Variant report

Variant	rs12221889
Chromosome Location	chr11:92880279-92880280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:92880152-92880492	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:92880220-92880370	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
ENSG00000255445	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10830986	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10830987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10830990	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10830992	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10830993	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10830995	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10830997	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10830999	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10831000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10831001	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10831002	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10831007	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11020180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020183	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020189	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11020190	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020192	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020196	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020197	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11020198	0.83[ASN][1000 genomes]
rs11020199	0.82[ASN][1000 genomes]
rs11020200	0.82[ASN][1000 genomes]
rs11020207	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11020208	0.83[ASN][1000 genomes]
rs12365990	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16918625	0.94[ASN][1000 genomes]
rs16918677	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2121467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166583	0.84[ASN][1000 genomes]
rs2399605	0.82[ASN][1000 genomes]
rs3758676	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3943572	0.86[ASN][1000 genomes]
rs3957618	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4753437	0.84[ASN][1000 genomes]
rs4753438	0.82[ASN][1000 genomes]
rs4753439	0.82[ASN][1000 genomes]
rs58121936	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67573258	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121033	0.82[ASN][1000 genomes]
rs7121713	0.83[ASN][1000 genomes]
rs7933585	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933922	0.82[ASN][1000 genomes]
rs7936669	0.80[ASN][1000 genomes]
rs7936931	0.82[ASN][1000 genomes]
rs935447	0.83[ASN][1000 genomes]
rs935448	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555904	chr11:92640787-92881933	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv435	chr11:92853766-92887893	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92862800-92880400	Weak transcription	Aorta	Aorta
2	chr11:92867200-92896400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:92868000-92889000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:92874000-92880400	Weak transcription	NH-A	brain
6	chr11:92875000-92892800	Weak transcription	Primary B cells from cord blood	blood
7	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:92876600-92880400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:92876600-92883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:92876600-92885000	Weak transcription	Fetal Lung	lung
12	chr11:92876600-92885200	Weak transcription	Primary T cells from cord blood	blood
13	chr11:92876600-92900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:92876800-92910600	Weak transcription	Lung	lung
16	chr11:92877000-92890400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:92877000-92911400	Weak transcription	Osteobl	bone
18	chr11:92877200-92890000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:92877200-92894800	Weak transcription	HSMM	muscle
20	chr11:92877800-92899600	Weak transcription	NHLF	lung
21	chr11:92877800-92915000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:92878000-92894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:92878200-92888200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:92878400-92880800	Weak transcription	Hela-S3	cervix
25	chr11:92878400-92887400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:92878400-92910600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:92878600-92890800	Weak transcription	Left Ventricle	heart
28	chr11:92878800-92881000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:92878800-92889200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:92878800-92890600	Weak transcription	Dnd41	blood
31	chr11:92878800-92893200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:92878800-92895800	Weak transcription	Brain Germinal Matrix	brain
33	chr11:92878800-92896000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:92879000-92880800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:92879000-92889200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:92879000-92896600	Weak transcription	Ovary	ovary
37	chr11:92879000-92900200	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:92879000-92910800	Weak transcription	HSMMtube	muscle
39	chr11:92879200-92890200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:92879200-92890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:92879200-92892600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:92879200-92896600	Weak transcription	Fetal Brain Female	brain
43	chr11:92879400-92885200	Weak transcription	Liver	Liver
44	chr11:92879600-92882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:92879600-92889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:92879600-92890000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:92879600-92910000	Weak transcription	Fetal Brain Male	brain
48	chr11:92879600-92910800	Weak transcription	HMEC	breast
49	chr11:92880000-92882000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:92880000-92882600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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