Variant report

Variant	rs8087266
Chromosome Location	chr18:11688979-11688980
allele	A/G
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	YY1	chr18:11688960-11689311	HCT-116	colon:	n/a	n/a
2	MAZ	chr18:11688951-11689687	IMR90	lung:	n/a	n/a
3	ELF1	chr18:11688975-11689296	HepG2	liver:	n/a	n/a
4	POLR2A	chr18:11688884-11690280	H1-neurons	neurons:	n/a	n/a
5	MBD4	chr18:11688901-11689252	HepG2	liver:	n/a	n/a
6	RFX5	chr18:11688943-11689358	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr18:11688956-11689289	A549	lung:	n/a	chr18:11689186-11689193
8	REST	chr18:11688977-11689245	PFSK-1	brain:	n/a	chr18:11689063-11689072 chr18:11689034-11689048
9	RAD21	chr18:11688932-11689397	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr18:11688852-11689378	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF7	chr18:11688925-11689339	H1-hESC	embryonic stem cell:	n/a	n/a
12	EP300	chr18:11688873-11689328	ECC-1	luminal epithelium:	n/a	chr18:11689218-11689227
13	CBX3	chr18:11688887-11689477	HCT-116	colon:	n/a	n/a
14	MAX	chr18:11688940-11690165	ECC-1	luminal epithelium:	n/a	n/a
15	MAFK	chr18:11688926-11689393	IMR90	lung:	n/a	n/a
16	CTCF	chr18:11688920-11689070	NHEK	skin:	n/a	chr18:11689031-11689044
17	NFIC	chr18:11688886-11689325	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr18:11688933-11689305	HepG2	liver:	n/a	n/a
19	ZNF143	chr18:11688918-11689344	Hela-S3	cervix:	n/a	n/a
20	TEAD4	chr18:11688889-11689374	H1-hESC	embryonic stem cell:	n/a	n/a
21	TCF12	chr18:11688849-11689352	H1-hESC	embryonic stem cell:	n/a	chr18:11689186-11689193
22	TCF12	chr18:11688927-11689319	GM12878	blood:	n/a	chr18:11689186-11689193
23	YY1	chr18:11688929-11689395	SK-N-SH	brain:	n/a	n/a
24	GABPA	chr18:11688908-11689336	H1-hESC	embryonic stem cell:	n/a	n/a
25	BCL3	chr18:11688898-11689396	A549	lung:	n/a	chr18:11689212-11689225
26	YY1	chr18:11688943-11689396	GM12878	blood:	n/a	chr18:11689385-11689396
27	ATF2	chr18:11688949-11689352	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr18:11688716-11689510	GM12878	blood:	n/a	n/a
29	JUND	chr18:11688951-11689318	A549	lung:	n/a	n/a
30	SIN3A	chr18:11688932-11690333	H1-hESC	embryonic stem cell:	n/a	chr18:11689385-11689396 chr18:11689037-11689046
31	SRF	chr18:11688900-11689310	GM12878	blood:	n/a	chr18:11689240-11689250
32	CTBP2	chr18:11688927-11690111	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr18:11688929-11689329	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr18:11688958-11689306	H1-hESC	embryonic stem cell:	n/a	n/a
35	HDAC2	chr18:11688932-11689274	HepG2	liver:	n/a	chr18:11689121-11689130
36	SRF	chr18:11688953-11689390	ECC-1	luminal epithelium:	n/a	chr18:11689240-11689250
37	YY1	chr18:11688907-11689342	GM12878	blood:	n/a	n/a
38	YY1	chr18:11688913-11689406	ECC-1	luminal epithelium:	n/a	chr18:11689385-11689396
39	RUNX3	chr18:11688936-11689311	GM12878	blood:	n/a	n/a
40	FOXP2	chr18:11688977-11689306	SK-N-MC	brain:	n/a	n/a
41	MAFK	chr18:11688928-11689364	K562	blood:	n/a	n/a
42	YY1	chr18:11688934-11689355	GM12891	blood:	n/a	n/a
43	SPI1	chr18:11688937-11689266	HL-60	blood:	n/a	n/a
44	YY1	chr18:11688975-11689483	SK-N-SH	brain:	n/a	chr18:11689385-11689396
45	FOXA1	chr18:11688943-11689239	T-47D	breast:	n/a	n/a
46	YY1	chr18:11688974-11689378	H1-hESC	embryonic stem cell:	n/a	n/a
47	KAP1	chr18:11688858-11689453	HEK293	kidney:	n/a	n/a
48	MAX	chr18:11688928-11690108	HepG2	liver:	n/a	n/a
49	YY1	chr18:11688942-11689476	HepG2	liver:	n/a	chr18:11689385-11689396
50	TCF7L2	chr18:11688639-11689247	HEK293	kidney:	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 chr18:11688991-11689007 chr18:11688992-11689006

