Variant report

Variant	rs11991454
Chromosome Location	chr8:121650728-121650729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr8:121650403-121650731	H1-hESC	embryonic stem cell:	n/a	chr8:121650519-121650526 chr8:121650519-121650526 chr8:121650519-121650526

Variant related genes	Relation type
ENSG00000250290	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11988273	1.00[AMR][1000 genomes]
rs4132497	1.00[AMR][1000 genomes]
rs73321219	1.00[AMR][1000 genomes]
rs73323141	1.00[AMR][1000 genomes]
rs7812415	1.00[AMR][1000 genomes]
rs9969409	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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
2	chr8:121628600-121673200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121633600-121654000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:121638400-121652400	Weak transcription	NHDF-Ad	bronchial
5	chr8:121638400-121653600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:121640600-121654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:121644200-121666800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:121644800-121664400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:121644800-121664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121644800-121674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:121645000-121651200	Weak transcription	Lung	lung
12	chr8:121645000-121653600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:121645000-121654600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:121645000-121655200	Weak transcription	HSMM	muscle
15	chr8:121645000-121655200	Weak transcription	HSMMtube	muscle
16	chr8:121645000-121664400	Weak transcription	NHLF	lung
17	chr8:121645000-121666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:121645000-121673000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:121645200-121655000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:121645200-121655400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:121645200-121665200	Weak transcription	Primary B cells from cord blood	blood
22	chr8:121645400-121653200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:121645400-121653800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:121645400-121662400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:121645600-121662400	Weak transcription	Primary T cells from cord blood	blood
26	chr8:121646400-121666800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:121649400-121653200	Weak transcription	Liver	Liver
28	chr8:121650200-121653600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:121650600-121654200	Weak transcription	HepG2	liver

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