Variant report

Variant	rs12294777
Chromosome Location	chr11:66990372-66990373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66988845..66990484-chr11:67000195..67002705,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10128545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	1.00[AMR][1000 genomes]
rs11227704	1.00[AMR][1000 genomes]
rs11227705	1.00[AMR][1000 genomes]
rs11227708	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227734	1.00[AMR][1000 genomes]
rs11227739	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227741	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227749	1.00[AMR][1000 genomes]
rs11227754	1.00[AMR][1000 genomes]
rs11501507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	1.00[AMR][1000 genomes]
rs12274690	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275826	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12282851	1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284445	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284546	0.84[AFR][1000 genomes]
rs12285582	1.00[AMR][1000 genomes]
rs12286106	1.00[AMR][1000 genomes]
rs12286762	1.00[AMR][1000 genomes]
rs12287003	1.00[AMR][1000 genomes]
rs12287355	1.00[AMR][1000 genomes]
rs12290300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293258	1.00[AMR][1000 genomes]
rs3730309	1.00[AMR][1000 genomes]
rs3730310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4370946	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61758504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	1.00[AMR][1000 genomes]
rs7128315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7478885	1.00[AMR][1000 genomes]
rs7928575	1.00[AMR][1000 genomes]
rs7945629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948988	0.83[AFR][1000 genomes];1.00[AMR][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
2	chr11:66954600-66993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
4	chr11:66962200-66999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66962600-66995000	Weak transcription	Psoas Muscle	Psoas
6	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:66974600-66993000	Strong transcription	Dnd41	blood
11	chr11:66974600-66993200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:66974600-66993400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:66974800-66997600	Strong transcription	Fetal Thymus	thymus
14	chr11:66975000-66993200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:66976400-66993000	Strong transcription	Osteobl	bone
16	chr11:66980400-67002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66980800-67005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:66981000-67003800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:66981600-67005200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:66981800-67006400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:66982000-66991800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:66982000-66993200	Strong transcription	GM12878-XiMat	blood
23	chr11:66982000-66997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:66982000-67005800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:66982200-66992000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:66982200-66993200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:66982400-66991800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:66982400-67003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:66982600-66992400	Strong transcription	Primary B cells from cord blood	blood
30	chr11:66982800-66992800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:66982800-66993000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:66982800-66993600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr11:66982800-67002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:66982800-67002600	Strong transcription	Adipose Nuclei	Adipose
35	chr11:66983800-66995200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:66984600-66993000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:66985200-66994400	Weak transcription	K562	blood
38	chr11:66985400-66991000	Weak transcription	Esophagus	oesophagus
39	chr11:66985800-66991000	Weak transcription	Colonic Mucosa	Colon
40	chr11:66985800-66995000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:66986200-66994800	Weak transcription	HUVEC	blood vessel
42	chr11:66986800-66991000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:66986800-66991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:66986800-66991400	Weak transcription	A549	lung
45	chr11:66987000-66995200	Weak transcription	NHEK	skin
46	chr11:66987000-67006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:66987200-66990800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:66987200-66991200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:66987200-66994600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:66987200-66994600	Weak transcription	Fetal Lung	lung

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