Variant report

Variant	rs8089454
Chromosome Location	chr18:9928588-9928589
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr18:9928251-9928770	K562	blood:	n/a	n/a
2	POLR2A	chr18:9926460-9928863	K562	blood:	n/a	n/a
3	POLR2A	chr18:9923493-9930028	K562	blood:	n/a	n/a
4	POLR2A	chr18:9924245-9930012	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9756292..9758838-chr18:9926698..9928594,2	K562	blood:
2	chr18:9869885..9871573-chr18:9928479..9930927,2	K562	blood:
3	chr18:9803187..9805652-chr18:9928374..9931029,2	K562	blood:
4	chr18:9913003..9915698-chr18:9927234..9929948,3	MCF-7	breast:
5	chr18:9922365..9924336-chr18:9928568..9931025,2	MCF-7	breast:

No data

Variant related genes	Relation type
VAPA	TF binding region
ENSG00000223138	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10468661	1.00[AMR][1000 genomes]
rs10468662	1.00[AMR][1000 genomes]
rs12326418	1.00[AMR][1000 genomes]
rs12327176	1.00[AMR][1000 genomes]
rs13381594	1.00[AMR][1000 genomes]
rs16955716	1.00[AMR][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	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
2	nsv576464	chr18:9913906-9936185	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9915400-9946600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9915600-9929800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:9915800-9929800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr18:9915800-9931600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr18:9916200-9931000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr18:9916400-9929800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr18:9916600-9932800	Weak transcription	Fetal Stomach	stomach
8	chr18:9916800-9929800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:9917000-9936000	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9917800-9936400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:9918600-9930600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr18:9918800-9936000	Weak transcription	Fetal Brain Male	brain
13	chr18:9918800-9936600	Weak transcription	HSMMtube	muscle
14	chr18:9919200-9932400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr18:9919200-9932400	Weak transcription	Placenta	Placenta
16	chr18:9921000-9929200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:9921000-9929200	Weak transcription	Esophagus	oesophagus
18	chr18:9921000-9931600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr18:9921400-9937400	Weak transcription	Fetal Brain Female	brain
20	chr18:9921800-9929000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr18:9922200-9929800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr18:9922200-9929800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:9922200-9930000	Enhancers	Brain Cingulate Gyrus	brain
24	chr18:9922400-9929600	Enhancers	Brain Anterior Caudate	brain
25	chr18:9922600-9929800	Enhancers	Brain Substantia Nigra	brain
26	chr18:9922800-9936400	Weak transcription	Spleen	Spleen
27	chr18:9923000-9930000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr18:9923600-9928800	Enhancers	Adipose Nuclei	Adipose
29	chr18:9923600-9929400	Enhancers	HepG2	liver
30	chr18:9923600-9929600	Enhancers	A549	lung
31	chr18:9923800-9931400	Weak transcription	Dnd41	blood
32	chr18:9924200-9928600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr18:9924200-9930800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:9924400-9928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:9924400-9929600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr18:9924400-9929800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr18:9924400-9930600	Enhancers	Brain Angular Gyrus	brain
38	chr18:9924600-9930600	Enhancers	Primary T cells from cord blood	blood
39	chr18:9924800-9930000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr18:9924800-9932000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr18:9924800-9953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:9925000-9929400	Weak transcription	Stomach Mucosa	stomach
43	chr18:9925600-9929200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr18:9925600-9929600	Enhancers	Brain Hippocampus Middle	brain
45	chr18:9925600-9929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr18:9925800-9929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:9925800-9929600	Enhancers	Primary B cells from peripheral blood	blood
48	chr18:9925800-9929600	Enhancers	Fetal Intestine Large	intestine
49	chr18:9925800-9929800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr18:9925800-9930000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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