Variant report

Variant	rs73044999
Chromosome Location	chr19:38955213-38955214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:38955136-38955450	K562	blood:	n/a	n/a

Variant related genes	Relation type
RYR1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11880126	1.00[ASN][1000 genomes]
rs58273547	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59167126	1.00[ASN][1000 genomes]
rs61665287	0.89[EUR][1000 genomes]
rs66707127	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73030950	1.00[ASN][1000 genomes]
rs73030961	1.00[ASN][1000 genomes]
rs73030966	1.00[ASN][1000 genomes]
rs73046904	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv911664	chr19:38924814-39048163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv911666	chr19:38948356-39014184	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr19:38929800-38984400	Weak transcription	Psoas Muscle	Psoas
2	chr19:38930200-38978800	Weak transcription	Brain Substantia Nigra	brain
3	chr19:38934800-39005600	Strong transcription	Fetal Muscle Leg	muscle
4	chr19:38936200-38980800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:38936800-38963200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:38938600-38987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:38940000-39006400	Weak transcription	HSMM	muscle
8	chr19:38942200-38958200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr19:38943600-38961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:38944200-38959400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:38944600-38959000	Weak transcription	K562	blood
12	chr19:38945000-38955800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:38947600-38997400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:38947800-38961800	Strong transcription	HSMMtube	muscle
15	chr19:38950000-38957600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:38951200-38980400	Weak transcription	Right Atrium	heart
17	chr19:38952400-38956600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:38953000-38955800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:38953400-38955400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:38953400-38955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:38954000-38960000	Weak transcription	Brain Angular Gyrus	brain
22	chr19:38954800-38961800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr19:38955000-38955400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:38955200-38955400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr19:38955200-38955400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:38955200-38955600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:38955200-38955800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:38955200-38962000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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