Variant report

Variant	rs2237122
Chromosome Location	chr6:15492702-15492703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1546851	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049951	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2049952	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2064098	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2064100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2179167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2179168	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs2237111	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237112	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2237114	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237115	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237127	0.81[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237128	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237129	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237130	0.81[JPT][hapmap]
rs2237131	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237134	0.81[JPT][hapmap]
rs2237135	0.81[JPT][hapmap]
rs2237136	0.81[JPT][hapmap]
rs2237137	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2237143	0.81[JPT][hapmap];0.81[MEX][hapmap]
rs2251828	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282818	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282822	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282824	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2299037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299038	0.98[ASN][1000 genomes]
rs2299040	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2299041	0.98[ASN][1000 genomes]
rs35720984	0.91[ASN][1000 genomes]
rs3819398	0.92[ASN][1000 genomes]
rs4712252	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912499	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929454	0.90[ASN][1000 genomes]
rs727734	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs760660	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs7748741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7763809	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs926309	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs9370814	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs9383058	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2237122	SIRT5	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15471000-15502000	Weak transcription	A549	lung
2	chr6:15484800-15496400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:15486800-15502000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:15487200-15508000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:15488800-15493000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:15489200-15495800	Weak transcription	HMEC	breast
7	chr6:15489200-15496200	Weak transcription	Small Intestine	intestine
8	chr6:15489200-15496800	Weak transcription	Colonic Mucosa	Colon
9	chr6:15489200-15504400	Weak transcription	Fetal Brain Female	brain
10	chr6:15489400-15493000	Genic enhancers	Fetal Thymus	thymus
11	chr6:15489400-15493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:15489600-15492800	Genic enhancers	Thymus	Thymus
13	chr6:15489600-15493400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:15489600-15495400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:15489800-15493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:15489800-15495200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:15489800-15495600	Weak transcription	Aorta	Aorta
18	chr6:15490000-15492800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:15490000-15492800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr6:15490000-15493000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:15490000-15494600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:15490000-15495800	Weak transcription	Liver	Liver
23	chr6:15490000-15496200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:15490000-15496400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:15490200-15492800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:15490200-15493000	Enhancers	Primary T cells from cord blood	blood
27	chr6:15490200-15493200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:15490200-15493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:15490200-15495200	Weak transcription	Lung	lung
30	chr6:15490200-15495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:15490200-15495600	Weak transcription	Esophagus	oesophagus
32	chr6:15490200-15496400	Weak transcription	Gastric	stomach
33	chr6:15490200-15496400	Weak transcription	Pancreas	Pancrea
34	chr6:15490400-15493000	Enhancers	Right Ventricle	heart
35	chr6:15490600-15492800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:15490600-15493200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:15490800-15492800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:15490800-15493000	Enhancers	Psoas Muscle	Psoas
39	chr6:15490800-15496800	Enhancers	HSMMtube	muscle
40	chr6:15491000-15495400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:15491200-15493000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:15491200-15495000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:15491400-15492800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:15491400-15492800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:15491400-15493000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr6:15491400-15493000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:15491400-15493400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:15491400-15494600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:15491400-15496200	Enhancers	Ovary	ovary
50	chr6:15491600-15493000	Strong transcription	Dnd41	blood

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