Variant report

Variant	rs1895689
Chromosome Location	chr18:11752943-11752944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr18:11752385-11752968	H1-hESC	embryonic stem cell:	n/a	n/a
2	NR3C1	chr18:11752625-11753014	A549	lung:	n/a	n/a
3	POLR2A	chr18:11751934-11753335	H1-neurons	neurons:	n/a	n/a
4	E2F6	chr18:11752172-11752973	H1-hESC	embryonic stem cell:	n/a	n/a
5	NR3C1	chr18:11752660-11753051	A549	lung:	n/a	n/a
6	POLR2A	chr18:11752670-11753056	H1-neurons	neurons:	n/a	n/a
7	NR3C1	chr18:11752660-11752949	A549	lung:	n/a	n/a
8	NR3C1	chr18:11752660-11752943	A549	lung:	n/a	n/a
9	UBTF	chr18:11752869-11752993	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:11752904-11752954	HCT-116	colon:	n/a
2	chr18:11752904-11752954	HIPEpiC	eye:	n/a
3	chr18:11752904-11752954	MCF10A-Er-Src	breast:	n/a
4	chr18:11752904-11752954	AG04449	skin:	fetal
5	chr18:11752904-11752954	A549	lung:	n/a
6	chr18:11752904-11752954	HRE	kidney:	n/a
7	chr18:11752904-11752954	ECC-1	luminal epithelium:	n/a
8	chr18:11752904-11752954	MCF-7	breast:	n/a
9	chr18:11752904-11752954	HepG2	liver:	n/a
10	chr18:11752904-11752954	CMK	blood:	n/a
11	chr18:11752904-11752954	NH-A	brain:	n/a
12	chr18:11752904-11752954	HNPCEpiC	eye:	n/a
13	chr18:11752904-11752954	SKMC	muscle:	n/a
14	chr18:11752904-11752954	HPAEpiC	pulmonary alveolar:	n/a
15	chr18:11752904-11752954	BE2_C	brain:	n/a
16	chr18:11752904-11752954	NHBE	bronchial:	n/a
17	chr18:11752904-11752954	Hepatocyte	liver:	n/a
18	chr18:11752904-11752954	Jurkat	blood:	n/a
19	chr18:11752904-11752954	NB4	blood:	n/a
20	chr18:11752904-11752954	AG10803	skin:	n/a
21	chr18:11752904-11752954	SK-N-SH	brain:	n/a
22	chr18:11752904-11752954	PFSK-1	brain:	n/a
23	chr18:11752904-11752954	HUVEC	blood vessel:	n/a
24	chr18:11752904-11752954	Caco-2	colon:	n/a
25	chr18:11752904-11752954	HCM	heart:	n/a
26	chr18:11752904-11752954	IMR90	lung:	fetal
27	chr18:11752904-11752954	BJ	skin:	n/a
28	chr18:11752904-11752954	LNCaP	prostate:	n/a
29	chr18:11752904-11752954	NT2-D1	testis:	n/a
30	chr18:11752904-11752954	GM06990	blood:	n/a
31	chr18:11752904-11752954	PANC-1	pancreas:	n/a
32	chr18:11752904-11752954	AG04450	lung:	fetal
33	chr18:11752904-11752954	Hela-S3	cervix:	n/a
34	chr18:11752904-11752954	U87	brain:	n/a
35	chr18:11752904-11752954	PrEC	prostate:	n/a
36	chr18:11752904-11752954	HCPEpiC	choroid plexus:	n/a
37	chr18:11752904-11752954	ProgFib	skin:	n/a
38	chr18:11752904-11752954	HAEpiC	amniotic membrane:	n/a
39	chr18:11752904-11752954	HMEC	breast:	n/a
40	chr18:11752904-11752954	K562	blood:	n/a
41	chr18:11752904-11752954	GM12878	blood:	n/a
42	chr18:11752904-11752954	AoSMC	blood vessel:	n/a
43	chr18:11752904-11752954	H1-hESC	embryonic stem cell:	embryo
44	chr18:11752904-11752954	AG09309	skin:	n/a
45	chr18:11752904-11752954	RPTEC	kidney:	n/a
46	chr18:11752904-11752954	SK-N-SH_RA	brain:	n/a
47	chr18:11752904-11752954	GM12891	blood:	n/a
48	chr18:11752904-11752954	HRCEpiC	kidney:	n/a
49	chr18:11752904-11752954	AG09319	gingival:	n/a
50	chr18:11752904-11752954	SAEC	small airway:	n/a

