Variant report

Variant	rs13427617
Chromosome Location	chr2:145748346-145748347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10168164	0.88[EUR][1000 genomes]
rs10201023	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10210406	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1085418	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10928236	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391247	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13422231	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13427288	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1406118	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1528187	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1550324	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17407958	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1852654	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1881266	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2165022	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2697042	0.87[EUR][1000 genomes]
rs2697046	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2918593	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4662407	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4662408	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4662410	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4662412	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs727241	0.88[EUR][1000 genomes]
rs7589880	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7596337	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs786216	0.94[EUR][1000 genomes]
rs786236	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs786238	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786240	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786259	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786261	0.94[EUR][1000 genomes]
rs809252	0.87[AMR][1000 genomes];0.93[EUR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145746400-145748800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:145747200-145748800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:145747200-145749400	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:145747200-145749400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:145747400-145748800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:145747400-145749200	Enhancers	Brain Substantia Nigra	brain
7	chr2:145747600-145748400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:145747600-145748800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:145747600-145748800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:145747600-145749000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:145747600-145749200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:145747800-145748600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:145747800-145748600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:145747800-145748600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:145747800-145748600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:145747800-145748600	Enhancers	Dnd41	blood
17	chr2:145747800-145748800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:145747800-145749200	Enhancers	Brain Angular Gyrus	brain
19	chr2:145748000-145748600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:145748000-145749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:145748000-145749400	Enhancers	Brain Anterior Caudate	brain
22	chr2:145748200-145748400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:145748200-145748800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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