Variant report

Variant	rs60667221
Chromosome Location	chr17:38110390-38110391
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38082186..38086567-chr17:38107763..38110832,6	K562	blood:
2	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
3	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:
4	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
5	chr17:38082186..38083715-chr17:38108086..38110832,2	K562	blood:
6	chr17:38090703..38093615-chr17:38109038..38110854,2	K562	blood:
7	chr17:38109945..38111451-chr17:38115405..38117518,2	K562	blood:
8	chr17:38108595..38111573-chr17:38115257..38117518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264968	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000188895	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1007655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11869855	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1563103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17609240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2001476	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2313640	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28618095	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3848395	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3902024	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3931960	0.87[ASN][1000 genomes]
rs4134501	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4458030	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55860944	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56301252	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56396280	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62068174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068177	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62068178	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62068179	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62068180	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62068181	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068182	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62068183	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62068184	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6503527	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207600	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7209742	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218321	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218742	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7219080	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7223318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8065126	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8068522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8071050	0.87[ASN][1000 genomes]
rs8076474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8081437	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9889711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9889716	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9895948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3442992	chr17:38107951-38110799	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3410693	chr17:38108326-38110574	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs60667221	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs60667221	GSDMA	cis	Adipose Subcutaneous	GTEx
rs60667221	GSDMA	cis	Nerve Tibial	GTEx
rs60667221	GSDMA	cis	Thyroid	GTEx
rs60667221	GSDMA	cis	Artery Tibial	GTEx
rs60667221	GSDMA	cis	Artery Aorta	GTEx
rs60667221	GSDMA	cis	lung	GTEx
rs60667221	GSDMA	cis	Esophagus Muscularis	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38108400-38110800	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr17:38108800-38110400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:38108800-38110400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr17:38109000-38110400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:38109000-38110400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr17:38109000-38111200	Enhancers	Primary B cells from cord blood	blood
7	chr17:38109600-38110400	Flanking Active TSS	Dnd41	blood
8	chr17:38109800-38110400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:38109800-38110400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr17:38109800-38110400	Flanking Active TSS	Fetal Brain Female	brain
11	chr17:38110000-38110400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr17:38110000-38110400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:38110000-38110400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:38110000-38110400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:38110000-38110400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr17:38110000-38110600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:38110000-38115400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:38110000-38115400	Weak transcription	Osteobl	bone
19	chr17:38110000-38118800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:38110200-38110400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr17:38110200-38110400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr17:38110200-38110400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:38110200-38110400	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr17:38110200-38110400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr17:38110200-38110400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr17:38110200-38110400	Active TSS	Brain Germinal Matrix	brain
27	chr17:38110200-38110400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr17:38110200-38110600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:38110200-38110800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:38110200-38110800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:38110200-38110800	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:38110200-38110800	Enhancers	Fetal Brain Male	brain
33	chr17:38110200-38110800	Enhancers	Gastric	stomach
34	chr17:38110200-38110800	Enhancers	GM12878-XiMat	blood
35	chr17:38110200-38111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:38110200-38111200	Weak transcription	Fetal Thymus	thymus
37	chr17:38110200-38111200	Enhancers	HepG2	liver
38	chr17:38110200-38111400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:38110200-38111400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr17:38110200-38111400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:38110200-38111400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:38110200-38111400	Enhancers	K562	blood
43	chr17:38110200-38112200	Weak transcription	Fetal Muscle Leg	muscle
44	chr17:38110200-38115000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr17:38110200-38115000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr17:38110200-38115000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr17:38110200-38115000	Weak transcription	Colonic Mucosa	Colon
48	chr17:38110200-38115000	Weak transcription	NHEK	skin
49	chr17:38110200-38115200	Weak transcription	Primary T cells from cord blood	blood
50	chr17:38110200-38115200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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