Variant report

Variant	rs12322695
Chromosome Location	chr12:117199414-117199415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10161190	0.94[ASN][1000 genomes]
rs10437849	1.00[MEX][hapmap]
rs10850709	0.98[ASN][1000 genomes]
rs10850710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850711	1.00[CHB][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10850713	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850714	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10850716	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068171	0.87[ASN][1000 genomes]
rs11068177	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068182	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068184	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068185	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068187	0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068188	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068189	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068190	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068191	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11503182	0.98[ASN][1000 genomes]
rs12231554	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231952	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12296993	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12302528	0.94[ASN][1000 genomes]
rs12305605	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12308877	0.98[ASN][1000 genomes]
rs12309159	0.82[ASN][1000 genomes]
rs12312295	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12314176	0.94[ASN][1000 genomes]
rs12426049	0.86[ASN][1000 genomes]
rs16946996	1.00[TSI][hapmap]
rs16947003	1.00[TSI][hapmap]
rs16947122	1.00[MEX][hapmap]
rs34454980	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56174906	0.94[ASN][1000 genomes]
rs56692573	0.82[ASN][1000 genomes]
rs58367668	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133142	1.00[MEX][hapmap]
rs7137138	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7305313	1.00[MEX][hapmap]
rs7307465	0.84[ASN][1000 genomes]
rs73405110	1.00[EUR][1000 genomes]
rs7978853	1.00[MEX][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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1048004	chr12:117170738-117219076	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv1039046	chr12:117170989-117225635	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
7	chr12:117177400-117225800	Weak transcription	HepG2	liver
8	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
9	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:117189200-117203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:117191200-117221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:117192000-117203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:117192000-117217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117192200-117202800	Weak transcription	Primary B cells from cord blood	blood
17	chr12:117196600-117208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117196600-117217000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:117197400-117200200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:117197600-117199800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:117197800-117199800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:117198000-117199600	Strong transcription	Brain Germinal Matrix	brain
23	chr12:117198000-117204400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:117198000-117213600	Weak transcription	Fetal Kidney	kidney
25	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
26	chr12:117198200-117199600	Strong transcription	Fetal Brain Female	brain
27	chr12:117198200-117202400	Weak transcription	Spleen	Spleen
28	chr12:117198200-117204200	Weak transcription	Dnd41	blood
29	chr12:117198200-117217000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:117198200-117233600	Weak transcription	Fetal Stomach	stomach
31	chr12:117198200-117236600	Weak transcription	A549	lung
32	chr12:117198400-117199800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:117198400-117199800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:117198400-117202200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:117198400-117204200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:117198400-117211600	Weak transcription	Thymus	Thymus
37	chr12:117198400-117217000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:117198400-117217600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:117198600-117199800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:117198600-117202400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:117198600-117205600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:117198600-117213200	Weak transcription	Fetal Intestine Small	intestine
43	chr12:117198600-117223800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr12:117198600-117233600	Weak transcription	Right Atrium	heart
45	chr12:117198800-117199600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr12:117198800-117204400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:117198800-117220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:117199000-117204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:117199200-117199600	Flanking Active TSS	K562	blood
50	chr12:117199200-117199800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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