Variant report

Variant	rs3813070
Chromosome Location	chr18:45423486-45423487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45423330..45425218-chr18:45460389..45462320,2	K562	blood:
2	chr18:45423054..45427118-chr18:45456865..45459520,4	MCF-7	breast:
3	chr18:45412259..45415200-chr18:45419567..45423866,3	MCF-7	breast:
4	chr18:45422809..45427886-chr18:45455832..45459212,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72661143	1.00[ASN][1000 genomes]
rs72661145	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72661150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72661152	1.00[AMR][1000 genomes];1.00[EUR][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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
2	chr18:45400400-45432200	Weak transcription	Ovary	ovary
3	chr18:45400600-45424600	Weak transcription	Stomach Mucosa	stomach
4	chr18:45401200-45426000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr18:45401400-45424600	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:45409200-45426400	Weak transcription	Fetal Kidney	kidney
7	chr18:45410600-45425000	Weak transcription	HSMMtube	muscle
8	chr18:45410800-45424400	Weak transcription	Colon Smooth Muscle	Colon
9	chr18:45410800-45424400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:45410800-45424600	Weak transcription	Brain Substantia Nigra	brain
11	chr18:45410800-45424800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:45410800-45425800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:45410800-45428000	Weak transcription	Aorta	Aorta
14	chr18:45411800-45424600	Strong transcription	Dnd41	blood
15	chr18:45415200-45426000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:45415800-45423800	Weak transcription	NHDF-Ad	bronchial
17	chr18:45415800-45425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:45417200-45424200	Weak transcription	NH-A	brain
19	chr18:45417400-45426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:45418000-45424600	Weak transcription	Liver	Liver
21	chr18:45418200-45428400	Weak transcription	Thymus	Thymus
22	chr18:45419600-45428000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:45420000-45426200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr18:45420600-45423800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr18:45420600-45425200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:45420600-45427000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr18:45420800-45424600	Weak transcription	Small Intestine	intestine
28	chr18:45420800-45425400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr18:45420800-45433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:45421000-45424800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr18:45421000-45425200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr18:45421000-45425800	Genic enhancers	Hela-S3	cervix
34	chr18:45421000-45430600	Weak transcription	Right Ventricle	heart
35	chr18:45421200-45423600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr18:45421200-45424400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr18:45421200-45424400	Weak transcription	HUVEC	blood vessel
38	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr18:45421400-45423600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:45421600-45424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:45421600-45425200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr18:45421600-45425800	Weak transcription	Brain Germinal Matrix	brain
43	chr18:45421800-45424200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr18:45421800-45424200	Weak transcription	Fetal Heart	heart
45	chr18:45421800-45425200	Weak transcription	Fetal Stomach	stomach
46	chr18:45421800-45426600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr18:45421800-45428000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr18:45421800-45428400	Weak transcription	Psoas Muscle	Psoas
49	chr18:45421800-45430400	Weak transcription	Esophagus	oesophagus
50	chr18:45421800-45430600	Weak transcription	H9 Cell Line	embryonic stem cell

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