Variant report

Variant	rs782973
Chromosome Location	chr5:43194713-43194714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1050336	1.00[AMR][1000 genomes]
rs1389304	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs1690989	1.00[AMR][1000 genomes]
rs1690996	1.00[AMR][1000 genomes]
rs2444778	1.00[AMR][1000 genomes]
rs2453311	1.00[AMR][1000 genomes]
rs4549536	1.00[AMR][1000 genomes]
rs473870	1.00[AMR][1000 genomes]
rs481347	1.00[AMR][1000 genomes]
rs482224	1.00[AMR][1000 genomes]
rs4866731	1.00[AMR][1000 genomes]
rs500322	1.00[AMR][1000 genomes]
rs500993	1.00[AMR][1000 genomes]
rs514567	0.84[LWK][hapmap]
rs516939	1.00[AMR][1000 genomes]
rs534655	1.00[AMR][1000 genomes]
rs549343	1.00[AMR][1000 genomes]
rs550847	1.00[AMR][1000 genomes]
rs558935	1.00[AMR][1000 genomes]
rs566582	1.00[AMR][1000 genomes]
rs61546868	0.82[AFR][1000 genomes]
rs623083	1.00[AMR][1000 genomes]
rs6414901	1.00[AMR][1000 genomes]
rs661413	1.00[AMR][1000 genomes]
rs665790	1.00[AMR][1000 genomes]
rs666663	1.00[AMR][1000 genomes]
rs6863940	1.00[AMR][1000 genomes]
rs6888146	1.00[AMR][1000 genomes]
rs693466	1.00[AMR][1000 genomes]
rs7712183	1.00[AMR][1000 genomes]
rs7727600	1.00[AMR][1000 genomes]
rs7730565	1.00[AMR][1000 genomes]
rs782981	1.00[AMR][1000 genomes]
rs782982	1.00[AMR][1000 genomes]
rs782983	1.00[AMR][1000 genomes]
rs782986	1.00[AMR][1000 genomes]
rs803501	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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43191200-43194800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43191600-43194800	Active TSS	Brain Angular Gyrus	brain
3	chr5:43191800-43195000	Active TSS	Brain Substantia Nigra	brain
4	chr5:43194000-43195000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:43194000-43195000	Flanking Active TSS	Fetal Brain Female	brain
6	chr5:43194200-43195000	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr5:43194200-43195000	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr5:43194200-43197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:43194400-43194800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:43194400-43194800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr5:43194400-43194800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:43194400-43194800	Enhancers	Fetal Brain Male	brain
13	chr5:43194400-43194800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:43194400-43194800	Enhancers	NHDF-Ad	bronchial
15	chr5:43194400-43195000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr5:43194400-43195800	Enhancers	GM12878-XiMat	blood
17	chr5:43194400-43197200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:43194400-43197200	Weak transcription	HMEC	breast
19	chr5:43194400-43197400	Weak transcription	K562	blood
20	chr5:43194600-43194800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:43194600-43194800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:43194600-43195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:43194600-43195000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:43194600-43195000	Enhancers	Brain Germinal Matrix	brain
25	chr5:43194600-43195000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:43194600-43195200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:43194600-43196200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:43194600-43196400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:43194600-43197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:43194600-43197600	Weak transcription	NHEK	skin

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