Variant report

Variant	rs9747973
Chromosome Location	chr17:37905107-37905108
allele	C/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	chr17:37892523..37898235-chr17:37904182..37913977,22	MCF-7	breast:
2	chr17:37905061..37908397-chr17:37908549..37911938,4	MCF-7	breast:
3	chr17:37897334..37903790-chr17:37903988..37910787,11	K562	blood:
4	chr17:37787720..37791820-chr17:37904458..37906259,3	K562	blood:
5	chr17:37903978..37906952-chr17:37910372..37912419,2	K562	blood:
6	chr17:37893564..37896965-chr17:37905023..37908050,4	K562	blood:
7	chr17:37895465..37903504-chr17:37904751..37910787,10	K562	blood:
8	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141738	Chromatin interaction
ENSG00000131771	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10445308	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11658993	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12942330	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12944882	0.87[EUR][1000 genomes]
rs12946510	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2313430	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2941522	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2952140	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2952144	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3816470	0.87[EUR][1000 genomes]
rs4795395	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs907091	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907092	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9303277	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9909593	0.81[EUR][1000 genomes]
rs9916765	0.82[AMR][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	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9747973	GSDML	Cis_1M	lymphoblastoid	RTeQTL
rs9747973	IKZF3	cis	multi-tissue	Pritchard
rs9747973	ORMDL3	cis	multi-tissue	Pritchard
rs9747973	GSDML	cis	multi-tissue	Pritchard
rs9747973	GSDMB	cis	Whole Blood	GTEx
rs9747973	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs9747973	GSDMA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37897200-37909400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37897800-37906400	Weak transcription	Right Ventricle	heart
3	chr17:37897800-37910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:37898000-37905200	Strong transcription	Fetal Intestine Small	intestine
5	chr17:37898400-37906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:37899400-37906400	Weak transcription	Spleen	Spleen
7	chr17:37901200-37906200	Weak transcription	Stomach Mucosa	stomach
8	chr17:37901400-37906400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:37901600-37906400	Weak transcription	A549	lung
10	chr17:37901600-37908400	Weak transcription	Fetal Kidney	kidney
11	chr17:37902200-37906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:37902200-37906400	Weak transcription	Lung	lung
13	chr17:37902200-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:37902400-37906400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:37902600-37906400	Weak transcription	Hela-S3	cervix
16	chr17:37902800-37908200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr17:37903200-37906000	Weak transcription	HMEC	breast
18	chr17:37903200-37906400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:37903200-37909400	Weak transcription	HUVEC	blood vessel
20	chr17:37903400-37906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:37903400-37906400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:37903400-37909400	Weak transcription	Colonic Mucosa	Colon
23	chr17:37903400-37910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:37903600-37908000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:37903800-37908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:37904000-37906400	Weak transcription	Liver	Liver
27	chr17:37904000-37908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr17:37904000-37910000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:37904200-37906200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:37904200-37906200	Weak transcription	NHEK	skin
31	chr17:37904200-37906600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:37904200-37908200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:37904400-37905800	Weak transcription	Pancreas	Pancrea
34	chr17:37904400-37906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:37904400-37906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:37904400-37906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:37904400-37906400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:37904400-37906400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:37904400-37906400	Weak transcription	Esophagus	oesophagus
40	chr17:37904400-37906400	Weak transcription	Fetal Intestine Large	intestine
41	chr17:37904400-37906400	Weak transcription	Gastric	stomach
42	chr17:37904400-37906800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr17:37904400-37907400	Enhancers	Placenta	Placenta
44	chr17:37904400-37908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr17:37904600-37906400	Enhancers	HepG2	liver
46	chr17:37905000-37906000	Weak transcription	Fetal Heart	heart
47	chr17:37905000-37908800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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