Variant report

Variant	rs2065794
Chromosome Location	chr1:76745825-76745826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10873874	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11162109	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11162114	0.85[ASN][1000 genomes]
rs12127441	0.85[ASN][1000 genomes]
rs12403092	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1335862	0.88[ASN][1000 genomes]
rs1335863	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1335864	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1360878	0.86[ASN][1000 genomes]
rs1414476	0.85[ASN][1000 genomes]
rs1414479	0.86[ASN][1000 genomes]
rs1414480	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1414481	0.87[ASN][1000 genomes]
rs1414482	0.88[ASN][1000 genomes]
rs1414483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414484	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414487	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1537783	0.85[ASN][1000 genomes]
rs1537784	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1570823	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17098538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067914	0.86[ASN][1000 genomes]
rs2210830	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2210831	0.85[ASN][1000 genomes]
rs2225784	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2225785	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2392035	0.89[EUR][1000 genomes]
rs2392037	0.89[EUR][1000 genomes]
rs34995712	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36115631	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3851267	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3862901	0.86[ASN][1000 genomes]
rs3883995	0.86[ASN][1000 genomes]
rs3891339	0.86[ASN][1000 genomes]
rs3904687	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3920772	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4083857	0.86[ASN][1000 genomes]
rs4086568	0.86[ASN][1000 genomes]
rs4245648	0.85[ASN][1000 genomes]
rs4300269	0.86[ASN][1000 genomes]
rs4480406	0.86[ASN][1000 genomes]
rs4607942	0.86[ASN][1000 genomes]
rs4949700	0.84[ASN][1000 genomes]
rs4949702	0.88[ASN][1000 genomes]
rs4949703	0.87[ASN][1000 genomes]
rs55805865	0.85[ASN][1000 genomes]
rs55813741	0.85[ASN][1000 genomes]
rs6593527	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6593528	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6657540	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6675148	0.84[ASN][1000 genomes]
rs6691694	0.85[ASN][1000 genomes]
rs6695042	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6700436	0.83[ASN][1000 genomes]
rs6702605	0.84[ASN][1000 genomes]
rs7514851	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7516589	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7534588	0.86[ASN][1000 genomes]
rs9437129	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9437395	0.86[ASN][1000 genomes]
rs9437402	0.86[ASN][1000 genomes]
rs9437407	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9437408	0.85[ASN][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
2	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:76744600-76746200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:76745000-76747000	Weak transcription	Fetal Brain Male	brain
5	chr1:76745000-76747000	Weak transcription	Fetal Brain Female	brain
6	chr1:76745000-76749000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:76745200-76747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:76745200-76747000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:76745200-76747000	Weak transcription	Right Atrium	heart
10	chr1:76745200-76747200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:76745400-76747000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:76745400-76747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:76745400-76747000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:76745400-76747000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:76745400-76747000	Weak transcription	Fetal Thymus	thymus
16	chr1:76745400-76747200	Weak transcription	Esophagus	oesophagus
17	chr1:76745400-76750600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:76745400-76751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:76745600-76746800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:76745600-76761000	Weak transcription	Aorta	Aorta
21	chr1:76745800-76746400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:76745800-76747200	Weak transcription	Fetal Stomach	stomach
23	chr1:76745800-76750600	Weak transcription	Fetal Kidney	kidney
24	chr1:76745800-76755400	Weak transcription	Fetal Lung	lung

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