Variant report

Variant	rs57249611
Chromosome Location	chr14:32257489-32257490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1430430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17098197	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4981882	1.00[EUR][1000 genomes]
rs60326994	1.00[EUR][1000 genomes]
rs61430952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253245	1.00[EUR][1000 genomes]
rs73257224	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259017	1.00[EUR][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	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS 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
3	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv524652	chr14:32241873-32267323	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv521631	chr14:32242747-32267323	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv976828	chr14:32257091-32272180	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32239600-32259800	Weak transcription	Left Ventricle	heart
3	chr14:32244400-32270200	Weak transcription	Ovary	ovary
4	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:32250800-32270200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:32251200-32272600	Weak transcription	Primary T cells from cord blood	blood
7	chr14:32251400-32261400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:32252200-32261200	Weak transcription	Primary B cells from cord blood	blood
9	chr14:32252600-32268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:32257400-32257600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:32257400-32257600	Enhancers	Pancreas	Pancrea
12	chr14:32257400-32257800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:32257400-32258000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr14:32257400-32258000	Enhancers	Gastric	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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