Variant report

Variant	rs41298320
Chromosome Location	chr5:126785310-126785311
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:
2	chr5:126779204..126781991-chr5:126785291..126786826,2	K562	blood:

Variant related genes	Relation type
ENSG00000145794	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11241930	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11745840	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747639	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11950754	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11950816	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1587628	0.83[EUR][1000 genomes]
rs1592960	0.83[EUR][1000 genomes]
rs17164922	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17164923	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17164957	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17685202	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134252	0.83[EUR][1000 genomes]
rs2270933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55861432	0.83[EUR][1000 genomes]
rs57626860	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6595773	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883445	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6897163	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73331215	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7737871	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:31 , 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	chr5:126782200-126785400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:126782400-126789200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr5:126782600-126786600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:126782600-126788000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:126782600-126795200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126783200-126785400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:126783200-126785400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr5:126783200-126785600	Strong transcription	Brain Hippocampus Middle	brain
15	chr5:126783200-126786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:126783200-126788600	Strong transcription	Brain Anterior Caudate	brain
17	chr5:126783200-126789400	Strong transcription	Brain Substantia Nigra	brain
18	chr5:126783200-126794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:126783400-126785600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:126783400-126785600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:126783400-126788600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:126783400-126795600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:126783800-126797200	Weak transcription	HSMM	muscle
24	chr5:126784200-126786200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:126784400-126785400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:126784400-126791400	Strong transcription	HSMMtube	muscle
27	chr5:126784600-126785400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:126784600-126785400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr5:126784800-126785400	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr5:126785200-126787400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:126785200-126797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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