Variant report

Variant	rs60818592
Chromosome Location	chr11:93887317-93887318
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	chr11:93866030..93868662-chr11:93884389..93887583,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11822030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825553	0.96[AFR][1000 genomes]
rs11825559	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276417	1.00[EUR][1000 genomes]
rs1518556	1.00[EUR][1000 genomes]
rs1518557	1.00[EUR][1000 genomes]
rs1518558	1.00[EUR][1000 genomes]
rs1518559	1.00[EUR][1000 genomes]
rs16919776	1.00[EUR][1000 genomes]
rs16919850	1.00[EUR][1000 genomes]
rs16919852	1.00[EUR][1000 genomes]
rs16919866	1.00[EUR][1000 genomes]
rs16919972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460043	1.00[EUR][1000 genomes]
rs2511377	1.00[EUR][1000 genomes]
rs58814864	1.00[EUR][1000 genomes]
rs59912573	1.00[AMR][1000 genomes]
rs60464761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102046	1.00[EUR][1000 genomes]
rs7120920	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73512239	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512246	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512249	1.00[AMR][1000 genomes]
rs73512252	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73512253	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73512260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73525500	1.00[AMR][1000 genomes]
rs73555258	1.00[AMR][1000 genomes]
rs73555259	1.00[AMR][1000 genomes]
rs73555263	1.00[AMR][1000 genomes]
rs983327	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93880800-93887400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93881000-93888000	Enhancers	Fetal Intestine Large	intestine
3	chr11:93881400-93887600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:93881400-93889000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:93882400-93887600	Enhancers	Gastric	stomach
6	chr11:93882400-93896800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:93882800-93887600	Enhancers	Stomach Mucosa	stomach
8	chr11:93882800-93889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:93882800-93895400	Weak transcription	Fetal Stomach	stomach
10	chr11:93883000-93887600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:93883000-93887800	Enhancers	Brain Anterior Caudate	brain
12	chr11:93883000-93888600	Weak transcription	Fetal Kidney	kidney
13	chr11:93883000-93906600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:93883200-93889400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:93883200-93892600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:93883400-93889200	Weak transcription	Primary T cells from cord blood	blood
17	chr11:93883400-93906400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:93883600-93888000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:93883600-93888000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:93884000-93887400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:93884000-93887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:93884000-93912800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:93884200-93895200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:93884400-93905400	Weak transcription	Right Ventricle	heart
25	chr11:93885000-93890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:93885200-93916200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:93885400-93887800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:93885400-93887800	Enhancers	NH-A	brain
29	chr11:93885400-93899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:93885400-93911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:93885600-93887600	Enhancers	Fetal Lung	lung
32	chr11:93885800-93887400	Flanking Active TSS	HepG2	liver
33	chr11:93885800-93887600	Strong transcription	Brain Germinal Matrix	brain
34	chr11:93885800-93887600	Enhancers	A549	lung
35	chr11:93885800-93897600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:93886000-93887400	Weak transcription	Colonic Mucosa	Colon
37	chr11:93886000-93888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:93886000-93888600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:93886000-93888800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:93886000-93889200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:93886000-93889200	Weak transcription	Osteobl	bone
42	chr11:93886000-93890200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:93886000-93890800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:93886000-93896600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:93886000-93896800	Weak transcription	Lung	lung
46	chr11:93886000-93903400	Weak transcription	HSMM	muscle
47	chr11:93886000-93905200	Weak transcription	HSMMtube	muscle
48	chr11:93886000-93913000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr11:93886200-93887600	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:93886200-93888400	Weak transcription	Placenta	Placenta

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