Variant report

Variant	rs116401934
Chromosome Location	chr18:12503540-12503541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv511600	chr18:12502514-12505089	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	nsv512517	chr18:12503410-12504665	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	esv3316522	chr18:12503525-12504564	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
3	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
4	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12478800-12504800	Weak transcription	Gastric	stomach
6	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:12478800-12514200	Weak transcription	NH-A	brain
8	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
10	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
11	chr18:12480800-12511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:12486200-12504600	Weak transcription	HMEC	breast
13	chr18:12491600-12510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:12492000-12504800	Weak transcription	Aorta	Aorta
15	chr18:12492200-12530400	Weak transcription	HepG2	liver
16	chr18:12492200-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
18	chr18:12492400-12504800	Weak transcription	Brain Hippocampus Middle	brain
19	chr18:12492400-12515600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:12492600-12504800	Weak transcription	Fetal Heart	heart
21	chr18:12492800-12510800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:12493000-12541200	Weak transcription	NHEK	skin
23	chr18:12493200-12506400	Weak transcription	Left Ventricle	heart
24	chr18:12493200-12510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:12493200-12512600	Weak transcription	Fetal Brain Male	brain
26	chr18:12493200-12518400	Weak transcription	Esophagus	oesophagus
27	chr18:12493200-12520000	Weak transcription	Colon Smooth Muscle	Colon
28	chr18:12493200-12520400	Weak transcription	Psoas Muscle	Psoas
29	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr18:12493400-12515800	Weak transcription	Brain Substantia Nigra	brain
31	chr18:12493800-12504800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr18:12494000-12515000	Weak transcription	Fetal Lung	lung
33	chr18:12494200-12504800	Weak transcription	Brain Anterior Caudate	brain
34	chr18:12494200-12515000	Weak transcription	HUVEC	blood vessel
35	chr18:12494400-12515600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr18:12495400-12515800	Weak transcription	NHDF-Ad	bronchial
37	chr18:12495800-12504800	Weak transcription	Brain Germinal Matrix	brain
38	chr18:12496000-12503600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:12496000-12504600	Weak transcription	Liver	Liver
40	chr18:12496000-12515000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:12496200-12505000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr18:12496200-12505000	Weak transcription	Osteobl	bone
43	chr18:12496400-12504400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:12497600-12518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:12497800-12506200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr18:12500000-12509200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:12500800-12520600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:12501400-12507400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr18:12501600-12503600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr18:12501600-12504000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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