Variant report

Variant	rs4767445
Chromosome Location	chr12:117192127-117192128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10735095	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735096	1.00[CHB][hapmap]
rs10774887	1.00[CHB][hapmap]
rs10850715	1.00[CHB][hapmap]
rs11068175	1.00[CHB][hapmap]
rs11611604	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2029856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2393084	1.00[CHB][hapmap]
rs2393086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3926590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4468446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486720	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4612912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767446	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767447	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767449	1.00[CHB][hapmap]
rs4767450	1.00[CHB][hapmap]
rs6490086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313399	1.00[CHB][hapmap]
rs7314309	1.00[CHB][hapmap]
rs7953364	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960383	0.91[AFR][1000 genomes]
rs7960408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974175	0.91[ASN][1000 genomes]
rs7980144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[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	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117176600-117197600	Weak transcription	Aorta	Aorta
2	chr12:117176600-117197800	Weak transcription	Right Atrium	heart
3	chr12:117176800-117197600	Weak transcription	Thymus	Thymus
4	chr12:117176800-117217400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:117177000-117209400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:117177000-117217400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:117177000-117224400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:117177200-117197600	Weak transcription	A549	lung
9	chr12:117177200-117216800	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:117177200-117221000	Weak transcription	Fetal Brain Male	brain
11	chr12:117177400-117225800	Weak transcription	HepG2	liver
12	chr12:117177600-117217000	Weak transcription	GM12878-XiMat	blood
13	chr12:117178000-117194400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117179000-117197200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:117179000-117197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:117179000-117217200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:117179600-117198800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:117180800-117197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:117181600-117194200	Strong transcription	Fetal Brain Female	brain
20	chr12:117182800-117197800	Weak transcription	Fetal Stomach	stomach
21	chr12:117182800-117198000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:117186200-117197800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:117187600-117192600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:117188400-117197400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:117188400-117217000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:117188600-117217000	Weak transcription	Brain Anterior Caudate	brain
27	chr12:117189200-117203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:117190200-117197800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:117190400-117198400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:117190600-117192200	Strong transcription	Fetal Thymus	thymus
31	chr12:117191000-117192600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:117191200-117192200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:117191200-117221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:117191400-117192200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:117191400-117192200	Strong transcription	Brain Germinal Matrix	brain
36	chr12:117191600-117192200	Strong transcription	Primary B cells from cord blood	blood
37	chr12:117191800-117197600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:117192000-117196200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:117192000-117197400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:117192000-117197600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:117192000-117197600	Weak transcription	Dnd41	blood
42	chr12:117192000-117199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:117192000-117203200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:117192000-117217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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