Variant report

Variant	rs13426840
Chromosome Location	chr2:152171253-152171254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10173695	1.00[AMR][1000 genomes]
rs10179626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180428	1.00[AMR][1000 genomes]
rs10190464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191465	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10201647	1.00[AMR][1000 genomes]
rs10202368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10203338	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210009	1.00[AMR][1000 genomes]
rs12328054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385932	1.00[AMR][1000 genomes]
rs13387765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389056	1.00[AMR][1000 genomes]
rs13389461	1.00[AMR][1000 genomes]
rs13390792	1.00[AMR][1000 genomes]
rs13394505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395395	1.00[AMR][1000 genomes]
rs13395749	1.00[AMR][1000 genomes]
rs13399299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412493	1.00[AMR][1000 genomes]
rs13412781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417120	1.00[AMR][1000 genomes]
rs13418019	1.00[AMR][1000 genomes]
rs13418799	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423692	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2303341	1.00[AMR][1000 genomes]
rs28445248	1.00[AMR][1000 genomes]
rs28493579	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529741	1.00[AMR][1000 genomes]
rs3771899	1.00[AMR][1000 genomes]
rs56801020	1.00[AMR][1000 genomes]
rs59089077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59356545	1.00[AMR][1000 genomes]
rs6719796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6724871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9989812	0.86[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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152163800-152171600	Weak transcription	HSMM	muscle
2	chr2:152164000-152171600	Weak transcription	HSMMtube	muscle
3	chr2:152167600-152171400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:152168400-152173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:152169200-152171600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:152169200-152171600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:152169200-152171800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:152169400-152171400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:152169400-152171400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:152169400-152171600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:152169600-152171600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:152169600-152171800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:152169600-152171800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:152170200-152171600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:152171000-152172600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:152171000-152172600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:152171000-152172800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:152171200-152171800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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