Variant report

Variant	rs2689838
Chromosome Location	chr2:168236270-168236271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10198766	0.83[AMR][1000 genomes]
rs10930271	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1357604	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1403891	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1403893	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1403896	0.83[AMR][1000 genomes]
rs1523881	0.83[AMR][1000 genomes]
rs1523885	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1523886	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1523887	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1523889	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1880171	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1916744	0.83[AMR][1000 genomes]
rs2140498	0.88[AMR][1000 genomes]
rs2140500	0.83[AMR][1000 genomes]
rs2204278	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2263240	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2617379	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2617380	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2617381	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2689847	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2689849	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2689850	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2689854	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2689855	0.83[AMR][1000 genomes]
rs4130760	0.94[AMR][1000 genomes]
rs4363998	0.83[AMR][1000 genomes]
rs59534092	0.94[AMR][1000 genomes]
rs62194917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6704984	0.83[AMR][1000 genomes]
rs6725171	0.83[AMR][1000 genomes]
rs6729570	0.83[AMR][1000 genomes]
rs6747382	0.88[AMR][1000 genomes]
rs6756997	0.83[AMR][1000 genomes]
rs6759323	0.94[AMR][1000 genomes]
rs6759384	0.83[AMR][1000 genomes]
rs73972274	0.94[AMR][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	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv431790	chr2:168217873-168273530	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168232600-168237400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:168233000-168236400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:168233000-168237200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:168233000-168238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:168235000-168236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:168235400-168236600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:168236000-168236400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:168236000-168237200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:168236000-168237200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:168236200-168236400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:168236200-168236400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:168236200-168236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:168236200-168237000	Enhancers	HUES48 Cell Line	embryonic stem cell

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