Variant report

Variant	rs2299840
Chromosome Location	chr18:9828963-9828964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9717754..9719385-chr18:9828392..9830526,2	K562	blood:
2	chr18:9825919..9829366-chr18:9837136..9840599,3	K562	blood:
3	chr18:9825121..9830026-chr18:9912205..9915601,6	K562	blood:
4	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:
5	chr18:9827396..9830194-chr18:9940350..9942293,2	K562	blood:
6	chr18:9799694..9801821-chr18:9826551..9829296,3	K562	blood:
7	chr18:9827039..9829893-chr18:9913729..9916030,3	K562	blood:
8	chr18:9614716..9616329-chr18:9828113..9830170,2	K562	blood:
9	chr18:9827581..9829385-chr18:9951706..9954584,2	K562	blood:
10	chr18:9827037..9829047-chr18:9904240..9906414,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2267559	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284138	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60480347	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:9823000-9830600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr18:9823800-9829200	Enhancers	Placenta	Placenta
6	chr18:9823800-9829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:9823800-9829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:9824400-9829000	Enhancers	Fetal Intestine Small	intestine
9	chr18:9824400-9829200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9824600-9829600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr18:9825200-9830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9825400-9829800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:9825400-9832200	Weak transcription	Fetal Stomach	stomach
14	chr18:9825400-9849800	Weak transcription	Gastric	stomach
15	chr18:9825800-9831000	Weak transcription	Brain Hippocampus Middle	brain
16	chr18:9825800-9831200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr18:9825800-9831200	Weak transcription	Right Ventricle	heart
18	chr18:9825800-9831400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
20	chr18:9826000-9829200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:9826000-9831000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
23	chr18:9826200-9830800	Weak transcription	Brain Substantia Nigra	brain
24	chr18:9826200-9831000	Weak transcription	Aorta	Aorta
25	chr18:9826200-9831800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr18:9826400-9830200	Weak transcription	Fetal Intestine Large	intestine
27	chr18:9826600-9829400	Enhancers	NHLF	lung
28	chr18:9826800-9829400	Enhancers	NH-A	brain
29	chr18:9826800-9829600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr18:9827000-9829000	Enhancers	Duodenum Mucosa	Duodenum
31	chr18:9827200-9829600	Enhancers	NHDF-Ad	bronchial
32	chr18:9827400-9829000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:9827400-9829000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:9827400-9829000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:9827400-9829000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr18:9827400-9829000	Flanking Active TSS	A549	lung
37	chr18:9827600-9830800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:9827800-9829000	Enhancers	HSMM	muscle
39	chr18:9827800-9829400	Flanking Active TSS	NHEK	skin
40	chr18:9827800-9837800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr18:9828000-9829000	Enhancers	Esophagus	oesophagus
42	chr18:9828000-9829800	Flanking Active TSS	K562	blood
43	chr18:9828200-9829000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:9828200-9829000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:9828200-9831400	Weak transcription	Right Atrium	heart
46	chr18:9828200-9831600	Weak transcription	Left Ventricle	heart
47	chr18:9828200-9832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:9828400-9829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:9828400-9829200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:9828400-9829200	Enhancers	Osteobl	bone

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