Variant report

Variant	rs73222787
Chromosome Location	chr12:121090770-121090771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121082536..121084918-chr12:121088940..121091677,2	K562	blood:

Variant related genes	Relation type
ENSG00000157782	Chromatin interaction
ENSG00000256008	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2138250	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3889470	0.81[AMR][1000 genomes]
rs55645249	1.00[AFR][1000 genomes]
rs55874815	0.98[EUR][1000 genomes]
rs55980956	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56175661	0.83[AFR][1000 genomes]
rs56178989	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56183824	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56231343	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56366632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56391085	0.83[AFR][1000 genomes]
rs58235352	0.81[AMR][1000 genomes]
rs73213106	0.88[EUR][1000 genomes]
rs73214885	1.00[AFR][1000 genomes]
rs73222778	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73222784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73225003	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73225012	0.81[AMR][1000 genomes]
rs73225093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73227016	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73227026	1.00[AFR][1000 genomes]
rs73227027	0.83[AFR][1000 genomes]
rs73227029	0.83[AFR][1000 genomes]
rs73227036	0.83[AFR][1000 genomes]
rs73227038	1.00[AFR][1000 genomes]
rs73229118	1.00[AFR][1000 genomes]
rs73229126	1.00[AFR][1000 genomes]
rs73229149	1.00[AFR][1000 genomes]
rs73229157	1.00[AFR][1000 genomes]
rs73229160	1.00[AFR][1000 genomes]
rs73230347	0.84[EUR][1000 genomes]
rs73230349	0.84[EUR][1000 genomes]
rs73230352	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121087200-121091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:121088200-121092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:121089000-121090800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:121089000-121091600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121089000-121092400	Enhancers	Colon Smooth Muscle	Colon
8	chr12:121089200-121090800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:121089400-121090800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:121089400-121091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:121089600-121093000	Enhancers	Adipose Nuclei	Adipose
12	chr12:121089800-121090800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:121089800-121090800	Weak transcription	Psoas Muscle	Psoas
14	chr12:121089800-121090800	Bivalent Enhancer	NHDF-Ad	bronchial
15	chr12:121089800-121091000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:121089800-121095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121090000-121091200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:121090000-121092800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr12:121090000-121097000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:121090200-121091000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr12:121090200-121093000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:121090400-121090800	Enhancers	Right Atrium	heart
24	chr12:121090400-121091000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:121090400-121091000	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr12:121090400-121091200	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:121090400-121091200	Enhancers	Brain Hippocampus Middle	brain
28	chr12:121090400-121093000	Enhancers	Placenta	Placenta
29	chr12:121090400-121093000	Enhancers	Left Ventricle	heart
30	chr12:121090600-121090800	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr12:121090600-121090800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr12:121090600-121090800	Enhancers	Right Ventricle	heart
33	chr12:121090600-121090800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr12:121090600-121091000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:121090600-121091000	Enhancers	Brain Anterior Caudate	brain
36	chr12:121090600-121091000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr12:121090600-121092000	Enhancers	GM12878-XiMat	blood
38	chr12:121090600-121093000	Enhancers	Spleen	Spleen

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