Variant report

Variant	rs11614705
Chromosome Location	chr12:12110862-12110863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11614722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020811	0.96[EUR][1000 genomes]
rs35627472	1.00[AFR][1000 genomes]
rs4406908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4433648	1.00[AFR][1000 genomes]
rs73056129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73056193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73056196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73058013	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12100400-12111000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12103400-12112200	Weak transcription	Pancreas	Pancrea
3	chr12:12107200-12111200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:12107400-12111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12107400-12111000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:12107400-12111000	Weak transcription	Fetal Thymus	thymus
7	chr12:12107400-12111400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:12107400-12111800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:12107600-12111600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:12107800-12111400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:12107800-12111600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:12108000-12111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:12108000-12111200	Weak transcription	Dnd41	blood
14	chr12:12108000-12111200	Weak transcription	GM12878-XiMat	blood
15	chr12:12108000-12111600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:12108200-12111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:12108200-12111200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:12110200-12111200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:12110800-12111200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:12110800-12111200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:12110800-12112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:12110800-12112600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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