Variant report

Variant	rs12165769
Chromosome Location	chr22:30399000-30399001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr22:30398964-30399454	GM12878	blood:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
2	POLR2A	chr22:30398999-30399096	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30392517..30394667-chr22:30396187..30399023,2	MCF-7	breast:

Variant related genes	Relation type
MTMR3	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10222281	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11090591	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090597	0.84[AMR][1000 genomes]
rs11704206	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11704885	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705048	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs11705191	0.81[EUR][1000 genomes]
rs11705207	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705418	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159277	0.80[CHB][hapmap]
rs12166087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12166755	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166998	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12169403	1.00[CEU][hapmap]
rs12169823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330007	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12330076	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627856	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627866	0.80[CHB][hapmap]
rs12627944	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12628395	0.83[ASN][1000 genomes]
rs12628545	0.80[CHB][hapmap]
rs16988049	0.80[CHB][hapmap]
rs16988381	0.86[CHD][hapmap]
rs17644868	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17647135	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17711461	0.80[CHB][hapmap]
rs17711508	0.80[CHB][hapmap]
rs17713646	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520101	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28635872	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34647160	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747148	0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788418	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788425	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285169	0.81[EUR][1000 genomes]
rs7285800	0.80[CHB][hapmap]
rs737905	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737906	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737907	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740116	0.80[CHB][hapmap]
rs916782	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620928	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620929	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620935	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620936	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620944	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9620948	0.84[AMR][1000 genomes]
rs9625883	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625886	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625887	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625889	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625894	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625895	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625896	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625899	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625910	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625914	0.84[AMR][1000 genomes]
rs9625930	0.84[AMR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
6	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30388600-30400800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:30389200-30402600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:30389200-30403000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30389200-30404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30389200-30409200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:30389200-30411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:30389200-30411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr22:30389800-30400600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:30390200-30403200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:30390800-30403000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:30391200-30402800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:30391200-30411400	Weak transcription	Small Intestine	intestine
23	chr22:30391400-30399400	Weak transcription	Brain Substantia Nigra	brain
24	chr22:30391400-30400800	Weak transcription	HSMMtube	muscle
25	chr22:30391400-30402600	Weak transcription	Ovary	ovary
26	chr22:30391400-30403000	Weak transcription	Pancreas	Pancrea
27	chr22:30391400-30403200	Weak transcription	Psoas Muscle	Psoas
28	chr22:30391400-30403600	Weak transcription	Hela-S3	cervix
29	chr22:30391400-30409800	Weak transcription	Fetal Heart	heart
30	chr22:30391400-30411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr22:30391600-30400200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30391600-30400200	Weak transcription	NHLF	lung
34	chr22:30391600-30404000	Weak transcription	Stomach Mucosa	stomach
35	chr22:30391600-30409800	Weak transcription	K562	blood
36	chr22:30391600-30417800	Weak transcription	Right Atrium	heart
37	chr22:30392200-30403000	Weak transcription	HMEC	breast
38	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr22:30392800-30400800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr22:30393800-30400600	Weak transcription	HUVEC	blood vessel
41	chr22:30393800-30401000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr22:30394200-30400400	Weak transcription	Brain Anterior Caudate	brain
44	chr22:30394200-30401000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr22:30394400-30399400	Strong transcription	Fetal Stomach	stomach
46	chr22:30394600-30400400	Strong transcription	Fetal Muscle Leg	muscle
47	chr22:30394600-30401200	Strong transcription	Fetal Lung	lung
48	chr22:30394600-30424600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr22:30394800-30400200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:30394800-30400200	Strong transcription	Liver	Liver

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