Variant report

Variant	rs41298322
Chromosome Location	chr5:126790093-126790094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126783703..126786133-chr5:126789006..126791339,2	K562	blood:

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

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

rs_ID	r²[population]
rs10519940	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743299	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11743942	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747741	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11749174	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684962	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763370	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17839692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003863	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860028	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35591368	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56914580	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60019013	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73783790	0.82[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:126778000-126790800	Strong transcription	Fetal Muscle Leg	muscle
5	chr5:126778000-126795400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:126781800-126794800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:126782600-126795200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:126783200-126794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:126783400-126795600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:126783800-126797200	Weak transcription	HSMM	muscle
11	chr5:126784400-126791400	Strong transcription	HSMMtube	muscle
12	chr5:126785200-126797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:126785400-126790400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:126785400-126794800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:126786000-126797600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:126786600-126790200	Strong transcription	Brain Hippocampus Middle	brain
17	chr5:126787400-126791400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:126787400-126793400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:126788200-126792400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:126788600-126790200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:126788800-126792400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:126788800-126797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:126789200-126791200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:126789400-126791400	Strong transcription	Brain Anterior Caudate	brain
25	chr5:126789400-126797000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:126789800-126797000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:126790000-126790400	Strong transcription	H1 Cell Line	embryonic stem cell

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