Variant report

Variant	rs12167361
Chromosome Location	chr22:31696278-31696279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31695233..31696902-chr22:31739881..31742693,2	MCF-7	breast:
2	chr22:31688274..31691466-chr22:31695297..31698444,3	K562	blood:
3	chr22:31689966..31691795-chr22:31696089..31697952,2	K562	blood:
4	chr22:31685153..31687311-chr22:31695879..31698536,2	K562	blood:
5	chr22:31693951..31696638-chr22:31709561..31711095,2	MCF-7	breast:
6	chr22:31685491..31688592-chr22:31694891..31698281,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11703927	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12166373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13056815	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13057841	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs131200	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131202	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131209	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131213	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131219	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs140074	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs140077	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2009132	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2013254	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413048	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28523714	0.84[EUR][1000 genomes]
rs28715	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28813120	0.93[EUR][1000 genomes]
rs34873968	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4820045	0.86[EUR][1000 genomes]
rs4820961	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820969	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753558	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753576	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997900	0.82[EUR][1000 genomes]
rs5997909	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997919	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997929	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997932	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997938	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997960	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997971	0.81[EUR][1000 genomes]
rs713947	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7285171	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7287402	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7288643	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7288735	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7289189	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7289337	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs739427	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8141987	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8143002	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9606835	0.87[EUR][1000 genomes]
rs9619187	0.99[EUR][1000 genomes]
rs9621216	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9621221	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9621227	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	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
2	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
3	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12167361	SFI1	cis	Thyroid	GTEx
rs12167361	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31689000-31696400	Weak transcription	HepG2	liver
2	chr22:31689200-31696400	Weak transcription	Liver	Liver
3	chr22:31689200-31696400	Weak transcription	Right Atrium	heart
4	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
5	chr22:31690200-31704200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
7	chr22:31692800-31697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:31692800-31698400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:31693000-31697800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:31693200-31696400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:31693200-31697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:31693400-31696400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:31693400-31696400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:31693400-31697000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr22:31693400-31700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:31693400-31702400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:31693800-31696800	Weak transcription	Small Intestine	intestine
19	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:31694000-31700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:31694200-31696400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr22:31694200-31696400	Weak transcription	Fetal Intestine Large	intestine
23	chr22:31694200-31696400	Weak transcription	Fetal Intestine Small	intestine
24	chr22:31694200-31697800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr22:31694200-31702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:31694400-31696400	Weak transcription	Ovary	ovary
27	chr22:31694600-31698000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr22:31695000-31703000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:31695600-31696800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr22:31695600-31697200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:31695600-31697800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr22:31695800-31700000	Weak transcription	Primary T cells from cord blood	blood
33	chr22:31696000-31696400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:31696200-31697000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr22:31696200-31697000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:31696200-31698000	Enhancers	Adipose Nuclei	Adipose

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