Variant report

Variant	rs8091483
Chromosome Location	chr18:9712173-9712174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9616973..9619527-chr18:9711336..9714007,2	K562	blood:
2	chr18:9703204..9706158-chr18:9711688..9713754,2	K562	blood:
3	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
4	chr18:9711649..9714117-chr18:9915144..9917069,2	K562	blood:
5	chr18:9608014..9609757-chr18:9710686..9713009,2	K562	blood:
6	chr18:9612884..9614768-chr18:9710138..9713056,2	K562	blood:
7	chr18:9711884..9712497-chr6:27100748..27101377,2	Hela-S3	cervix:
8	chr18:9710429..9712900-chr18:9763874..9766310,2	K562	blood:

Variant related genes	Relation type
ENSG00000212572	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1563329	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7226695	0.83[AMR][1000 genomes]
rs7240191	0.83[AMR][1000 genomes]
rs8090845	0.83[AMR][1000 genomes]
rs9947855	0.83[AMR][1000 genomes]
rs9967201	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9709200-9713000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr18:9709600-9712400	Enhancers	Spleen	Spleen
3	chr18:9709600-9713400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr18:9709800-9714400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:9710000-9712200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:9710000-9712200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr18:9710000-9712600	Enhancers	Placenta	Placenta
8	chr18:9710000-9719600	Weak transcription	HSMM	muscle
9	chr18:9710200-9712200	Weak transcription	Gastric	stomach
10	chr18:9710200-9712400	Enhancers	Colon Smooth Muscle	Colon
11	chr18:9710200-9712600	Weak transcription	Fetal Heart	heart
12	chr18:9710200-9712600	Enhancers	Ovary	ovary
13	chr18:9710200-9713200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:9710200-9714600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
16	chr18:9710400-9712200	Weak transcription	NHLF	lung
17	chr18:9710400-9712400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:9710400-9712600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:9710400-9712800	Enhancers	NHDF-Ad	bronchial
20	chr18:9710400-9713200	Enhancers	Osteobl	bone
21	chr18:9710400-9714200	Weak transcription	Brain Anterior Caudate	brain
22	chr18:9710400-9715200	Enhancers	K562	blood
23	chr18:9710400-9716800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:9710400-9718800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
26	chr18:9710600-9713000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:9710600-9713600	Enhancers	Brain Cingulate Gyrus	brain
28	chr18:9710800-9713000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:9710800-9717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:9711000-9712400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr18:9711000-9712400	Enhancers	Brain Substantia Nigra	brain
32	chr18:9711000-9712400	Enhancers	Rectal Smooth Muscle	rectum
33	chr18:9711000-9712400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr18:9711000-9712400	Flanking Active TSS	GM12878-XiMat	blood
35	chr18:9711000-9712800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr18:9711000-9713600	Enhancers	Adipose Nuclei	Adipose
37	chr18:9711000-9715400	Enhancers	Brain Hippocampus Middle	brain
38	chr18:9711200-9712400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr18:9711200-9712400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr18:9711200-9712400	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr18:9711200-9712800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:9711200-9713000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:9711200-9713200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:9711400-9712200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr18:9711400-9712400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr18:9711400-9713000	Enhancers	Stomach Mucosa	stomach
47	chr18:9711400-9713600	Enhancers	Small Intestine	intestine
48	chr18:9711400-9718200	Enhancers	Primary B cells from peripheral blood	blood
49	chr18:9711400-9718600	Weak transcription	NHEK	skin
50	chr18:9711600-9712600	Enhancers	Fetal Muscle Leg	muscle

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