Variant report

Variant	rs1916747
Chromosome Location	chr2:168186950-168186951
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10186558	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189334	0.86[EUR][1000 genomes]
rs10192896	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10193480	0.85[AFR][1000 genomes]
rs10803821	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10803822	0.86[EUR][1000 genomes]
rs10930264	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930265	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12105767	0.88[EUR][1000 genomes]
rs1357599	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1357602	0.96[ASN][1000 genomes]
rs1403894	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1403900	0.86[EUR][1000 genomes]
rs1403901	0.86[EUR][1000 genomes]
rs1479591	0.81[EUR][1000 genomes]
rs1523878	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1540820	0.86[EUR][1000 genomes]
rs1540821	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1540822	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1581484	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1581485	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1589728	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1608518	0.88[AFR][1000 genomes]
rs1851758	0.89[EUR][1000 genomes]
rs1851759	0.86[EUR][1000 genomes]
rs1851760	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1916742	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1916746	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2103098	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2140501	0.86[EUR][1000 genomes]
rs2177440	0.81[AFR][1000 genomes]
rs2177441	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2177442	0.80[EUR][1000 genomes]
rs2617368	0.86[EUR][1000 genomes]
rs2689823	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2689842	0.91[EUR][1000 genomes]
rs2927600	0.89[EUR][1000 genomes]
rs4538166	0.83[EUR][1000 genomes]
rs57797869	0.83[EUR][1000 genomes]
rs58013803	0.83[EUR][1000 genomes]
rs60102532	0.83[EUR][1000 genomes]
rs61529696	0.83[EUR][1000 genomes]
rs6715974	0.81[EUR][1000 genomes]
rs6716354	0.81[EUR][1000 genomes]
rs6726067	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6744215	0.81[EUR][1000 genomes]
rs6747157	0.81[EUR][1000 genomes]
rs6749022	0.81[EUR][1000 genomes]
rs6749144	0.81[EUR][1000 genomes]
rs73012072	0.81[EUR][1000 genomes]
rs73972228	0.83[EUR][1000 genomes]
rs73972230	0.83[EUR][1000 genomes]
rs7578175	0.81[EUR][1000 genomes]
rs7593641	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7594496	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7604377	0.81[EUR][1000 genomes]
rs9287881	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9751663	0.89[EUR][1000 genomes]
rs9751666	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][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	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS 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	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
3	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
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168175800-168187600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168176200-168187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:168182200-168187600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:168183600-168187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:168185800-168187800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:168186200-168187200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:168186400-168187800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:168186600-168187800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:168186800-168187200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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