Variant report

Variant	rs57677579
Chromosome Location	chr2:144835048-144835049
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12613814	0.81[AFR][1000 genomes]
rs1427310	0.84[AFR][1000 genomes]
rs1861878	0.80[AFR][1000 genomes]
rs1864245	0.80[AFR][1000 genomes]
rs28679451	0.80[AFR][1000 genomes]
rs3820756	0.80[AFR][1000 genomes]
rs55637225	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55915218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56001970	1.00[AMR][1000 genomes]
rs56136411	0.80[AFR][1000 genomes]
rs56258437	1.00[AMR][1000 genomes]
rs56395361	0.84[AFR][1000 genomes]
rs56396630	1.00[AMR][1000 genomes]
rs57183340	1.00[AMR][1000 genomes]
rs57398691	1.00[AMR][1000 genomes]
rs57410426	1.00[AMR][1000 genomes]
rs57783534	1.00[AMR][1000 genomes]
rs58722310	1.00[AMR][1000 genomes]
rs59033824	0.84[AFR][1000 genomes]
rs59290279	1.00[AMR][1000 genomes]
rs59430219	1.00[AMR][1000 genomes]
rs59467006	0.87[AFR][1000 genomes]
rs59505116	1.00[AMR][1000 genomes]
rs60225630	1.00[AMR][1000 genomes]
rs60644335	1.00[AMR][1000 genomes]
rs60696610	1.00[AMR][1000 genomes]
rs61639522	1.00[AMR][1000 genomes]
rs72852969	0.80[AFR][1000 genomes]
rs72852985	0.80[AFR][1000 genomes]
rs72852992	0.80[AFR][1000 genomes]
rs73962140	1.00[AMR][1000 genomes]
rs73962146	1.00[AMR][1000 genomes]
rs73962150	1.00[AMR][1000 genomes]
rs73962193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964930	0.81[AFR][1000 genomes]
rs73964931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964932	1.00[AMR][1000 genomes]
rs73964942	1.00[AMR][1000 genomes]
rs73964945	1.00[AMR][1000 genomes]
rs73964947	1.00[AMR][1000 genomes]
rs73964949	1.00[AMR][1000 genomes]
rs73964951	1.00[AMR][1000 genomes]
rs73964952	1.00[AMR][1000 genomes]
rs73964953	1.00[AMR][1000 genomes]
rs73964955	1.00[AMR][1000 genomes]
rs73964957	1.00[AMR][1000 genomes]
rs73964962	1.00[AMR][1000 genomes]
rs73964964	1.00[AMR][1000 genomes]
rs73964965	1.00[AMR][1000 genomes]
rs73964969	1.00[AMR][1000 genomes]
rs73964970	1.00[AMR][1000 genomes]
rs73964972	1.00[AMR][1000 genomes]
rs73964973	1.00[AMR][1000 genomes]
rs73964974	1.00[AMR][1000 genomes]
rs73964975	1.00[AMR][1000 genomes]
rs73964977	1.00[AMR][1000 genomes]
rs73964979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144825600-144839600	Enhancers	Fetal Lung	lung
2	chr2:144826800-144839000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:144829200-144835600	Weak transcription	Osteobl	bone
4	chr2:144829800-144835800	Weak transcription	NHLF	lung
5	chr2:144831400-144835600	Weak transcription	Fetal Brain Male	brain
6	chr2:144831800-144836000	Weak transcription	Fetal Stomach	stomach
7	chr2:144832200-144843200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:144833600-144835200	Weak transcription	Ovary	ovary
9	chr2:144834200-144835800	Weak transcription	Psoas Muscle	Psoas
10	chr2:144834600-144837200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:144834800-144836200	Enhancers	Fetal Kidney	kidney
12	chr2:144835000-144837000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:144835000-144837400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:144835000-144837400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:144835000-144837800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:144835000-144839400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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