Variant report

Variant	rs11068315
Chromosome Location	chr12:117510552-117510553
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	chr12:117501229..117502760-chr12:117508705..117510581,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11068283	0.86[CEU][hapmap]
rs11068323	0.85[CEU][hapmap]
rs1472524	1.00[AFR][1000 genomes]
rs4766826	1.00[AFR][1000 genomes]
rs4766827	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117498800-117514600	Strong transcription	HepG2	liver
2	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:117499600-117512400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:117501600-117514800	Weak transcription	Spleen	Spleen
6	chr12:117502000-117510600	Weak transcription	Thymus	Thymus
7	chr12:117502400-117514600	Weak transcription	Primary T cells from cord blood	blood
8	chr12:117502800-117515000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:117503000-117514600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:117503200-117515000	Weak transcription	Stomach Mucosa	stomach
11	chr12:117505400-117514800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:117505800-117514800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:117508000-117515000	Weak transcription	K562	blood
14	chr12:117508200-117514200	Weak transcription	Right Atrium	heart
15	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:117508400-117512600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:117508400-117513200	Weak transcription	Left Ventricle	heart
18	chr12:117508600-117514400	Weak transcription	Fetal Thymus	thymus
19	chr12:117508600-117514600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:117508600-117520200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:117509000-117510800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117509000-117513000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:117509200-117510800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:117509400-117510800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:117509400-117511600	Strong transcription	Gastric	stomach
26	chr12:117509400-117513400	Strong transcription	Dnd41	blood
27	chr12:117509400-117514000	Weak transcription	Fetal Heart	heart
28	chr12:117509400-117514000	Weak transcription	Pancreas	Pancrea
29	chr12:117509400-117514200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:117509800-117511600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:117509800-117513400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:117509800-117514400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:117509800-117514600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:117509800-117521000	Weak transcription	A549	lung
35	chr12:117510000-117513400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:117510000-117514200	Weak transcription	Right Ventricle	heart
37	chr12:117510400-117510800	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links