Variant report

Variant	rs73405293
Chromosome Location	chr12:117522917-117522918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117522745..117531514-chr12:117533680..117541602,11	K562	blood:
2	chr12:117521637..117523408-chr12:117528244..117530881,2	MCF-7	breast:
3	chr12:117522325..117524355-chr12:117524708..117526687,2	K562	blood:
4	chr12:117507312..117509184-chr12:117522050..117524792,2	K562	blood:

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

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

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

rs_ID	r²[population]
rs11068325	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231268	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12301568	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12315321	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2173650	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28384207	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58052341	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490108	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134123	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305834	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73408527	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:117515000-117524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:117515400-117523000	Weak transcription	Gastric	stomach
5	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
6	chr12:117515400-117528600	Weak transcription	K562	blood
7	chr12:117520200-117524000	Enhancers	Fetal Heart	heart
8	chr12:117520800-117524000	Enhancers	Pancreas	Pancrea
9	chr12:117520800-117526200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:117521000-117527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:117521400-117523400	Weak transcription	Dnd41	blood
12	chr12:117521600-117523000	Weak transcription	Stomach Mucosa	stomach
13	chr12:117521600-117523200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:117521600-117524800	Weak transcription	A549	lung
15	chr12:117521600-117530400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:117522000-117523000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:117522200-117523000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:117522200-117523600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:117522200-117523600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:117522200-117525200	Enhancers	Left Ventricle	heart
21	chr12:117522200-117525200	Enhancers	Right Ventricle	heart
22	chr12:117522400-117523000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117522400-117523400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:117522400-117525200	Enhancers	Brain Anterior Caudate	brain
25	chr12:117522400-117527000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:117522600-117524000	Enhancers	Fetal Thymus	thymus
27	chr12:117522800-117523000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:117522800-117523400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:117522800-117525000	Genic enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links