Variant report

Variant	rs58991139
Chromosome Location	chr18:12496003-12496004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12104087	1.00[AMR][1000 genomes]
rs16977216	0.86[AFR][1000 genomes]
rs4313868	1.00[AMR][1000 genomes]
rs73403718	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403766	0.90[AFR][1000 genomes]
rs73405595	1.00[AMR][1000 genomes]
rs73407539	1.00[AMR][1000 genomes]
rs73407558	1.00[AMR][1000 genomes]
rs73407559	1.00[AMR][1000 genomes]
rs73407561	1.00[AMR][1000 genomes]
rs73407562	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:82 , 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	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
3	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
4	chr18:12478600-12498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
6	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:12478800-12497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:12478800-12499600	Weak transcription	NHLF	lung
9	chr18:12478800-12504800	Weak transcription	Gastric	stomach
10	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr18:12478800-12514200	Weak transcription	NH-A	brain
12	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
14	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
15	chr18:12480800-12497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr18:12480800-12511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:12481000-12499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr18:12484000-12496200	Strong transcription	HSMM	muscle
19	chr18:12486200-12504600	Weak transcription	HMEC	breast
20	chr18:12488400-12496200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:12490200-12503400	Weak transcription	Brain Angular Gyrus	brain
22	chr18:12490400-12502800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:12491000-12496400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:12491400-12496200	Strong transcription	Fetal Brain Female	brain
25	chr18:12491400-12496200	Strong transcription	Osteobl	bone
26	chr18:12491600-12510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr18:12491800-12497000	Weak transcription	Small Intestine	intestine
28	chr18:12491800-12502200	Weak transcription	Spleen	Spleen
29	chr18:12492000-12496200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:12492000-12504800	Weak transcription	Aorta	Aorta
31	chr18:12492200-12497400	Weak transcription	Lung	lung
32	chr18:12492200-12501600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:12492200-12530400	Weak transcription	HepG2	liver
34	chr18:12492200-12532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
36	chr18:12492400-12496200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:12492400-12496200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:12492400-12504800	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:12492400-12515600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:12492600-12504800	Weak transcription	Fetal Heart	heart
41	chr18:12492800-12510800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:12493000-12541200	Weak transcription	NHEK	skin
43	chr18:12493200-12501800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr18:12493200-12506400	Weak transcription	Left Ventricle	heart
45	chr18:12493200-12510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:12493200-12512600	Weak transcription	Fetal Brain Male	brain
47	chr18:12493200-12518400	Weak transcription	Esophagus	oesophagus
48	chr18:12493200-12520000	Weak transcription	Colon Smooth Muscle	Colon
49	chr18:12493200-12520400	Weak transcription	Psoas Muscle	Psoas
50	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach

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