Variant report

Variant	rs7239466
Chromosome Location	chr18:7947633-7947634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10164001	0.98[AFR][1000 genomes]
rs13381990	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952566	1.00[MEX][hapmap]
rs28429357	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28714420	0.88[AFR][1000 genomes]
rs6506541	0.92[ASW][hapmap]
rs7230073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944589	0.92[ASW][hapmap]
rs9951398	0.91[ASW][hapmap]
rs9954126	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs9962120	0.85[AFR][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7937600-7949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr18:7941400-7955000	Weak transcription	Psoas Muscle	Psoas
5	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:7942200-7955200	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:7945400-7948000	Enhancers	Small Intestine	intestine
10	chr18:7945600-7947800	Enhancers	HUVEC	blood vessel
11	chr18:7945600-7950400	Weak transcription	Left Ventricle	heart
12	chr18:7945800-7947800	Enhancers	Right Ventricle	heart
13	chr18:7946000-7948000	Enhancers	Pancreas	Pancrea
14	chr18:7946200-7947800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
16	chr18:7946400-7948000	Flanking Active TSS	A549	lung
17	chr18:7946600-7947800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr18:7946600-7947800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr18:7946800-7947800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:7946800-7947800	Enhancers	Gastric	stomach
21	chr18:7946800-7948000	Enhancers	Lung	lung
22	chr18:7946800-7948000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr18:7946800-7955000	Weak transcription	Fetal Lung	lung
24	chr18:7947000-7952400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr18:7947000-7954200	Weak transcription	Fetal Kidney	kidney
26	chr18:7947200-7947800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:7947200-7948000	Enhancers	Fetal Thymus	thymus
28	chr18:7947200-7949600	Weak transcription	Colonic Mucosa	Colon
29	chr18:7947200-7950200	Weak transcription	Stomach Mucosa	stomach
30	chr18:7947200-7950800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:7947200-7955600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr18:7947200-7955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr18:7947200-7958200	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:7947200-7981400	Weak transcription	Fetal Stomach	stomach
35	chr18:7947400-7947800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:7947400-7947800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr18:7947400-7947800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr18:7947400-7947800	Enhancers	Brain Anterior Caudate	brain
39	chr18:7947400-7947800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr18:7947400-7947800	Enhancers	NH-A	brain
41	chr18:7947400-7947800	Active TSS	NHEK	skin
42	chr18:7947400-7947800	Enhancers	NHLF	lung
43	chr18:7947400-7948000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:7947400-7948000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:7947400-7948000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr18:7947400-7948000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:7947400-7948000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:7947400-7948000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:7947400-7948000	Enhancers	Adipose Nuclei	Adipose
50	chr18:7947400-7948000	Enhancers	Brain Cingulate Gyrus	brain

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