Variant report

Variant	rs72911148
Chromosome Location	chr2:54640424-54640425
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56801102	1.00[AMR][1000 genomes]
rs60870157	1.00[AMR][1000 genomes]
rs72913102	1.00[AMR][1000 genomes]
rs72915026	1.00[AMR][1000 genomes]
rs72920524	1.00[AMR][1000 genomes]
rs72920525	1.00[AMR][1000 genomes]
rs7597532	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54615400-54643000	Weak transcription	Right Ventricle	heart
2	chr2:54618600-54647200	Weak transcription	Left Ventricle	heart
3	chr2:54623600-54643000	Weak transcription	Lung	lung
4	chr2:54631200-54647000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:54631800-54642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54632200-54643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:54637400-54642000	Weak transcription	Right Atrium	heart
8	chr2:54637400-54643000	Weak transcription	Fetal Lung	lung
9	chr2:54637600-54646600	Weak transcription	Brain Substantia Nigra	brain
10	chr2:54639000-54641800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:54639000-54643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:54639400-54643000	Weak transcription	K562	blood
13	chr2:54639400-54644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54639400-54644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:54639400-54657200	Weak transcription	Brain Anterior Caudate	brain

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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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