Variant report

Variant	rs1048981
Chromosome Location	chr2:168116187-168116188
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10189334	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10192896	0.83[EUR][1000 genomes]
rs1048982	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10497321	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10803822	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10930264	0.83[EUR][1000 genomes]
rs10930265	0.85[EUR][1000 genomes]
rs12105767	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1357599	0.85[EUR][1000 genomes]
rs1403894	0.85[EUR][1000 genomes]
rs1479587	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1479591	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1523878	0.84[EUR][1000 genomes]
rs1540820	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1540821	0.82[EUR][1000 genomes]
rs16822928	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853227	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs16853266	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853267	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853279	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853282	0.84[CEU][hapmap];0.92[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853284	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853285	0.92[ASW][hapmap];0.84[CEU][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853286	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853288	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853290	0.85[EUR][1000 genomes]
rs16853291	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs16853296	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs16853305	0.84[CEU][hapmap];0.82[MKK][hapmap];0.82[EUR][1000 genomes]
rs16853306	0.92[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.84[MKK][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16853309	0.84[CEU][hapmap];0.83[MKK][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16853328	0.85[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16853330	0.92[CEU][hapmap];0.86[MKK][hapmap];0.84[EUR][1000 genomes]
rs16853331	0.91[CEU][hapmap];0.83[MKK][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16853337	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16853344	0.84[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16853346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853348	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16853353	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16853360	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16853370	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1916742	0.82[EUR][1000 genomes]
rs2177441	0.80[EUR][1000 genomes]
rs2927600	0.80[EUR][1000 genomes]
rs3749004	0.84[CEU][hapmap];0.83[MKK][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3749006	0.93[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4538166	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57797869	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58013803	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59889092	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60102532	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60214239	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61529696	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61748715	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61750760	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6432987	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6432988	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6715974	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6716354	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6728044	0.85[EUR][1000 genomes]
rs6731860	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6735992	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6739872	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6744215	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746887	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6747157	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6747227	0.83[CEU][hapmap]
rs6749022	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6749144	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6759681	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73012072	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73029738	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73029753	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73970900	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73972208	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972212	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972213	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972215	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972216	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972217	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73972224	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73972228	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73972230	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7573953	0.85[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7575951	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7576938	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7578175	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7580183	0.84[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7581012	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7581190	0.85[ASW][hapmap];0.91[CEU][hapmap];0.92[GIH][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7600424	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7601984	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7602109	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7602259	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7603405	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7604377	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7607246	0.85[ASW][hapmap];0.84[CEU][hapmap];0.92[GIH][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs922536	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs922537	0.85[ASW][hapmap];0.84[CEU][hapmap];0.92[GIH][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9287881	0.83[EUR][1000 genomes]
rs9751663	0.82[AMR][1000 genomes];0.80[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168104000-168122200	Weak transcription	Left Ventricle	heart
2	chr2:168113400-168116200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:168113600-168116400	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:168114000-168118000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:168114800-168116200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:168115200-168117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:168115800-168120200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:168116000-168120200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168116000-168120600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:168116000-168120800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:168116000-168121200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:168116000-168121600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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