Variant report

Variant	rs68124742
Chromosome Location	chr7:137154001-137154002
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	GATA2	chr7:137153976-137154303	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
DGKI	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10228926	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10235650	0.97[EUR][1000 genomes]
rs10236626	0.95[EUR][1000 genomes]
rs10236885	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10249961	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10250999	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10257221	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10264765	0.95[EUR][1000 genomes]
rs10268873	0.95[EUR][1000 genomes]
rs10268889	0.95[EUR][1000 genomes]
rs10276002	0.95[EUR][1000 genomes]
rs10480523	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12707360	0.98[EUR][1000 genomes]
rs13242243	0.94[EUR][1000 genomes]
rs1406088	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1528099	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1528100	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1852641	0.95[EUR][1000 genomes]
rs28434741	0.97[EUR][1000 genomes]
rs28491569	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28573283	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34395849	0.98[EUR][1000 genomes]
rs35080869	0.98[EUR][1000 genomes]
rs35470018	0.95[EUR][1000 genomes]
rs35481034	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36125942	0.95[EUR][1000 genomes]
rs6467704	0.98[EUR][1000 genomes]
rs6467705	0.95[EUR][1000 genomes]
rs6467706	0.90[EUR][1000 genomes]
rs6467707	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67112765	0.95[EUR][1000 genomes]
rs6950579	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6951059	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6971080	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7341469	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7341533	0.95[EUR][1000 genomes]
rs7779526	0.97[EUR][1000 genomes]
rs7788161	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7802865	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7807425	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9655902	0.93[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	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137139800-137165000	Weak transcription	Fetal Brain Female	brain
2	chr7:137147800-137160600	Weak transcription	NH-A	brain
3	chr7:137148000-137160400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:137148200-137161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:137148400-137160400	Weak transcription	HSMMtube	muscle
6	chr7:137148400-137160800	Weak transcription	HSMM	muscle
7	chr7:137148600-137206400	Weak transcription	Aorta	Aorta
8	chr7:137149600-137160600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:137149600-137161600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:137150800-137160600	Weak transcription	Osteobl	bone
11	chr7:137151200-137160800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:137152000-137159400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:137152000-137179400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:137153400-137156000	Enhancers	Fetal Heart	heart
15	chr7:137153600-137154600	Enhancers	HUVEC	blood vessel
16	chr7:137154000-137154200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:137154000-137154400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:137154000-137154400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:137154000-137154600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:137154000-137155000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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