Variant report

Variant	rs6869639
Chromosome Location	chr5:43195675-43195676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1001718	1.00[AMR][1000 genomes]
rs10070393	1.00[AMR][1000 genomes]
rs28659803	1.00[AMR][1000 genomes]
rs3849700	1.00[AMR][1000 genomes]
rs55730625	1.00[AMR][1000 genomes]
rs6859504	1.00[AMR][1000 genomes]
rs6860747	1.00[AMR][1000 genomes]
rs6864556	1.00[AMR][1000 genomes]
rs6875245	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6877778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6879509	1.00[AMR][1000 genomes]
rs6881357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6886169	1.00[AMR][1000 genomes]
rs6887110	1.00[AMR][1000 genomes]
rs6891509	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6895975	1.00[AMR][1000 genomes]
rs6897663	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73754532	1.00[AMR][1000 genomes]
rs747118	1.00[AMR][1000 genomes]
rs747119	1.00[AMR][1000 genomes]
rs7703982	1.00[AMR][1000 genomes]
rs7717370	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737740	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43194200-43197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:43194400-43195800	Enhancers	GM12878-XiMat	blood
3	chr5:43194400-43197200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:43194400-43197200	Weak transcription	HMEC	breast
5	chr5:43194400-43197400	Weak transcription	K562	blood
6	chr5:43194600-43196200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:43194600-43196400	Enhancers	Brain Hippocampus Middle	brain
8	chr5:43194600-43197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:43194600-43197600	Weak transcription	NHEK	skin
10	chr5:43194800-43195800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:43194800-43195800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:43195000-43195800	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:43195000-43196000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:43195000-43196000	Weak transcription	Brain Germinal Matrix	brain
15	chr5:43195000-43196200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:43195000-43203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:43195200-43195800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:43195400-43196000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:43195600-43196200	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr5:43195600-43196200	Active TSS	Fetal Brain Female	brain
22	chr5:43195600-43196400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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