Variant report

Variant	rs5749232
Chromosome Location	chr22:31599664-31599665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31598041..31601034-chr22:31604196..31606916,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1005624	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1034587	0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10428007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089491	0.93[ASN][1000 genomes]
rs12106582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12627805	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12627941	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs12628752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17220369	0.82[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2027982	0.85[JPT][hapmap]
rs2073858	0.94[ASN][1000 genomes]
rs2074735	0.87[CHB][hapmap]
rs2239905	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2239906	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267169	0.87[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2267170	0.89[ASN][1000 genomes]
rs2267171	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283878	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283880	0.87[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs2413041	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28709894	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34184692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788428	0.87[CHB][hapmap]
rs4561750	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4615	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4645077	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820040	0.91[EUR][1000 genomes]
rs4820949	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820952	0.92[ASN][1000 genomes]
rs4820964	0.84[ASN][1000 genomes]
rs4820965	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55737363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55900008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749222	0.85[YRI][hapmap]
rs5749226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749231	0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs5749237	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749244	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749254	0.80[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs5753488	0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753499	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753518	0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs5753528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753531	0.89[ASN][1000 genomes]
rs5753550	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753551	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753559	0.84[JPT][hapmap]
rs5753560	0.82[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753573	0.87[EUR][1000 genomes]
rs5753577	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5997893	1.00[YRI][hapmap]
rs5997898	0.85[JPT][hapmap]
rs5997940	0.80[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs61006749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62236175	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62237396	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68136222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72617294	0.95[ASN][1000 genomes]
rs72617295	0.91[ASN][1000 genomes]
rs73158522	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737809	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8135417	1.00[YRI][hapmap]
rs886074	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9609263	0.80[JPT][hapmap]

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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
5	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
6	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
7	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:31576000-31607800	Weak transcription	A549	lung
9	chr22:31579200-31607400	Weak transcription	K562	blood
10	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:31582400-31602400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:31582800-31603600	Strong transcription	Liver	Liver
14	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:31585600-31599800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr22:31585600-31601200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr22:31586000-31603800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:31587000-31602200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr22:31588200-31606600	Strong transcription	Fetal Stomach	stomach
20	chr22:31588400-31603400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:31588600-31599800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:31588600-31606400	Strong transcription	Fetal Intestine Small	intestine
23	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:31589200-31602200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:31589400-31603600	Strong transcription	Adipose Nuclei	Adipose
26	chr22:31589400-31605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:31590600-31601800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31590600-31602000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr22:31590600-31603200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:31592000-31601200	Weak transcription	Small Intestine	intestine
31	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:31592800-31606000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:31594800-31602400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:31595000-31599800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:31595000-31600800	Strong transcription	Osteobl	bone
38	chr22:31595000-31602200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr22:31595000-31602400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr22:31595000-31605200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:31595000-31605800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr22:31595200-31599800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:31595200-31599800	Strong transcription	Dnd41	blood
44	chr22:31595200-31600000	Strong transcription	Ovary	ovary
45	chr22:31595200-31601800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:31595200-31602200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:31595200-31602200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:31595200-31603400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:31595200-31603800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr22:31595200-31604400	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links