Variant report

Variant	rs12301988
Chromosome Location	chr12:117255655-117255656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117239479..117242263-chr12:117253396..117256340,3	K562	blood:
2	chr12:117255552..117257189-chr12:117266755..117268584,2	K562	blood:
3	chr12:117242162..117243909-chr12:117254243..117257229,2	K562	blood:
4	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
5	chr12:117249993..117252950-chr12:117255244..117258293,4	MCF-7	breast:
6	chr12:117255625..117260515-chr12:117260953..117265280,7	K562	blood:
7	chr12:117251777..117254967-chr12:117255465..117258181,5	MCF-7	breast:
8	chr12:117175650..117178418-chr12:117255455..117257271,2	MCF-7	breast:
9	chr12:117255053..117257426-chr12:117349302..117351380,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135119	Chromatin interaction
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10774888	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850718	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850719	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850724	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12815898	0.89[EUR][1000 genomes]
rs1603327	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767457	0.90[ASN][1000 genomes]
rs7313014	0.87[EUR][1000 genomes]
rs7314211	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs924079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:117238000-117256200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:117238000-117256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:117242000-117256200	Weak transcription	GM12878-XiMat	blood
13	chr12:117242200-117256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:117247000-117255800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:117247000-117256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:117247200-117256000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:117248200-117256200	Weak transcription	Brain Germinal Matrix	brain
18	chr12:117249000-117256200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:117249400-117256200	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:117251200-117256000	Weak transcription	HepG2	liver
21	chr12:117251200-117256200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:117251400-117256200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:117251800-117255800	Enhancers	Primary B cells from cord blood	blood
24	chr12:117251800-117256000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117252800-117256200	Weak transcription	Placenta	Placenta
26	chr12:117254200-117256200	Weak transcription	Spleen	Spleen
27	chr12:117254200-117256600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:117254400-117256400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:117255200-117255800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:117255200-117256200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:117255200-117256200	Enhancers	Dnd41	blood
32	chr12:117255400-117256000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:117255400-117256000	Enhancers	K562	blood
34	chr12:117255400-117256200	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:117255600-117256200	Enhancers	Primary T cells from cord blood	blood
36	chr12:117255600-117256200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:117255600-117256200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:117255600-117256600	Enhancers	Fetal Heart	heart
39	chr12:117255600-117256800	Flanking Active TSS	Thymus	Thymus
40	chr12:117255600-117257000	Flanking Active TSS	Fetal Thymus	thymus

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