Variant report

Variant	rs8097139
Chromosome Location	chr18:14431414-14431415
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10853249	0.95[ASN][1000 genomes]
rs35928226	0.95[ASN][1000 genomes]
rs36115549	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7233162	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431972	chr18:13804043-14753900	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv428006	chr18:14087067-14874733	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv576531	chr18:14105923-14540310	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv909424	chr18:14196965-14445897	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2757670	chr18:14208563-14558050	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv909426	chr18:14419170-14495615	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1830864	chr18:14419817-14560183	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1828427	chr18:14430015-14560355	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1849680	chr18:14430215-14521480	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1830968	chr18:14430215-14543123	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1828368	chr18:14430215-14560155	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv978567	chr18:14430233-14439251	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	nsv961028	chr18:14430836-14440998	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv16841	chr18:14431322-14599321	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv1832994	chr18:14431387-14560355	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14429800-14431800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr18:14430400-14431600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:14430400-14431600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr18:14430400-14432000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr18:14430600-14431600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:14430600-14431600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:14430600-14431600	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr18:14430600-14431600	Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr18:14430600-14431600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr18:14430600-14431600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:14430600-14431600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:14430600-14431600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:14430600-14431600	Active TSS	Brain Cingulate Gyrus	brain
14	chr18:14430600-14431600	Active TSS	Brain Germinal Matrix	brain
15	chr18:14430600-14431600	Active TSS	Brain Hippocampus Middle	brain
16	chr18:14430600-14431600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:14430600-14431600	Active TSS	Brain Substantia Nigra	brain
18	chr18:14430600-14431600	Active TSS	Esophagus	oesophagus
19	chr18:14430600-14431600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr18:14430600-14431600	Active TSS	Left Ventricle	heart
21	chr18:14430600-14431600	Active TSS	Ovary	ovary
22	chr18:14430600-14431600	Active TSS	Pancreas	Pancrea
23	chr18:14430600-14431600	Active TSS	Rectal Smooth Muscle	rectum
24	chr18:14430600-14431600	Active TSS	Right Atrium	heart
25	chr18:14430600-14431600	Active TSS	Right Ventricle	heart
26	chr18:14430600-14431600	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr18:14430600-14431600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr18:14430600-14431600	Active TSS	HepG2	liver
29	chr18:14430600-14431600	Active TSS	HMEC	breast
30	chr18:14430600-14431600	Active TSS	HSMM	muscle
31	chr18:14430600-14431600	Active TSS	Osteobl	bone
32	chr18:14430600-14431800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:14430600-14432000	Active TSS	Fetal Brain Female	brain
34	chr18:14430800-14431600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr18:14430800-14431600	Active TSS	Psoas Muscle	Psoas
36	chr18:14431000-14431600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
37	chr18:14431000-14431600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr18:14431000-14431600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:14431000-14431600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:14431000-14431600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr18:14431000-14431600	Active TSS	Fetal Intestine Large	intestine
42	chr18:14431000-14431600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
43	chr18:14431000-14431600	Active TSS	Stomach Smooth Muscle	stomach
44	chr18:14431000-14431600	Bivalent/Poised TSS	Thymus	Thymus
45	chr18:14431000-14431600	Active TSS	HSMMtube	muscle
46	chr18:14431200-14431600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr18:14431200-14431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:14431200-14431600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:14431200-14431600	Enhancers	Lung	lung
50	chr18:14431400-14431600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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