Variant report

Variant	rs16823360
Chromosome Location	chr2:144709343-144709344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10496957	0.89[JPT][hapmap]
rs12615549	0.89[JPT][hapmap]
rs1427315	0.89[JPT][hapmap]
rs1465366	0.89[JPT][hapmap]
rs1465367	0.89[JPT][hapmap]
rs1465368	0.84[JPT][hapmap]
rs1469474	0.89[ASN][1000 genomes]
rs16823412	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs16823475	0.89[JPT][hapmap]
rs28648869	0.87[ASN][1000 genomes]
rs4662217	0.89[JPT][hapmap]
rs4662364	0.89[JPT][hapmap]
rs4662366	0.89[JPT][hapmap]
rs55767081	0.93[ASN][1000 genomes]
rs55933933	0.93[ASN][1000 genomes]
rs6430050	0.89[JPT][hapmap]
rs6719835	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs6725251	0.89[JPT][hapmap]
rs72852945	0.94[ASN][1000 genomes]
rs72852949	0.94[ASN][1000 genomes]
rs72852962	0.93[ASN][1000 genomes]
rs7564488	0.88[JPT][hapmap]
rs7572015	0.89[JPT][hapmap]
rs7602624	0.89[JPT][hapmap]
rs7606556	0.91[ASN][1000 genomes]
rs959766	0.89[JPT][hapmap]
rs959767	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:144695400-144714200	Weak transcription	Gastric	stomach
2	chr2:144696000-144713200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:144696200-144709800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:144696600-144712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:144696600-144717800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:144698000-144709600	Weak transcription	Aorta	Aorta
7	chr2:144698400-144710800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:144698600-144710400	Weak transcription	Ovary	ovary
9	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:144700600-144710000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:144700800-144710400	Weak transcription	Small Intestine	intestine
12	chr2:144700800-144719600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:144701000-144710200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:144704400-144713400	Weak transcription	Esophagus	oesophagus
15	chr2:144704600-144709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:144704600-144711200	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:144704600-144713400	Weak transcription	Lung	lung
18	chr2:144704600-144728800	Weak transcription	Spleen	Spleen
19	chr2:144704800-144710000	Weak transcription	Fetal Brain Female	brain
20	chr2:144704800-144710800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:144704800-144712600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:144704800-144712600	Weak transcription	Fetal Stomach	stomach
23	chr2:144704800-144713200	Weak transcription	Liver	Liver
24	chr2:144704800-144719200	Weak transcription	Primary B cells from cord blood	blood
25	chr2:144704800-144730800	Weak transcription	Left Ventricle	heart
26	chr2:144705000-144717800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:144705400-144710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:144706600-144709800	Enhancers	Fetal Lung	lung
29	chr2:144707000-144711000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:144707200-144711000	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:144707200-144711000	Weak transcription	HSMMtube	muscle
32	chr2:144707200-144712600	Weak transcription	Fetal Heart	heart
33	chr2:144707200-144713200	Enhancers	Fetal Brain Male	brain
34	chr2:144707400-144711000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:144707400-144711400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:144707400-144712000	Weak transcription	NH-A	brain
37	chr2:144707600-144710800	Weak transcription	Osteobl	bone
38	chr2:144707600-144711000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:144707600-144711000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:144707600-144711000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:144708000-144713000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:144708600-144709600	Active TSS	NHDF-Ad	bronchial
43	chr2:144708600-144711000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:144708600-144711200	Weak transcription	HSMM	muscle
45	chr2:144708800-144709600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:144709200-144709600	Weak transcription	NHLF	lung
47	chr2:144709200-144714600	Weak transcription	Fetal Kidney	kidney

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