Variant report

Variant	rs56324569
Chromosome Location	chr3:110830425-110830426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12185974	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801650	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1824709	0.89[EUR][1000 genomes]
rs56724510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58112872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61190717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437943	0.83[EUR][1000 genomes]
rs73852384	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73852394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852401	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73852402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854903	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854905	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73854911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854912	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854920	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73854921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854923	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73854926	1.00[AFR][1000 genomes];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	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7622397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642664	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844779	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv591276	chr3:110822496-110854196	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv877338	chr3:110824425-110860188	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110805000-110833600	Weak transcription	NHDF-Ad	bronchial
2	chr3:110816000-110837600	Weak transcription	Fetal Stomach	stomach
3	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
4	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
6	chr3:110817600-110837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:110819200-110857200	Weak transcription	NHLF	lung
8	chr3:110823400-110838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:110823400-110838000	Weak transcription	Fetal Intestine Small	intestine
10	chr3:110824200-110832200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:110826600-110831800	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:110826600-110845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:110826800-110831800	Weak transcription	Fetal Lung	lung
14	chr3:110826800-110847600	Weak transcription	A549	lung
15	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:110827000-110847400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:110827600-110831600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:110827600-110831800	Weak transcription	Dnd41	blood
19	chr3:110827600-110831800	Weak transcription	HSMMtube	muscle
20	chr3:110827600-110833400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:110827600-110842200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:110827800-110831000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:110827800-110849200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:110828000-110830600	Weak transcription	Ovary	ovary
25	chr3:110828000-110831800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:110828000-110831800	Weak transcription	Small Intestine	intestine
27	chr3:110828000-110837200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:110828000-110851400	Weak transcription	Aorta	Aorta
29	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
30	chr3:110829600-110830800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:110829600-110837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:110829800-110831400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:110830200-110831400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:110830200-110831800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:110830200-110832600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:110830400-110830600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:110830400-110830600	Enhancers	Right Ventricle	heart
38	chr3:110830400-110830800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:110830400-110830800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:110830400-110830800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:110830400-110830800	Enhancers	Gastric	stomach
42	chr3:110830400-110830800	Enhancers	Psoas Muscle	Psoas
43	chr3:110830400-110831000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:110830400-110831200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:110830400-110831400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:110830400-110832200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:110830400-110832400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:110830400-110852800	Weak transcription	NH-A	brain

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