No data

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

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10468681	0.82[CHB][hapmap]
rs11873821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12965108	0.81[CHB][hapmap]
rs12965256	0.81[CHB][hapmap]
rs1364632	0.81[CHB][hapmap]
rs16976632	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap]
rs16976671	0.80[CHB][hapmap]
rs2052660	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2052661	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2113738	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2113739	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2161961	0.82[CHB][hapmap]
rs28415243	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2866279	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4625786	0.82[CEU][hapmap]
rs58518871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505671	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505674	0.92[ASN][1000 genomes]
rs7227416	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7233178	0.90[ASN][1000 genomes]
rs7240632	0.84[CHB][hapmap]
rs7359728	0.94[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8084370	0.87[AFR][1000 genomes]
rs8087001	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8087789	0.85[CHB][hapmap]
rs8090320	0.80[CHB][hapmap]
rs8090628	0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.93[ASN][1000 genomes]
rs8091359	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs8095592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303749	0.81[CHB][hapmap]
rs9947295	0.85[MKK][hapmap]
rs9949045	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9951752	0.80[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9954406	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9957006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9957311	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1895689	CHMP1B	cis	lymphoblastoid	seeQTL
rs1895689	C18orf1	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11751000-11753200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr18:11751200-11753000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
3	chr18:11751200-11753200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr18:11751200-11753200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr18:11751200-11753200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr18:11751400-11753000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr18:11751400-11753000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:11751400-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:11751400-11753000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:11751400-11753200	Enhancers	Liver	Liver
11	chr18:11751600-11753000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr18:11751600-11753000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:11751600-11753000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr18:11751600-11753000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr18:11751600-11753000	Bivalent/Poised TSS	Ovary	ovary
16	chr18:11751600-11753000	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr18:11751600-11753000	Active TSS	Rectal Smooth Muscle	rectum
18	chr18:11751600-11753000	Active TSS	Right Atrium	heart
19	chr18:11751600-11753200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr18:11751600-11753200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr18:11751600-11756200	Active TSS	Brain Anterior Caudate	brain
22	chr18:11751800-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:11751800-11753000	Active TSS	Gastric	stomach
24	chr18:11752000-11753000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr18:11752000-11753000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr18:11752000-11753000	Flanking Active TSS	Pancreas	Pancrea
27	chr18:11752000-11753200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:11752000-11753200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr18:11752200-11753000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:11752200-11753000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:11752200-11753000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:11752200-11753000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr18:11752200-11753000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:11752200-11753000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:11752200-11753000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:11752200-11753000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr18:11752200-11753000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr18:11752200-11753000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr18:11752400-11753000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:11752400-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr18:11752400-11753000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:11752400-11753000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr18:11752400-11753000	Bivalent/Poised TSS	Fetal Lung	lung
44	chr18:11752400-11753000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr18:11752400-11753000	Bivalent Enhancer	Placenta	Placenta
46	chr18:11752400-11753000	Active TSS	A549	lung
47	chr18:11752400-11753000	Bivalent/Poised TSS	NHEK	skin
48	chr18:11752400-11753200	Active TSS	Brain Angular Gyrus	brain
49	chr18:11752400-11754800	Active TSS	Brain Hippocampus Middle	brain
50	chr18:11752600-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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