Variant report

Variant	rs73232681
Chromosome Location	chr3:141796252-141796253
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11705932	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13322825	0.85[ASN][1000 genomes]
rs1355438	0.81[ASN][1000 genomes]
rs1704985	0.98[ASN][1000 genomes]
rs1705607	0.98[ASN][1000 genomes]
rs1705614	0.95[ASN][1000 genomes]
rs1705624	0.85[ASN][1000 genomes]
rs347679	0.91[ASN][1000 genomes]
rs347685	0.98[ASN][1000 genomes]
rs347686	0.98[ASN][1000 genomes]
rs347692	0.89[ASN][1000 genomes]
rs4683421	0.85[ASN][1000 genomes]
rs5028811	0.85[ASN][1000 genomes]
rs58573615	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62284572	0.90[EUR][1000 genomes]
rs62284574	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62284579	0.81[ASN][1000 genomes]
rs6773343	0.94[ASN][1000 genomes]
rs6791514	0.81[ASN][1000 genomes]
rs6794342	0.81[ASN][1000 genomes]
rs6797841	0.83[ASN][1000 genomes]
rs6798162	0.81[ASN][1000 genomes]
rs7635444	0.83[ASN][1000 genomes]
rs7652340	0.81[ASN][1000 genomes]
rs9837768	0.84[ASN][1000 genomes]
rs9857917	0.94[ASN][1000 genomes]
rs9865413	0.83[ASN][1000 genomes]
rs9869592	0.85[ASN][1000 genomes]
rs9877817	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2757013	chr3:141756541-142094631	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1002123	chr3:141789746-141956778	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv536733	chr3:141789746-141956778	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1004784	chr3:141789746-142070290	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141760600-141800800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:141761000-141807800	Weak transcription	Fetal Lung	lung
3	chr3:141761800-141819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:141763000-141820000	Weak transcription	Pancreas	Pancrea
5	chr3:141763000-141824200	Weak transcription	Aorta	Aorta
6	chr3:141764000-141825600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:141765000-141818800	Weak transcription	Primary B cells from cord blood	blood
8	chr3:141767000-141798000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:141767600-141807200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:141774400-141798800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:141776000-141805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:141780600-141796400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:141780800-141796400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:141785200-141796600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:141789600-141805000	Weak transcription	HepG2	liver
16	chr3:141790400-141801600	Weak transcription	Brain Anterior Caudate	brain
17	chr3:141792800-141796600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:141792800-141800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:141794400-141798600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:141794600-141798800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:141795000-141806000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:141795200-141799200	Weak transcription	Fetal Brain Female	brain
23	chr3:141795400-141835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:141795600-141796400	Enhancers	Fetal Intestine Large	intestine
25	chr3:141795600-141797600	Enhancers	Placenta	Placenta
26	chr3:141795600-141797600	Genic enhancers	Fetal Thymus	thymus
27	chr3:141795600-141797800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:141795800-141796600	Enhancers	Colonic Mucosa	Colon
29	chr3:141795800-141796800	Enhancers	Duodenum Mucosa	Duodenum
30	chr3:141795800-141796800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr3:141795800-141797000	Genic enhancers	Fetal Intestine Small	intestine
32	chr3:141795800-141797200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:141795800-141797200	Strong transcription	Fetal Stomach	stomach
34	chr3:141795800-141797600	Strong transcription	Ovary	ovary
35	chr3:141795800-141797800	Weak transcription	Gastric	stomach
36	chr3:141795800-141811000	Weak transcription	Esophagus	oesophagus
37	chr3:141796000-141796600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr3:141796000-141796600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:141796000-141796600	Enhancers	Small Intestine	intestine
40	chr3:141796000-141797400	Enhancers	Lung	lung
41	chr3:141796000-141797600	Strong transcription	Fetal Muscle Leg	muscle
42	chr3:141796000-141797600	Strong transcription	Dnd41	blood
43	chr3:141796000-141807400	Weak transcription	Liver	Liver
44	chr3:141796200-141797400	Weak transcription	Adipose Nuclei	Adipose
45	chr3:141796200-141797400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr3:141796200-141797600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:141796200-141797800	Genic enhancers	Thymus	Thymus

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