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:11688972-11689022	HMEC	breast:	n/a
2	chr18:11688972-11689022	GM12892	blood:	n/a
3	chr18:11688972-11689022	GM19239	blood:	n/a
4	chr18:11688972-11689022	SK-N-SH_RA	brain:	n/a
5	chr18:11688972-11689022	AG10803	skin:	n/a
6	chr18:11688972-11689022	HEEpiC	esophagus:	n/a
7	chr18:11688972-11689022	HUVEC	blood vessel:	n/a
8	chr18:11688972-11689022	HPAEpiC	pulmonary alveolar:	n/a
9	chr18:11688972-11689022	HEK293	kidney:	embryo
10	chr18:11688972-11689022	AoSMC	blood vessel:	n/a
11	chr18:11688972-11689022	HL-60	blood:	n/a
12	chr18:11688972-11689022	HepG2	liver:	n/a
13	chr18:11688972-11689022	HRPEpiC	eye:	n/a
14	chr18:11688972-11689022	Caco-2	colon:	n/a
15	chr18:11688972-11689022	IMR90	lung:	fetal
16	chr18:11688972-11689022	ovcar-3	ovarian:	n/a
17	chr18:11688972-11689022	AG04450	lung:	fetal
18	chr18:11688972-11689022	PFSK-1	brain:	n/a
19	chr18:11688972-11689022	Hepatocyte	liver:	n/a
20	chr18:11688972-11689022	CMK	blood:	n/a
21	chr18:11688972-11689022	HIPEpiC	eye:	n/a
22	chr18:11688972-11689022	HCM	heart:	n/a
23	chr18:11688972-11689022	RPTEC	kidney:	n/a
24	chr18:11688972-11689022	BJ	skin:	n/a
25	chr18:11688972-11689022	MCF10A-Er-Src	breast:	n/a
26	chr18:11688972-11689022	PANC-1	pancreas:	n/a
27	chr18:11688972-11689022	HCT-116	colon:	n/a
28	chr18:11688972-11689022	AG04449	skin:	fetal
29	chr18:11688972-11689022	SAEC	small airway:	n/a
30	chr18:11688972-11689022	AG09319	gingival:	n/a
31	chr18:11688972-11689022	NHBE	bronchial:	n/a
32	chr18:11688972-11689022	NHDF-neo	bronchial:	n/a
33	chr18:11688972-11689022	SK-N-MC	brain:	n/a
34	chr18:11688972-11689022	HNPCEpiC	eye:	n/a
35	chr18:11688972-11689022	BE2_C	brain:	n/a
36	chr18:11688972-11689022	SK-N-SH	brain:	n/a
37	chr18:11688972-11689022	HAEpiC	amniotic membrane:	n/a
38	chr18:11688972-11689022	Jurkat	blood:	n/a
39	chr18:11688972-11689022	PrEC	prostate:	n/a
40	chr18:11688972-11689022	H1-hESC	embryonic stem cell:	embryo
41	chr18:11688972-11689022	K562	blood:	n/a
42	chr18:11688972-11689022	A549	lung:	n/a
43	chr18:11688972-11689022	HRCEpiC	kidney:	n/a
44	chr18:11688972-11689022	HCPEpiC	choroid plexus:	n/a
45	chr18:11688972-11689022	NT2-D1	testis:	n/a
46	chr18:11688972-11689022	AG09309	skin:	n/a
47	chr18:11688972-11689022	HRE	kidney:	n/a
48	chr18:11688972-11689022	HCF	heart:	n/a
49	chr18:11688972-11689022	GM12891	blood:	n/a
50	chr18:11688972-11689022	NH-A	brain:	n/a

Variant related genes	Relation type
GNAL	TF binding region
GNAL	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1013459	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11872939	1.00[CHD][hapmap]
rs1477484	1.00[CHD][hapmap]
rs16976596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16976628	1.00[CHD][hapmap]
rs17515304	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17515325	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1863122	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035194	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035195	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28620345	0.92[ASN][1000 genomes]
rs4239300	1.00[JPT][hapmap]
rs57892223	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61124787	0.84[ASN][1000 genomes]
rs61670374	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505670	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71367576	0.92[ASN][1000 genomes]
rs7236433	0.84[ASN][1000 genomes]
rs7237466	0.85[ASN][1000 genomes]
rs7237945	0.85[ASN][1000 genomes]
rs72881064	0.84[ASN][1000 genomes]
rs8085488	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8090096	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096345	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098596	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099016	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099153	1.00[CHD][hapmap]
