Variant report

Variant	rs73283566
Chromosome Location	chr12:12151705-12151706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57170747	0.87[AFR][1000 genomes]
rs61086864	0.89[AFR][1000 genomes]
rs73283586	0.80[AFR][1000 genomes]
rs73283588	0.80[AFR][1000 genomes]
rs73283590	0.80[AFR][1000 genomes]
rs73285710	0.85[AFR][1000 genomes]
rs73285715	0.89[AFR][1000 genomes]
rs73285733	0.85[AFR][1000 genomes]
rs73285757	0.84[AFR][1000 genomes]
rs73285771	0.84[AFR][1000 genomes]
rs73285773	0.84[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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12146800-12161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12148400-12155400	Weak transcription	Right Atrium	heart
3	chr12:12149400-12152000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:12150400-12151800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:12150600-12151800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:12150600-12151800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:12150600-12153200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:12150800-12153000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:12150800-12153000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:12150800-12153200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:12150800-12153200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:12151000-12153200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:12151200-12152000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr12:12151200-12152200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:12151200-12152400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:12151400-12152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:12151400-12152200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:12151400-12152200	Enhancers	Primary T cells from cord blood	blood
19	chr12:12151400-12152200	Enhancers	Thymus	Thymus
20	chr12:12151400-12152200	Enhancers	Dnd41	blood
21	chr12:12151400-12152200	Enhancers	NHEK	skin
22	chr12:12151400-12152400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:12151600-12152000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:12151600-12152200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:12151600-12152200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr12:12151600-12152200	Enhancers	Fetal Thymus	thymus
27	chr12:12151600-12152200	Enhancers	Osteobl	bone
28	chr12:12151600-12152400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:12151600-12152400	Enhancers	HMEC	breast

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