Variant report

Variant	rs73213106
Chromosome Location	chr12:121080253-121080254
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121079422..121081795-chr12:121123452..121125131,2	K562	blood:
2	chr12:120729224..120730765-chr12:121078974..121080739,2	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	1.00[ASN][1000 genomes]
rs2233673	1.00[ASN][1000 genomes]
rs34815312	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55645249	1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56178989	1.00[ASN][1000 genomes]
rs56183824	1.00[ASN][1000 genomes]
rs56231343	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73214885	1.00[ASN][1000 genomes]
rs73222778	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	0.88[EUR][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73227016	1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	1.00[ASN][1000 genomes]
rs73229118	1.00[ASN][1000 genomes]
rs73229126	1.00[ASN][1000 genomes]
rs73229149	1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[ASN][1000 genomes]
rs73229160	1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230349	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230352	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121079000-121080400	Bivalent Enhancer	Fetal Brain Male	brain
2	chr12:121079400-121080400	Bivalent Enhancer	Esophagus	oesophagus
3	chr12:121079400-121081200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:121079600-121080400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121079600-121080400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr12:121079600-121080400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:121079600-121080600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:121079600-121086800	Weak transcription	Right Atrium	heart
9	chr12:121079800-121080400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr12:121079800-121080400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:121079800-121080400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:121079800-121080400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
13	chr12:121079800-121080400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr12:121079800-121080400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr12:121079800-121080600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr12:121079800-121082000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr12:121080000-121080600	Bivalent Enhancer	Fetal Brain Female	brain
18	chr12:121080200-121080400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr12:121080200-121080400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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