Variant report

Variant	rs72913008
Chromosome Location	chr2:54671735-54671736
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	chr2:54669199..54672020-chr2:54682237..54684507,2	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17045769	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72920524	1.00[EUR][1000 genomes]
rs72920525	1.00[EUR][1000 genomes]
rs72920549	1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3460473	chr2:54669151-54673588	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3432347	chr2:54669161-54673587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3460475	chr2:54669165-54673585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54667600-54673400	Weak transcription	Lung	lung
2	chr2:54667800-54673400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:54667800-54673400	Weak transcription	Left Ventricle	heart
4	chr2:54667800-54673400	Weak transcription	Right Atrium	heart
5	chr2:54668000-54673200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:54668400-54673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:54668400-54673200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:54668400-54673200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:54668400-54673200	Weak transcription	Brain Substantia Nigra	brain
10	chr2:54668600-54673400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:54668600-54673400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:54668600-54682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:54668800-54673200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:54668800-54673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:54671400-54671800	Enhancers	HSMMtube	muscle
16	chr2:54671400-54672000	Enhancers	Adipose Nuclei	Adipose
17	chr2:54671400-54672000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:54671600-54672000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:54671600-54672400	Enhancers	HepG2	liver
20	chr2:54671600-54673200	Weak transcription	Fetal Heart	heart

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