Variant report

Variant	rs11068325
Chromosome Location	chr12:117525069-117525070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117522745..117531514-chr12:117533680..117541602,11	K562	blood:
2	chr12:117522325..117524355-chr12:117524708..117526687,2	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]
rs12231268	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12301568	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12315321	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173650	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28384207	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58052341	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6490108	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7134123	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305834	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73405293	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73408527	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
3	chr12:117515400-117528600	Weak transcription	K562	blood
4	chr12:117520800-117526200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:117521000-117527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:117521600-117530400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:117522200-117525200	Enhancers	Left Ventricle	heart
8	chr12:117522200-117525200	Enhancers	Right Ventricle	heart
9	chr12:117522400-117525200	Enhancers	Brain Anterior Caudate	brain
10	chr12:117522400-117527000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:117523800-117527400	Weak transcription	Dnd41	blood
12	chr12:117524000-117526600	Weak transcription	Stomach Mucosa	stomach
13	chr12:117524000-117528400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:117524400-117526800	Enhancers	Pancreas	Pancrea
15	chr12:117524600-117525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:117524600-117525200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:117524600-117525400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:117524600-117525400	Enhancers	Stomach Smooth Muscle	stomach
19	chr12:117524600-117525600	Enhancers	Gastric	stomach
20	chr12:117524600-117526000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:117524800-117525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:117524800-117525200	Enhancers	A549	lung
23	chr12:117524800-117525400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:117524800-117525400	Enhancers	Fetal Heart	heart
25	chr12:117525000-117526600	Weak transcription	Right Atrium	heart
26	chr12:117525000-117528400	Enhancers	HepG2	liver

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