Variant report

Variant	rs2404994
Chromosome Location	chr1:57123148-57123149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10749708	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10789038	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10789040	0.80[AMR][1000 genomes]
rs10889006	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10889008	0.81[AMR][1000 genomes]
rs11206885	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11206888	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11206889	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11206890	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11206895	0.81[AMR][1000 genomes]
rs1124900	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11804779	0.81[AMR][1000 genomes]
rs12072057	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12073311	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12092267	0.80[AMR][1000 genomes]
rs12097148	0.80[AMR][1000 genomes]
rs12738355	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2064421	0.80[AMR][1000 genomes]
rs2064422	0.80[AMR][1000 genomes]
rs2245475	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2404718	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2746338	0.80[AMR][1000 genomes]
rs2746339	0.80[AMR][1000 genomes]
rs2746345	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2746348	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2746349	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2746353	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2796493	0.80[AMR][1000 genomes]
rs2796495	0.80[AMR][1000 genomes]
rs2796496	0.80[AMR][1000 genomes]
rs2796498	0.80[AMR][1000 genomes]
rs2796517	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2796519	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2796523	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2796527	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2796534	0.80[AMR][1000 genomes]
rs2796541	0.81[AMR][1000 genomes]
rs4551620	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6588641	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6588643	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6683935	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs715404	0.80[AMR][1000 genomes]
rs715405	0.80[AMR][1000 genomes]
rs7547486	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs963528	0.80[AMR][1000 genomes]
rs9887834	0.80[AMR][1000 genomes]
rs9887940	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57120000-57126600	Weak transcription	Right Ventricle	heart
2	chr1:57120000-57132800	Weak transcription	Right Atrium	heart
3	chr1:57121600-57125400	Weak transcription	Aorta	Aorta
4	chr1:57122400-57129200	Weak transcription	Psoas Muscle	Psoas
5	chr1:57122600-57124000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:57122800-57123200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:57122800-57123200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:57122800-57123400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:57122800-57123400	Weak transcription	Fetal Heart	heart
10	chr1:57122800-57125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:57122800-57125400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:57122800-57126600	Weak transcription	Left Ventricle	heart
13	chr1:57122800-57128600	Weak transcription	HepG2	liver
14	chr1:57122800-57169600	Weak transcription	Ovary	ovary
15	chr1:57123000-57131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:57123000-57141800	Weak transcription	Hela-S3	cervix
17	chr1:57123000-57142000	Weak transcription	A549	lung
18	chr1:57123000-57143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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