Variant report

Variant	rs73783793
Chromosome Location	chr5:126764575-126764576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126764500..126767377-chr5:126777368..126779276,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2108889	1.00[AMR][1000 genomes]
rs55857193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408687	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57304460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58622488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168209	1.00[AMR][1000 genomes]
rs60007347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60963225	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6595772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6860585	0.87[AFR][1000 genomes]
rs6868588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783767	1.00[AMR][1000 genomes]
rs73783787	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783789	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786110	1.00[AMR][1000 genomes]
rs7703677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:126755400-126774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:126756000-126768000	Weak transcription	Fetal Brain Male	brain
6	chr5:126756000-126770400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:126759200-126774000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:126760600-126766200	Enhancers	Brain Hippocampus Middle	brain
10	chr5:126761000-126774800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:126761200-126764800	Weak transcription	HSMM	muscle
13	chr5:126761600-126774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:126761800-126776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
16	chr5:126762800-126764600	Strong transcription	HSMMtube	muscle
17	chr5:126762800-126769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
19	chr5:126763000-126770000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:126763200-126766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:126763200-126766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:126763200-126770600	Enhancers	Brain Substantia Nigra	brain
23	chr5:126763400-126765800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:126763400-126765800	Enhancers	Brain Anterior Caudate	brain
25	chr5:126763400-126766200	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:126763600-126764600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr5:126763800-126766200	Enhancers	Brain Angular Gyrus	brain
29	chr5:126764000-126764600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:126764000-126764800	Enhancers	Brain Germinal Matrix	brain
31	chr5:126764000-126764800	Weak transcription	Fetal Intestine Large	intestine
32	chr5:126764000-126765000	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:126764000-126765200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:126764000-126765200	Enhancers	Fetal Intestine Small	intestine
35	chr5:126764000-126767000	Enhancers	Stomach Mucosa	stomach
36	chr5:126764200-126764600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:126764200-126765600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:126764200-126765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:126764200-126766400	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:126764200-126768400	Weak transcription	Fetal Heart	heart
41	chr5:126764400-126765000	Weak transcription	Fetal Brain Female	brain
42	chr5:126764400-126765200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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