Variant report

Variant	rs5753495
Chromosome Location	chr22:31567146-31567147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11089493	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs12484282	0.85[AMR][1000 genomes]
rs17820958	0.93[JPT][hapmap]
rs2057951	0.93[JPT][hapmap]
rs2073856	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs2073859	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2073860	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs2073861	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2074734	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs2240424	0.93[JPT][hapmap]
rs2240427	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2267168	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs2283882	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs2899161	0.93[JPT][hapmap]
rs3761430	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs5749222	0.81[JPT][hapmap]
rs5749225	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes]
rs5749236	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5749240	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5749252	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5749255	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753485	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes]
rs5753494	0.95[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes]
rs5753502	0.85[AMR][1000 genomes]
rs5753509	0.82[CHB][hapmap]
rs5753511	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753516	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753519	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs5753525	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs5753526	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5753527	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753535	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753566	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753572	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs5753574	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs57775002	0.85[AMR][1000 genomes]
rs5997893	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs5997921	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5997959	0.93[JPT][hapmap]
rs713619	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs7286926	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs7292620	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs8135417	0.80[JPT][hapmap]
rs874356	0.82[JPT][hapmap]
rs878718	0.80[CHB][hapmap]
rs9619178	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs9621212	0.95[CHB][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
4	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:31557400-31569200	Weak transcription	A549	lung
8	chr22:31557400-31575000	Weak transcription	Gastric	stomach
9	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
13	chr22:31557600-31578600	Weak transcription	K562	blood
14	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:31557800-31568800	Weak transcription	Hela-S3	cervix
16	chr22:31557800-31569400	Weak transcription	Ovary	ovary
17	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:31558200-31573000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:31558200-31575000	Weak transcription	Stomach Mucosa	stomach
22	chr22:31558400-31568800	Weak transcription	HMEC	breast
23	chr22:31558400-31569200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:31558400-31573000	Weak transcription	Fetal Heart	heart
25	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr22:31558800-31568800	Weak transcription	Small Intestine	intestine
28	chr22:31558800-31572800	Weak transcription	Brain Germinal Matrix	brain
29	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
30	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:31559600-31568400	Weak transcription	NHLF	lung
32	chr22:31559600-31572800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr22:31559600-31575000	Weak transcription	Pancreas	Pancrea
34	chr22:31560800-31569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:31561800-31569000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:31562000-31569200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr22:31562000-31573000	Weak transcription	Fetal Brain Female	brain
38	chr22:31562000-31573200	Weak transcription	HepG2	liver
39	chr22:31562000-31575600	Weak transcription	Fetal Kidney	kidney
40	chr22:31562400-31568000	Weak transcription	Primary B cells from cord blood	blood
41	chr22:31562400-31568800	Weak transcription	NH-A	brain
42	chr22:31562400-31569000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr22:31562400-31572000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:31562400-31572200	Weak transcription	Thymus	Thymus
45	chr22:31562400-31583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:31562600-31568800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:31562600-31578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:31563000-31572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr22:31563000-31577400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:31563600-31568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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