Variant report

Variant	rs7718596
Chromosome Location	chr5:8059187-8059188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1023853	0.83[ASN][1000 genomes]
rs11739022	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11740013	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742127	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742299	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742306	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742958	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11743341	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11746306	0.94[ASN][1000 genomes]
rs11746322	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11749511	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156447	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156466	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156473	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13157813	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13159876	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13160786	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13160818	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13161816	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13181149	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13183355	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13183364	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13183365	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13183531	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13185424	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16879727	0.84[ASN][1000 genomes]
rs17268712	0.94[ASN][1000 genomes]
rs2924471	0.83[ASN][1000 genomes]
rs2961995	0.84[ASN][1000 genomes]
rs34108417	0.84[ASN][1000 genomes]
rs34293407	0.84[ASN][1000 genomes]
rs34410484	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34602647	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34929832	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35029095	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35047355	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35048331	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35177434	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35264036	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35327167	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35619107	0.94[ASN][1000 genomes]
rs35639375	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35900324	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35970526	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35997483	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4293881	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4295358	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869783	0.94[ASN][1000 genomes]
rs6883198	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6883798	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884115	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893120	0.81[ASN][1000 genomes]
rs6896921	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71606018	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71606019	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71606020	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71606022	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1020991	chr5:8014412-8129558	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8056400-8060800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:8056600-8059200	Enhancers	Ovary	ovary
3	chr5:8057600-8059400	Enhancers	Fetal Muscle Leg	muscle
4	chr5:8057800-8059200	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:8058000-8059200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:8058200-8059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:8058200-8060800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:8058200-8061800	Weak transcription	Spleen	Spleen
9	chr5:8058400-8060200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:8058400-8060600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:8058400-8060800	Weak transcription	Brain Germinal Matrix	brain
12	chr5:8058400-8062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:8059000-8059200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:8059000-8060000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:8059000-8060800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:8059000-8061200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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