Variant report

Variant	rs73398973
Chromosome Location	chr18:11906482-11906483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11902690..11905411-chr18:11905422..11908532,4	K562	blood:
2	chr18:11905031..11907114-chr18:12010048..12012085,2	K562	blood:
3	chr18:11905898..11908508-chr18:11980358..11982828,3	K562	blood:
4	chr18:11899621..11904572-chr18:11905422..11909871,7	K562	blood:
5	chr18:11853727..11856399-chr18:11905762..11908760,2	K562	blood:
6	chr18:11885563..11889310-chr18:11906331..11909961,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000154889	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28544561	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73398968	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8093694	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv1059775	chr18:11892845-11911143	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv909383	chr18:11904266-11926730	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
3	chr18:11883600-11907000	Weak transcription	NH-A	brain
4	chr18:11885400-11907000	Weak transcription	HMEC	breast
5	chr18:11885600-11907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:11888000-11907200	Weak transcription	HSMM	muscle
7	chr18:11888200-11907200	Weak transcription	Stomach Mucosa	stomach
8	chr18:11889400-11907000	Weak transcription	NHEK	skin
9	chr18:11889600-11907000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:11890800-11907000	Weak transcription	Psoas Muscle	Psoas
11	chr18:11890800-11907200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:11891000-11907000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:11891000-11907000	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:11893800-11907200	Weak transcription	Ovary	ovary
15	chr18:11894000-11907200	Weak transcription	Fetal Lung	lung
16	chr18:11894200-11907400	Weak transcription	HUVEC	blood vessel
17	chr18:11895200-11907000	Weak transcription	Hela-S3	cervix
18	chr18:11896800-11907200	Weak transcription	NHLF	lung
19	chr18:11897000-11907000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:11897000-11907200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:11897000-11907200	Weak transcription	Osteobl	bone
22	chr18:11897000-11907400	Weak transcription	Brain Germinal Matrix	brain
23	chr18:11897200-11907200	Weak transcription	NHDF-Ad	bronchial
24	chr18:11899800-11907000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:11902600-11907000	Weak transcription	Right Ventricle	heart
26	chr18:11902800-11907000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:11902800-11907200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:11903000-11907000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:11903200-11907000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr18:11903200-11907200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:11903200-11907200	Weak transcription	HSMMtube	muscle
32	chr18:11903200-11908000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr18:11903400-11907000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:11903400-11907000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:11903400-11907000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:11903400-11907000	Weak transcription	Brain Substantia Nigra	brain
37	chr18:11903400-11907000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr18:11903400-11907200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr18:11903400-11907200	Weak transcription	Fetal Brain Female	brain
40	chr18:11903400-11907200	Weak transcription	Gastric	stomach
41	chr18:11903400-11907400	Weak transcription	Brain Angular Gyrus	brain
42	chr18:11903600-11907000	Weak transcription	Primary B cells from cord blood	blood
43	chr18:11903600-11907000	Weak transcription	Placenta	Placenta
44	chr18:11903600-11907000	Weak transcription	K562	blood
45	chr18:11903600-11907200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:11903600-11907400	Weak transcription	Esophagus	oesophagus
47	chr18:11903600-11908000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr18:11904200-11907000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr18:11904200-11907200	Weak transcription	Colonic Mucosa	Colon
50	chr18:11904200-11907400	Weak transcription	Stomach Smooth Muscle	stomach

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