rs8099179	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099342	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099486	0.92[ASN][1000 genomes]
rs9303742	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9303743	1.00[CHD][hapmap]
rs9675415	0.85[AMR][1000 genomes]
rs9676233	1.00[CHD][hapmap]
rs9946455	1.00[CHD][hapmap]
rs9966615	0.84[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8087266	AFG3L2	cis	parietal	SCAN
rs8087266	GNAL	cis	lesional skin	skin_eQTL
rs8087266	TUBB6	cis	parietal	SCAN
rs8087266	MPPE1	cis	uninvolved skin	skin_eQTL
rs8087266	MPPE1	cis	normal skin	skin_eQTL
rs8087266	MPPE1	cis	lesional skin	skin_eQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11688400-11689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:11688400-11689000	Flanking Active TSS	Hela-S3	cervix
3	chr18:11688400-11689400	Active TSS	Fetal Brain Female	brain
4	chr18:11688600-11689000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr18:11688600-11689000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:11688600-11689000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr18:11688600-11689000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:11688600-11689000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr18:11688600-11689000	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr18:11688600-11689000	Bivalent Enhancer	Fetal Lung	lung
11	chr18:11688600-11689000	Bivalent Enhancer	Fetal Stomach	stomach
12	chr18:11688600-11689200	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr18:11688600-11689200	Bivalent Enhancer	Fetal Thymus	thymus
14	chr18:11688600-11689200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr18:11688600-11690200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr18:11688600-11690200	Active TSS	Rectal Smooth Muscle	rectum
17	chr18:11688600-11690400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr18:11688600-11690400	Active TSS	A549	lung
19	chr18:11688600-11690600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr18:11688600-11690600	Active TSS	HMEC	breast
21	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:11688800-11689000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr18:11688800-11689000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:11688800-11689000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr18:11688800-11689000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr18:11688800-11689000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
32	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
33	chr18:11688800-11689000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Liver	Liver
36	chr18:11688800-11689000	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr18:11688800-11689000	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr18:11688800-11689000	Enhancers	Esophagus	oesophagus
40	chr18:11688800-11689000	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
43	chr18:11688800-11689000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
44	chr18:11688800-11689000	Enhancers	Gastric	stomach
45	chr18:11688800-11689000	Enhancers	Psoas Muscle	Psoas
46	chr18:11688800-11689000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr18:11688800-11689000	Bivalent/Poised TSS	Thymus	Thymus
48	chr18:11688800-11689000	Bivalent Enhancer	HSMMtube	muscle
49	chr18:11688800-11689000	Flanking Bivalent TSS/Enh	NH-A	brain
50	chr18:11688800-11689000	Flanking Active TSS	NHEK	skin

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