Variant report

Variant	rs6749022
Chromosome Location	chr2:168126540-168126541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10186558	0.86[EUR][1000 genomes]
rs10189334	0.82[EUR][1000 genomes]
rs10192896	0.82[EUR][1000 genomes]
rs1048981	0.92[CEU][hapmap]
rs1048982	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10497321	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs10803821	0.83[EUR][1000 genomes]
rs10803822	0.82[EUR][1000 genomes]
rs10930264	0.82[EUR][1000 genomes]
rs10930265	0.84[EUR][1000 genomes]
rs12105767	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1357599	0.84[EUR][1000 genomes]
rs1403894	0.84[EUR][1000 genomes]
rs1479587	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1479591	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523878	0.83[EUR][1000 genomes]
rs1540820	0.82[EUR][1000 genomes]
rs1540821	0.81[EUR][1000 genomes]
rs1540822	0.86[EUR][1000 genomes]
rs16822928	0.87[EUR][1000 genomes]
rs16853227	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs16853266	0.87[EUR][1000 genomes]
rs16853267	0.87[EUR][1000 genomes]
rs16853279	0.87[EUR][1000 genomes]
rs16853282	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs16853284	0.87[EUR][1000 genomes]
rs16853285	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs16853286	0.87[EUR][1000 genomes]
rs16853288	0.87[EUR][1000 genomes]
rs16853291	0.92[CEU][hapmap]
rs16853296	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs16853305	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs16853306	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16853309	0.91[CEU][hapmap]
rs16853328	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs16853330	1.00[CEU][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16853331	0.91[CEU][hapmap]
rs16853337	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs16853344	0.92[CEU][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16853346	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16853348	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16853353	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16853360	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16853370	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1916742	0.81[EUR][1000 genomes]
rs1916747	0.81[EUR][1000 genomes]
rs3749004	0.91[CEU][hapmap]
rs3749006	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4538166	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57797869	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58013803	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59889092	0.87[EUR][1000 genomes]
rs60102532	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60214239	0.89[EUR][1000 genomes]
rs61529696	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61748715	0.87[EUR][1000 genomes]
rs6432987	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6432988	0.87[EUR][1000 genomes]
rs6715974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728044	0.80[EUR][1000 genomes]
rs6731860	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6735992	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6739872	0.87[EUR][1000 genomes]
rs6744215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746887	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6747157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747227	0.92[CEU][hapmap]
rs6749144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759681	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs73012072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73029738	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73029753	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73970900	0.82[EUR][1000 genomes]
rs73972208	0.87[EUR][1000 genomes]
rs73972212	0.87[EUR][1000 genomes]
rs73972213	0.87[EUR][1000 genomes]
rs73972215	0.87[EUR][1000 genomes]
rs73972216	0.87[EUR][1000 genomes]
rs73972217	0.87[EUR][1000 genomes]
rs73972228	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73972230	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7573953	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7575951	0.87[EUR][1000 genomes]
rs7576938	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7578175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580183	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7581012	0.92[CEU][hapmap]
rs7581190	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7600424	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7601984	0.87[EUR][1000 genomes]
rs7602109	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7602259	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs7603405	0.87[EUR][1000 genomes]
rs7604377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607246	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs922536	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs922537	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs9287881	0.82[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	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	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
3	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	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
5	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168125000-168126600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr2:168125000-168126600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:168125200-168126600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr2:168125200-168126600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:168125800-168126600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:168126200-168128400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:168126200-168129000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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