Variant report

Variant	rs73852398
Chromosome Location	chr3:110798550-110798551
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12185974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1824709	0.89[EUR][1000 genomes]
rs55987847	0.88[AFR][1000 genomes]
rs56324569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724510	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58112872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61190717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61219682	0.81[AFR][1000 genomes]
rs6437943	0.83[EUR][1000 genomes]
rs73852350	0.88[AFR][1000 genomes]
rs73852352	0.88[AFR][1000 genomes]
rs73852384	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73852394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852401	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73852402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854903	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854905	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854910	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73854911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854920	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73854921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854923	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73854926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854928	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854929	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7622397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642664	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844779	0.83[EUR][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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110792600-110800000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:110792600-110802200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:110792600-110803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:110793000-110799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:110793000-110799200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:110793000-110799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:110793200-110798800	Weak transcription	HSMM	muscle
8	chr3:110793200-110799400	Weak transcription	Fetal Kidney	kidney
9	chr3:110793200-110799800	Weak transcription	HSMMtube	muscle
10	chr3:110793400-110799800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:110794200-110800800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:110794200-110801600	Weak transcription	Ovary	ovary
13	chr3:110794200-110802200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:110794200-110809200	Weak transcription	Fetal Brain Male	brain
15	chr3:110794400-110799400	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:110794400-110813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:110794800-110804600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:110794800-110805200	Enhancers	Dnd41	blood
19	chr3:110795000-110798800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:110795000-110798800	Enhancers	Fetal Intestine Large	intestine
21	chr3:110795000-110800200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:110795000-110801200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:110795200-110800200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:110795600-110801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:110795800-110799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:110796000-110804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:110796200-110801200	Enhancers	NHDF-Ad	bronchial
28	chr3:110796200-110806800	Weak transcription	Small Intestine	intestine
29	chr3:110796400-110799000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:110796600-110798600	Weak transcription	Stomach Mucosa	stomach
31	chr3:110796600-110803600	Weak transcription	HepG2	liver
32	chr3:110796800-110798600	Enhancers	Fetal Lung	lung
33	chr3:110796800-110801200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:110797000-110799800	Enhancers	A549	lung
35	chr3:110797000-110801200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:110797200-110798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:110797200-110801000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:110797400-110801000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:110797800-110798800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:110797800-110799000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:110797800-110799600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:110797800-110799600	Weak transcription	Fetal Intestine Small	intestine
43	chr3:110797800-110799800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:110797800-110800800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:110797800-110801400	Enhancers	Liver	Liver
46	chr3:110798000-110798800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:110798000-110800200	Enhancers	NHLF	lung
48	chr3:110798400-110799600	Enhancers	HUVEC	blood vessel
49	chr3:110798400-110800400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:110798400-110800800	Enhancers	HUES6 Cell Line	embryonic stem cell

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