Variant report

Variant	rs11749174
Chromosome Location	chr5:126768227-126768228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10519940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743165	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743299	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11743942	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11750372	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750401	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164929	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164938	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17839692	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35591368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41298322	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56914580	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60019013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73783790	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73783795	1.00[EUR][1000 genomes];1.00[ASN][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:34 , 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	chr5:126756000-126770400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:126759200-126774000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:126761000-126774800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:126761600-126774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:126761800-126776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
13	chr5:126762800-126769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
15	chr5:126763000-126770000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:126763200-126770600	Enhancers	Brain Substantia Nigra	brain
17	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:126764200-126768400	Weak transcription	Fetal Heart	heart
19	chr5:126764600-126770400	Weak transcription	HSMMtube	muscle
20	chr5:126765200-126769000	Weak transcription	Fetal Brain Female	brain
21	chr5:126765800-126782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126766000-126770200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:126766000-126770400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:126766200-126770400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:126767400-126768600	Enhancers	Brain Angular Gyrus	brain
26	chr5:126767600-126768400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:126767800-126769400	Enhancers	Brain Germinal Matrix	brain
28	chr5:126768000-126769200	Enhancers	Fetal Brain Male	brain
29	chr5:126768000-126773600	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:126768200-126769000	Weak transcription	Brain Anterior Caudate	brain
31	chr5:126768200-126770400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:126768200-126770400	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:126768200-126776200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:126768200-126782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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