Variant report

Variant	rs9303742
Chromosome Location	chr18:11689522-11689523
allele	C/T
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	MAZ	chr18:11688951-11689687	IMR90	lung:	n/a	n/a
2	POLR2A	chr18:11688884-11690280	H1-neurons	neurons:	n/a	n/a
3	E2F6	chr18:11689026-11690136	H1-hESC	embryonic stem cell:	n/a	chr18:11690080-11690089 chr18:11689451-11689463 chr18:11689217-11689227 chr18:11689546-11689561 chr18:11689487-11689499 chr18:11689534-11689543 chr18:11690084-11690093 chr18:11689538-11689548
4	MAX	chr18:11688940-11690165	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr18:11689116-11689733	ECC-1	luminal epithelium:	n/a	n/a
6	EGR1	chr18:11689416-11689666	K562	blood:	n/a	chr18:11689552-11689562 chr18:11689538-11689551 chr18:11689538-11689551 chr18:11689538-11689548 chr18:11689539-11689549 chr18:11689539-11689548 chr18:11689538-11689551
7	ZBTB7A	chr18:11689014-11689657	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr18:11689513-11690138	A549	lung:	n/a	n/a
9	POLR2A	chr18:11689067-11689638	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr18:11688932-11690333	H1-hESC	embryonic stem cell:	n/a	chr18:11689385-11689396 chr18:11689037-11689046
11	MAX	chr18:11688986-11690289	Hela-S3	cervix:	n/a	n/a
12	CTBP2	chr18:11688927-11690111	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr18:11688928-11690108	HepG2	liver:	n/a	n/a
14	MAZ	chr18:11688981-11690003	Hela-S3	cervix:	n/a	n/a
15	E2F6	chr18:11689431-11689596	K562	blood:	n/a	chr18:11689451-11689463 chr18:11689546-11689561 chr18:11689487-11689499 chr18:11689534-11689543 chr18:11689538-11689548
16	HA-E2F1	chr18:11689155-11690171	Hela-S3	cervix:	n/a	chr18:11690080-11690089 chr18:11689451-11689463 chr18:11689217-11689227 chr18:11689546-11689561 chr18:11689487-11689499 chr18:11689534-11689543 chr18:11689451-11689462 chr18:11690084-11690093 chr18:11689487-11689498 chr18:11689538-11689548
17	MAX	chr18:11688773-11690197	A549	lung:	n/a	n/a
18	MAX	chr18:11688831-11690208	HCT-116	colon:	n/a	n/a
19	E2F6	chr18:11689491-11690092	A549	lung:	n/a	chr18:11690080-11690089 chr18:11689546-11689561 chr18:11689534-11689543 chr18:11689538-11689548
20	POLR2A	chr18:11689485-11689840	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr18:11688921-11690125	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr18:11689476-11690148	HCT-116	colon:	n/a	n/a
23	RCOR1	chr18:11688783-11690012	IMR90	lung:	n/a	n/a
24	REST	chr18:11688730-11689621	H1-neurons	neurons:	n/a	chr18:11689063-11689072 chr18:11689034-11689048
25	HCFC1	chr18:11688746-11690468	Hela-S3	cervix:	n/a	n/a
26	MAX	chr18:11689467-11690131	HepG2	liver:	n/a	n/a
27	TCF7L2	chr18:11688651-11690423	HCT-116	colon:	n/a	chr18:11688991-11689007 chr18:11688803-11688819 chr18:11688805-11688815 chr18:11688804-11688818 chr18:11688994-11689003 chr18:11688806-11688815 chr18:11688803-11688819 chr18:11688993-11689003 chr18:11690343-11690352 chr18:11688991-11689007 chr18:11688992-11689006
28	FOXA2	chr18:11688872-11689561	A549	lung:	n/a	n/a
29	POLR2A	chr18:11689119-11690232	A549	lung:	n/a	n/a
30	POLR2A	chr18:11689133-11689592	Hela-S3	cervix:	n/a	n/a
31	E2F6	chr18:11688898-11690144	H1-hESC	embryonic stem cell:	n/a	chr18:11690080-11690089 chr18:11689451-11689463 chr18:11689217-11689227 chr18:11689546-11689561 chr18:11689487-11689499 chr18:11689534-11689543 chr18:11690084-11690093 chr18:11689538-11689548
32	MAX	chr18:11689475-11690061	ECC-1	luminal epithelium:	n/a	n/a
33	GABPA	chr18:11689216-11689671	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr18:11688989-11689726	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr18:11689083-11689646	A549	lung:	n/a	n/a
36	ZNF263	chr18:11688919-11690426	HEK293-T-REx	kidney:	n/a	n/a
37	E2F1	chr18:11689177-11689687	Hela-S3	cervix:	n/a	chr18:11689451-11689463 chr18:11689217-11689227 chr18:11689546-11689561 chr18:11689487-11689499 chr18:11689534-11689543 chr18:11689451-11689462 chr18:11689487-11689498 chr18:11689538-11689548
38	POLR2A	chr18:11689132-11689618	A549	lung:	n/a	n/a
39	MAX	chr18:11688873-11690134	H1-hESC	embryonic stem cell:	n/a	n/a
40	E2F4	chr18:11688969-11689595	MCF10A-Er-Src	breast:	n/a	chr18:11689451-11689463 chr18:11689217-11689227 chr18:11689546-11689561 chr18:11689487-11689499 chr18:11689534-11689543 chr18:11689538-11689548
41	GABPA	chr18:11689338-11689991	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GNAL	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1013459	0.92[ASN][1000 genomes]
rs16976596	1.00[ASN][1000 genomes]
rs17515304	0.92[ASN][1000 genomes]
rs17515325	0.92[ASN][1000 genomes]
