Variant report

Variant	rs4239309
Chromosome Location	chr18:12825705-12825706
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs521453	0.94[YRI][hapmap]
rs543571	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
8	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
2	chr18:12790200-12828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
4	chr18:12791600-12828000	Weak transcription	HUVEC	blood vessel
5	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:12806400-12827600	Strong transcription	Dnd41	blood
7	chr18:12806800-12827400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr18:12807200-12826600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
10	chr18:12808600-12827400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:12808800-12827200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr18:12809000-12828000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:12809000-12828000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr18:12809600-12828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:12809600-12833200	Weak transcription	HSMM	muscle
16	chr18:12809600-12838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr18:12809600-12838200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:12811600-12828000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:12811800-12827400	Weak transcription	Psoas Muscle	Psoas
20	chr18:12812000-12838400	Weak transcription	Right Ventricle	heart
21	chr18:12814400-12843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:12814600-12828200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr18:12814600-12828200	Weak transcription	A549	lung
24	chr18:12815400-12827200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:12816200-12828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr18:12816400-12827400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:12817000-12827800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:12817400-12833400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:12817800-12837600	Weak transcription	NH-A	brain
30	chr18:12818800-12827400	Weak transcription	HMEC	breast
31	chr18:12820000-12836400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr18:12820200-12826200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:12820400-12826400	Strong transcription	Placenta	Placenta
34	chr18:12820400-12838600	Weak transcription	Brain Angular Gyrus	brain
35	chr18:12820800-12826000	Strong transcription	GM12878-XiMat	blood
36	chr18:12820800-12827000	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:12820800-12827000	Strong transcription	Thymus	Thymus
38	chr18:12820800-12827400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:12820800-12828200	Weak transcription	NHLF	lung
40	chr18:12820800-12828400	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:12820800-12830800	Weak transcription	Lung	lung
42	chr18:12820800-12837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:12820800-12838200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr18:12820800-12838200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:12821000-12827200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr18:12821000-12833400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr18:12821000-12840400	Weak transcription	Brain Substantia Nigra	brain
48	chr18:12821200-12826400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr18:12821400-12827400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:12821400-12827400	Strong transcription	Primary B cells from peripheral blood	blood

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