Variant report

Variant	rs12953380
Chromosome Location	chr18:8999085-8999086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8997453..9000421-chr18:9008613..9011435,4	K562	blood:
2	chr18:8998101..9000276-chr18:9132895..9136120,3	K562	blood:
3	chr18:8998776..9001025-chr18:9134004..9135703,2	K562	blood:
4	chr18:8998136..9000342-chr18:9000567..9002261,2	K562	blood:

Variant related genes	Relation type
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12954021	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12956041	1.00[ASW][hapmap]
rs12966593	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35932057	0.87[EUR][1000 genomes]
rs9954967	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8997200-9001600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:8997800-8999200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr18:8997800-8999400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:8998000-8999200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:8998400-8999200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:8998400-8999200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:8998400-9001000	Enhancers	NHDF-Ad	bronchial
8	chr18:8998400-9002000	Enhancers	Colon Smooth Muscle	Colon
9	chr18:8998600-8999200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:8998600-8999200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr18:8998600-8999400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:8998600-8999400	Enhancers	Stomach Mucosa	stomach
13	chr18:8998600-8999400	Flanking Active TSS	K562	blood
14	chr18:8998600-8999400	Enhancers	NH-A	brain
15	chr18:8998600-8999400	Enhancers	NHLF	lung
16	chr18:8998600-8999600	Enhancers	Liver	Liver
17	chr18:8998600-8999800	Enhancers	Hela-S3	cervix
18	chr18:8998600-9000200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:8998600-9001600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:8998600-9001600	Enhancers	Osteobl	bone
21	chr18:8998600-9001800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:8998600-9002000	Enhancers	Rectal Smooth Muscle	rectum
23	chr18:8998800-8999200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:8998800-8999400	Enhancers	A549	lung
25	chr18:8998800-8999600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:8999000-8999200	Enhancers	HMEC	breast
27	chr18:8999000-8999400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:8999000-8999400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr18:8999000-8999400	Enhancers	HSMMtube	muscle
30	chr18:8999000-8999600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr18:8999000-9000000	Weak transcription	Adipose Nuclei	Adipose
32	chr18:8999000-9000400	Weak transcription	Aorta	Aorta

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