Variant report

Variant	rs11054584
Chromosome Location	chr12:12134400-12134401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10743972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743974	0.91[ASN][1000 genomes]
rs10772521	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772523	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845441	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845442	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845443	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10845444	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11054589	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12367002	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3983830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4375516	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7313719	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7315674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971902	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7972254	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898805	chr12:12119414-12156322	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19512	chr12:12130988-12147206	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12128800-12134400	Weak transcription	Right Atrium	heart
2	chr12:12130400-12137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:12131000-12135600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:12131000-12135600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:12131600-12134400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:12131600-12135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:12131600-12135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:12131600-12135600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:12131800-12134400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:12132200-12139200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:12132400-12135400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:12132600-12135400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:12132800-12135000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:12132800-12135400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:12133000-12135000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:12133000-12135600	Enhancers	Primary T cells from cord blood	blood
17	chr12:12133200-12134400	Weak transcription	Thymus	Thymus
18	chr12:12133200-12135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:12133400-12134400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:12133600-12134400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:12133600-12134800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:12133600-12137000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:12133800-12135400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:12134000-12134400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:12134000-12134400	Enhancers	GM12878-XiMat	blood
26	chr12:12134000-12134400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:12134000-12134600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:12134000-12134600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:12134000-12135000	Enhancers	NHEK	skin
30	chr12:12134200-12134600	Flanking Active TSS	Dnd41	blood
31	chr12:12134200-12134600	Flanking Active TSS	HSMM	muscle
32	chr12:12134200-12134600	Enhancers	NH-A	brain
33	chr12:12134200-12134800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:12134200-12134800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:12134200-12134800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:12134200-12134800	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:12134200-12134800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:12134200-12134800	Flanking Active TSS	Osteobl	bone
39	chr12:12134200-12135200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:12134400-12134600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:12134400-12134600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:12134400-12134600	Enhancers	Psoas Muscle	Psoas
43	chr12:12134400-12134600	Enhancers	Right Atrium	heart
44	chr12:12134400-12134800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:12134400-12134800	Enhancers	Adipose Nuclei	Adipose
46	chr12:12134400-12134800	Enhancers	Thymus	Thymus
47	chr12:12134400-12134800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr12:12134400-12135200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:12134400-12135200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:12134400-12135200	Enhancers	Fetal Thymus	thymus

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