Variant report

Variant	rs2560720
Chromosome Location	chr5:118881558-118881559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1143650	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2431545	0.85[AFR][1000 genomes]
rs2546206	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546207	1.00[AMR][1000 genomes]
rs2546208	1.00[AMR][1000 genomes]
rs2546209	1.00[AMR][1000 genomes]
rs2546212	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560719	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560722	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560724	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636960	1.00[AMR][1000 genomes]
rs2636965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636967	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636970	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678068	1.00[AMR][1000 genomes]
rs2678069	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2678072	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678073	1.00[AMR][1000 genomes]
rs2678075	0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678077	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2678082	1.00[AMR][1000 genomes]
rs2678083	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678093	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs34053410	1.00[AMR][1000 genomes]
rs35121430	1.00[AMR][1000 genomes]
rs6869575	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
3	chr5:118877400-118881600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118878600-118882000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:118878800-118881600	Weak transcription	Dnd41	blood
6	chr5:118878800-118881800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:118878800-118885600	Weak transcription	Fetal Stomach	stomach
8	chr5:118878800-118886800	Weak transcription	Aorta	Aorta
9	chr5:118878800-118888600	Weak transcription	Ovary	ovary
10	chr5:118879000-118884200	Weak transcription	Lung	lung
11	chr5:118879000-118884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:118879000-118885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:118879000-118885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
15	chr5:118879200-118881600	Weak transcription	Primary B cells from cord blood	blood
16	chr5:118879200-118882000	Weak transcription	Liver	Liver
17	chr5:118879200-118887600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:118879400-118883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:118881400-118882600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:118881400-118890000	Weak transcription	Brain Angular Gyrus	brain

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