Variant report

Variant	rs2246114
Chromosome Location	chr2:145785442-145785443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145774729..145777688-chr2:145783583..145786278,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10204459	0.84[EUR][1000 genomes]
rs12993495	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12996204	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1347828	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1528412	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528413	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16855349	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1881411	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1898731	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243647	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2243648	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246142	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2246245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249681	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249798	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2249819	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250164	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250518	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2250546	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2579024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718229	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145780600-145787400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145781000-145785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:145781200-145785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:145783000-145787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:145783200-145786800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:145783200-145787200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:145783400-145787200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:145783800-145786600	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:145783800-145787200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:145784000-145786200	Enhancers	Fetal Heart	heart
11	chr2:145784200-145785600	Enhancers	Fetal Lung	lung
12	chr2:145784200-145785600	Enhancers	NHLF	lung
13	chr2:145784400-145787600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:145784400-145787800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:145784800-145785600	Weak transcription	HSMMtube	muscle
16	chr2:145784800-145785800	Enhancers	Osteobl	bone
17	chr2:145785000-145785800	Weak transcription	Ovary	ovary
18	chr2:145785000-145786000	Flanking Active TSS	A549	lung
19	chr2:145785200-145785800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:145785400-145785600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:145785400-145786000	Enhancers	NHDF-Ad	bronchial

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