Variant report

Variant	rs12327672
Chromosome Location	chr19:39050479-39050480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10469270	0.88[EUR][1000 genomes]
rs2116869	0.86[EUR][1000 genomes]
rs2228071	0.85[EUR][1000 genomes]
rs2229145	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2229147	1.00[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2234709	0.85[EUR][1000 genomes]
rs2960320	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2960354	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs35959206	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45555835	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61361030	0.95[EUR][1000 genomes]
rs73544610	0.91[EUR][1000 genomes]
rs73544616	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1058902	chr19:39025940-39078574	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1064490	chr19:39029788-39078574	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12327672	RYR1	cis	multi-tissue	Pritchard

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39026000-39052400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39029000-39051600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr19:39030000-39054600	Strong transcription	Fetal Muscle Leg	muscle
5	chr19:39030200-39055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:39034600-39051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:39035200-39052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:39035200-39066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:39035600-39050800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:39035600-39051800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:39035600-39052000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:39035600-39052000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:39035600-39052000	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:39035800-39051800	Weak transcription	Brain Anterior Caudate	brain
15	chr19:39036000-39051800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
17	chr19:39037200-39051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:39039200-39051800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:39039800-39052200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:39040000-39054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:39041400-39050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:39044800-39051800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr19:39045000-39055600	Weak transcription	Right Atrium	heart
24	chr19:39047200-39052400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:39048400-39050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:39048400-39050600	Enhancers	GM12878-XiMat	blood
27	chr19:39048400-39052400	Weak transcription	Brain Angular Gyrus	brain
28	chr19:39049600-39051200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:39049600-39053000	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:39049800-39050600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr19:39049800-39052000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr19:39049800-39052200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:39049800-39052800	Enhancers	HMEC	breast
34	chr19:39049800-39054600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr19:39050000-39051000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr19:39050000-39051000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:39050000-39051200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:39050000-39051400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:39050000-39053200	Enhancers	NHEK	skin
40	chr19:39050200-39050800	Enhancers	A549	lung
41	chr19:39050200-39051000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:39050200-39051800	Weak transcription	Esophagus	oesophagus
43	chr19:39050200-39052200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr19:39050400-39050600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:39050400-39051000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:39050400-39051000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr19:39050400-39051200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:39050400-39051200	Strong transcription	HSMMtube	muscle
49	chr19:39050400-39052400	Weak transcription	Brain Inferior Temporal Lobe	brain

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