Variant report

Variant	rs73388192
Chromosome Location	chr18:9107267-9107268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9089564..9091927-chr18:9106557..9108068,2	MCF-7	breast:
2	chr18:9101529..9104224-chr18:9106427..9108818,4	MCF-7	breast:
3	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
4	chr18:9105722..9108472-chr18:9137021..9138742,2	MCF-7	breast:
5	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:

Variant related genes	Relation type
ENSG00000265257	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73388195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9103000-9108000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr18:9103000-9108000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:9103400-9111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:9103400-9111600	Weak transcription	Pancreas	Pancrea
5	chr18:9103400-9113400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:9103400-9113400	Weak transcription	Spleen	Spleen
7	chr18:9103600-9108200	Transcr. at gene 5' and 3'	K562	blood
8	chr18:9103600-9110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:9103800-9107800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:9103800-9108000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr18:9103800-9117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9104000-9108000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr18:9104200-9107800	Enhancers	Stomach Mucosa	stomach
14	chr18:9104400-9108000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr18:9104400-9108000	Enhancers	Small Intestine	intestine
16	chr18:9104400-9116800	Weak transcription	Esophagus	oesophagus
17	chr18:9104400-9117000	Weak transcription	Lung	lung
18	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:9104600-9107400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:9104600-9111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr18:9104600-9112200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:9104800-9107400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr18:9104800-9108000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:9104800-9108000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:9104800-9108200	Enhancers	Fetal Intestine Large	intestine
26	chr18:9104800-9110400	Enhancers	Brain Substantia Nigra	brain
27	chr18:9105000-9107400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9105000-9108000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr18:9105000-9108000	Enhancers	Fetal Intestine Small	intestine
30	chr18:9105000-9112600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr18:9105200-9107400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:9105200-9107800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr18:9105200-9108000	Enhancers	Adipose Nuclei	Adipose
34	chr18:9105400-9107600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr18:9105400-9108000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:9105400-9108600	Enhancers	Primary hematopoietic stem cells	blood
37	chr18:9105600-9108600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr18:9105800-9107400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:9105800-9107600	Genic enhancers	Primary B cells from cord blood	blood
40	chr18:9105800-9108000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:9105800-9108000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:9105800-9108000	Enhancers	Fetal Lung	lung
43	chr18:9105800-9108000	Enhancers	Fetal Stomach	stomach
44	chr18:9105800-9108000	Genic enhancers	Hela-S3	cervix
45	chr18:9105800-9108400	Enhancers	Osteobl	bone
46	chr18:9106000-9107400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:9106000-9107400	Weak transcription	Colonic Mucosa	Colon
48	chr18:9106000-9107800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr18:9106000-9108000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:9106000-9108000	Enhancers	Brain Hippocampus Middle	brain

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