rs1863122	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2035194	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2035195	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28620345	1.00[ASN][1000 genomes]
rs57892223	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61124787	0.92[ASN][1000 genomes]
rs61670374	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505670	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71367576	0.84[ASN][1000 genomes]
rs7236433	0.92[ASN][1000 genomes]
rs7237466	0.92[ASN][1000 genomes]
rs7237945	0.92[ASN][1000 genomes]
rs72881064	0.92[ASN][1000 genomes]
rs8085488	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8087266	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8087897	0.92[ASN][1000 genomes]
rs8090096	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8096345	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8098596	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8099016	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8099179	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8099342	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8099486	0.84[ASN][1000 genomes]
rs9675415	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9966615	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv518207	chr18:11670845-11695676	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv516128	chr18:11683431-11695676	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9303742	GNAL	cis	Artery Tibial	GTEx
rs9303742	GNAL	cis	Esophagus Mucosa	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11688600-11690200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr18:11688600-11690200	Active TSS	Rectal Smooth Muscle	rectum
3	chr18:11688600-11690400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:11688600-11690400	Active TSS	A549	lung
5	chr18:11688600-11690600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr18:11688600-11690600	Active TSS	HMEC	breast
7	chr18:11688800-11689600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:11688800-11690000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
9	chr18:11688800-11690200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:11688800-11690200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr18:11688800-11690200	Active TSS	Brain Substantia Nigra	brain
12	chr18:11688800-11690200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
13	chr18:11688800-11690400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:11688800-11690400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:11688800-11690400	Active TSS	Aorta	Aorta
21	chr18:11688800-11690400	Enhancers	Fetal Heart	heart
22	chr18:11688800-11690400	Active TSS	Right Atrium	heart
23	chr18:11688800-11690400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr18:11688800-11690600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr18:11688800-11690600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:11688800-11690600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr18:11689000-11689600	Active TSS	Brain Hippocampus Middle	brain
28	chr18:11689000-11689600	Bivalent/Poised TSS	Left Ventricle	heart
29	chr18:11689000-11689600	Active TSS	Pancreas	Pancrea
30	chr18:11689000-11689600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr18:11689000-11689600	Bivalent/Poised TSS	HUVEC	blood vessel
32	chr18:11689000-11689800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:11689000-11689800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:11689000-11689800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:11689000-11690000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:11689000-11690000	Flanking Active TSS	Liver	Liver
37	chr18:11689000-11690000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr18:11689000-11690000	Bivalent/Poised TSS	HSMMtube	muscle
39	chr18:11689000-11690200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:11689000-11690200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr18:11689000-11690200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr18:11689000-11690200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr18:11689000-11690200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:11689000-11690200	Active TSS	Brain Angular Gyrus	brain
45	chr18:11689000-11690200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr18:11689000-11690200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr18:11689000-11690200	Active TSS	Gastric	stomach
48	chr18:11689000-11690200	Bivalent/Poised TSS	HepG2	liver
49	chr18:11689000-11690200	Active TSS	NHEK	skin
50	chr18:11689000-11690400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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