Variant report

Variant	rs2600929
Chromosome Location	chr12:42918860-42918861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42911189..42915377-chr12:42915920..42919957,5	K562	blood:

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

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

rs_ID	r²[population]
rs1629471	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1669883	1.00[EUR][1000 genomes]
rs1669942	0.97[EUR][1000 genomes]
rs1669948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2600933	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2600934	0.97[EUR][1000 genomes]
rs2708080	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs721722	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73277824	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
2	chr12:42901600-42940200	Weak transcription	Ovary	ovary
3	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42913800-42957600	Weak transcription	HMEC	breast
6	chr12:42914000-42940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
8	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:42915000-42928000	Weak transcription	Left Ventricle	heart
10	chr12:42916600-42920600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:42917000-42919200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:42917200-42921000	Strong transcription	HSMM	muscle
13	chr12:42917400-42919400	Strong transcription	Osteobl	bone
14	chr12:42917600-42920200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:42917600-42928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:42917800-42919200	Strong transcription	HSMMtube	muscle
17	chr12:42918200-42919200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:42918400-42919000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:42918600-42919200	Genic enhancers	Fetal Heart	heart
20	chr12:42918600-42919400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:42918600-42919400	Strong transcription	Fetal Stomach	stomach
22	chr12:42918600-42919600	Genic enhancers	NH-A	brain
23	chr12:42918800-42919200	Weak transcription	HUVEC	blood vessel
24	chr12:42918800-42920600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:42918800-42920600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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