Variant report

Variant	rs11068310
Chromosome Location	chr12:117498686-117498687
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	chr12:117498452..117500621-chr12:117503397..117505307,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10850753	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068245	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11068247	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs11068258	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs11068259	1.00[CEU][hapmap]
rs11068262	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs11068280	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs11068282	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11068286	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11068302	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068303	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12368874	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17583145	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs17616662	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2242469	0.83[JPT][hapmap]
rs2270792	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2270793	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291912	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782189	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782190	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3803089	0.91[JPT][hapmap]
rs4347476	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs59578958	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7136629	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7297446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
2	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:117489600-117500400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:117491600-117500400	Weak transcription	GM12878-XiMat	blood
6	chr12:117494200-117498800	Weak transcription	Primary T cells from cord blood	blood
7	chr12:117494600-117498800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:117494800-117509800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:117495200-117500600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:117495400-117502600	Weak transcription	A549	lung
11	chr12:117495600-117500400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:117496000-117499600	Enhancers	Fetal Heart	heart
13	chr12:117496200-117498800	Weak transcription	Dnd41	blood
14	chr12:117496200-117499400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:117496400-117499000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:117496400-117499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:117496600-117499400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:117496600-117500000	Enhancers	Left Ventricle	heart
19	chr12:117496800-117499000	Enhancers	Brain Germinal Matrix	brain
20	chr12:117497200-117499000	Weak transcription	Spleen	Spleen
21	chr12:117497200-117500400	Weak transcription	Gastric	stomach
22	chr12:117497800-117498800	Enhancers	Fetal Brain Female	brain
23	chr12:117497800-117499000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:117497800-117499200	Enhancers	Fetal Brain Male	brain
25	chr12:117497800-117499600	Enhancers	Right Ventricle	heart
26	chr12:117497800-117500800	Enhancers	Primary B cells from cord blood	blood
27	chr12:117497800-117506000	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:117498000-117498800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:117498000-117498800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr12:117498000-117499000	Enhancers	Esophagus	oesophagus
31	chr12:117498000-117499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:117498000-117499600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:117498000-117499600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:117498000-117499600	Enhancers	K562	blood
35	chr12:117498000-117500600	Enhancers	Fetal Thymus	thymus
36	chr12:117498200-117498800	Enhancers	Adipose Nuclei	Adipose
37	chr12:117498200-117498800	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr12:117498200-117499000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:117498200-117499000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:117498200-117499200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:117498200-117499200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:117498200-117499200	Enhancers	Right Atrium	heart
43	chr12:117498200-117499400	Enhancers	Thymus	Thymus
44	chr12:117498200-117500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:117498400-117498800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:117498400-117498800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr12:117498400-117498800	Bivalent Enhancer	HSMMtube	muscle
48	chr12:117498400-117499000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:117498400-117499000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:117498400-117499000	Weak transcription	Brain Angular Gyrus	brain

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