Variant report

Variant	rs8091047
Chromosome Location	chr18:43875363-43875364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43870083..43872915-chr18:43874054..43877028,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56103237	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60380872	0.94[AFR][1000 genomes]
rs73953803	0.84[AFR][1000 genomes]
rs73956291	1.00[AFR][1000 genomes]
rs73956292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956293	1.00[AMR][1000 genomes]
rs73956294	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43852200-43879000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr18:43853000-43877800	Weak transcription	Primary T cells from cord blood	blood
3	chr18:43857000-43877800	Weak transcription	Aorta	Aorta
4	chr18:43869600-43878200	Weak transcription	Psoas Muscle	Psoas
5	chr18:43872800-43877200	Enhancers	Fetal Brain Male	brain
6	chr18:43873000-43875600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:43873000-43875600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:43873000-43875800	Enhancers	Fetal Brain Female	brain
9	chr18:43873200-43875400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:43873200-43875600	Enhancers	Fetal Muscle Leg	muscle
11	chr18:43873400-43875400	Flanking Active TSS	Hela-S3	cervix
12	chr18:43873600-43875800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr18:43873800-43880400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:43874000-43875400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:43874000-43877800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:43874000-43884200	Weak transcription	Spleen	Spleen
17	chr18:43874200-43877800	Weak transcription	Esophagus	oesophagus
18	chr18:43874200-43881200	Weak transcription	Right Ventricle	heart
19	chr18:43874600-43875400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:43874600-43875400	Enhancers	Lung	lung
21	chr18:43874800-43881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:43875000-43875600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr18:43875000-43875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr18:43875000-43878600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:43875200-43875800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:43875200-43878200	Weak transcription	Fetal Muscle Trunk	muscle

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