Variant report

Variant	rs2960321
Chromosome Location	chr19:39048163-39048164
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39040122..39042064-chr19:39047270..39049088,2	K562	blood:
2	chr19:39047616..39050386-chr19:39061132..39062672,2	K562	blood:
3	chr19:39047541..39048544-chr19:39124984..39125862,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12973045	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974674	0.81[AFR][1000 genomes]
rs12981340	0.98[ASN][1000 genomes]
rs2071090	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2459631	0.96[YRI][hapmap]
rs2960317	0.83[ASW][hapmap]
rs2960318	1.00[ASN][1000 genomes]
rs2960349	0.84[YRI][hapmap]
rs2960350	0.88[ASW][hapmap];0.92[YRI][hapmap]
rs2960351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508806	0.97[ASN][1000 genomes]
rs7245673	0.80[YRI][hapmap]
rs7246912	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7249859	0.83[ASW][hapmap]
rs7250800	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	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
9	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
10	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
11	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
12	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
rs2960321	RYR1	cis	multi-tissue	Pritchard

Chromatin state (count:51 , 50 per page) page: 1 2

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	chr19:39040000-39050000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:39040000-39054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:39041400-39050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:39042400-39048200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:39044800-39051800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr19:39045000-39055600	Weak transcription	Right Atrium	heart
26	chr19:39045200-39050400	Weak transcription	HSMMtube	muscle
27	chr19:39046400-39048400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:39047200-39048400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:39047200-39048400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr19:39047200-39048400	Flanking Active TSS	GM12878-XiMat	blood
31	chr19:39047200-39048400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr19:39047200-39048600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr19:39047200-39049000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:39047200-39049000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:39047200-39050400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:39047200-39052400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:39047400-39048200	Enhancers	A549	lung
38	chr19:39047400-39048200	Enhancers	NHEK	skin
39	chr19:39047400-39048400	Enhancers	Primary B cells from peripheral blood	blood
40	chr19:39047400-39048400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:39047400-39048400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr19:39047400-39048400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:39047400-39048800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr19:39047800-39048200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr19:39047800-39048200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr19:39047800-39048200	Flanking Active TSS	K562	blood
47	chr19:39047800-39048400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr19:39048000-39048200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:39048000-39048200	Enhancers	HMEC	breast
50	chr19:39048000-39048400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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