Variant report

Variant	rs2140501
Chromosome Location	chr2:168203116-168203117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10186558	0.81[EUR][1000 genomes]
rs10189334	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10192896	0.85[EUR][1000 genomes]
rs1048981	0.83[TSI][hapmap]
rs10497321	0.82[CEU][hapmap]
rs10803822	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10930264	0.80[EUR][1000 genomes]
rs10930265	0.82[EUR][1000 genomes]
rs10930268	0.83[EUR][1000 genomes]
rs10930270	0.83[EUR][1000 genomes]
rs12105767	0.81[EUR][1000 genomes]
rs12620530	0.81[EUR][1000 genomes]
rs12692859	0.83[EUR][1000 genomes]
rs1357599	0.82[EUR][1000 genomes]
rs1357605	0.82[EUR][1000 genomes]
rs1382318	0.83[EUR][1000 genomes]
rs1403894	0.82[EUR][1000 genomes]
rs1403897	0.83[EUR][1000 genomes]
rs1403898	0.83[EUR][1000 genomes]
rs1403899	0.83[EUR][1000 genomes]
rs1403900	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1403901	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1478384	0.83[EUR][1000 genomes]
rs1478385	0.83[EUR][1000 genomes]
rs1523878	0.81[EUR][1000 genomes]
rs1523882	0.83[EUR][1000 genomes]
rs1540820	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1540821	0.86[EUR][1000 genomes]
rs1540822	0.81[EUR][1000 genomes]
rs1568747	0.83[EUR][1000 genomes]
rs1581484	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1581485	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1589728	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1608518	0.82[ASN][1000 genomes]
rs1608519	0.83[EUR][1000 genomes]
rs1608520	0.83[EUR][1000 genomes]
rs16853227	0.82[CEU][hapmap]
rs16853282	0.82[CEU][hapmap];0.88[TSI][hapmap]
rs16853285	0.82[CEU][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs16853291	0.82[CEU][hapmap]
rs16853296	0.82[CEU][hapmap]
rs16853305	0.82[CEU][hapmap]
rs16853309	0.82[CEU][hapmap]
rs16853328	0.88[TSI][hapmap]
rs16853331	0.82[CEU][hapmap]
rs16853337	0.82[CEU][hapmap]
rs16853344	0.82[CEU][hapmap]
rs1851758	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1851759	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1851760	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1916742	0.83[EUR][1000 genomes]
rs1916746	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1916747	0.86[EUR][1000 genomes]
rs1916748	0.83[EUR][1000 genomes]
rs1916749	0.83[EUR][1000 genomes]
rs1916750	0.83[EUR][1000 genomes]
rs1916751	0.83[EUR][1000 genomes]
rs1996949	0.83[EUR][1000 genomes]
rs2103098	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2177441	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2177442	0.86[EUR][1000 genomes]
rs2204280	0.83[EUR][1000 genomes]
rs2250619	0.83[EUR][1000 genomes]
rs2617368	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617386	0.83[EUR][1000 genomes]
rs2617388	0.83[EUR][1000 genomes]
rs2617391	0.83[EUR][1000 genomes]
rs2617393	0.83[EUR][1000 genomes]
rs2617394	0.83[EUR][1000 genomes]
rs2617398	0.83[EUR][1000 genomes]
rs2617399	0.83[EUR][1000 genomes]
rs2689820	0.83[EUR][1000 genomes]
rs2689823	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2689825	0.83[EUR][1000 genomes]
rs2689826	0.83[EUR][1000 genomes]
rs2689827	0.83[EUR][1000 genomes]
rs2689828	0.83[EUR][1000 genomes]
rs2689832	0.83[EUR][1000 genomes]
rs2689833	0.83[EUR][1000 genomes]
rs2689842	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2927600	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2949009	0.83[EUR][1000 genomes]
rs2949010	0.83[EUR][1000 genomes]
rs3749004	0.82[CEU][hapmap]
rs3749006	0.88[TSI][hapmap]
rs4538166	0.86[EUR][1000 genomes]
rs4667949	0.83[EUR][1000 genomes]
rs57797869	0.86[EUR][1000 genomes]
rs58013803	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60102532	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61529696	0.86[EUR][1000 genomes]
rs6432987	0.82[CEU][hapmap]
rs6726067	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6743941	0.91[ASN][1000 genomes]
rs6747227	0.91[CEU][hapmap]
rs6759681	0.81[CEU][hapmap]
rs73972228	0.86[EUR][1000 genomes]
rs73972230	0.86[EUR][1000 genomes]
rs7573953	0.88[TSI][hapmap]
rs7576187	0.83[EUR][1000 genomes]
rs7576938	0.82[CEU][hapmap]
rs7580183	0.82[CEU][hapmap]
rs7581012	0.82[CEU][hapmap]
rs7581190	0.91[CEU][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap]
rs7593641	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7594496	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7600424	0.82[CEU][hapmap]
rs7607246	0.82[CEU][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap]
rs899185	0.83[EUR][1000 genomes]
rs922536	0.82[CEU][hapmap]
rs922537	0.82[CEU][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap]
rs9287881	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs940315	0.83[EUR][1000 genomes]
rs9751663	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9751666	0.90[EUR][1000 genomes];0.89[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168194200-168211600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:168199200-168209000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:168199600-168221400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:168200600-168203200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:168201800-168203400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:168202400-168203600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:168202400-168203600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:168202800-168203200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:168203000-168203800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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