800-39933400	Enhancers	NHEK	skin
19	chr2:39932800-39933600	Bivalent Enhancer	HepG2	liver
20	chr2:39932800-39933600	Enhancers	HMEC	breast
21	chr2:39932800-39934600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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