Variant report

Variant	rs17216717
Chromosome Location	chr3:46186323-46186324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10510748	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10510749	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10510750	1.00[AFR][1000 genomes]
rs11929489	0.84[EUR][1000 genomes]
rs13059906	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060713	1.00[AFR][1000 genomes]
rs13060802	1.00[AFR][1000 genomes]
rs13061548	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13062450	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13062523	0.84[EUR][1000 genomes]
rs13067058	1.00[AFR][1000 genomes]
rs13068572	0.82[ASN][1000 genomes]
rs13069467	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069750	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13069845	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13070099	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13075270	0.85[EUR][1000 genomes]
rs13075836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13080979	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13082995	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13083881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13083914	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084057	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084175	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086063	0.84[EUR][1000 genomes]
rs13088766	0.84[EUR][1000 genomes]
rs13089544	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13089907	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090848	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092160	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13095940	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13095946	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13096307	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13096325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096371	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13096808	1.00[AFR][1000 genomes]
rs13096873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13096905	1.00[AFR][1000 genomes]
rs13097340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097666	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13098911	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17078704	0.90[ASN][1000 genomes]
rs17282797	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17282922	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2131092	1.00[AFR][1000 genomes]
rs3091314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136672	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3136673	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3176824	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3176825	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3176826	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3181076	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3181078	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3181080	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33998492	1.00[AFR][1000 genomes]
rs34013035	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34047458	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34059564	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34101673	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34134191	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34194160	1.00[AFR][1000 genomes]
rs34198655	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34280313	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34289272	1.00[AFR][1000 genomes]
rs34340501	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34376347	0.82[EUR][1000 genomes]
rs34378541	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34401473	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34406035	1.00[AFR][1000 genomes]
rs34409248	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34414382	1.00[AFR][1000 genomes]
rs34423195	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34498313	0.84[EUR][1000 genomes]
rs34523728	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34531115	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34558763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34567015	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34570200	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34611049	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34625088	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34677490	1.00[AFR][1000 genomes]
rs34692251	1.00[AFR][1000 genomes]
rs34693386	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34745455	1.00[AFR][1000 genomes]
rs34759782	0.84[EUR][1000 genomes]
rs34865316	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34870159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34897745	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34919616	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34920132	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34985947	0.84[EUR][1000 genomes]
rs34996127	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35111399	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35178150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35195804	0.84[EUR][1000 genomes]
rs35288652	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35335084	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35354367	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35429781	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35434266	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560301	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35566550	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35587265	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35613615	1.00[AFR][1000 genomes]
rs35614049	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35617677	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35685805	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754688	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35775079	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35853141	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35919278	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35942803	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35960950	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35984988	0.84[EUR][1000 genomes]
rs36010446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36048333	1.00[AFR][1000 genomes]
rs36189995	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774630	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41432345	0.88[EUR][1000 genomes]
rs41537946	0.84[EUR][1000 genomes]
rs4443214	0.90[ASN][1000 genomes]
rs4493469	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57115330	0.83[EUR][1000 genomes]
rs6765904	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71327035	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71327036	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71327038	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71327039	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71327040	1.00[AFR][1000 genomes]
rs71327041	1.00[AFR][1000 genomes]
rs71327042	1.00[AFR][1000 genomes]
rs7631551	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46174000-46202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:46183000-46187200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46184600-46186400	Enhancers	Adipose Nuclei	Adipose
4	chr3:46184600-46186800	Enhancers	Fetal Lung	lung
5	chr3:46184600-46187000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:46184600-46194800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:46184800-46186600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:46185200-46186400	Enhancers	Brain Germinal Matrix	brain
9	chr3:46185200-46186600	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:46185400-46186800	Weak transcription	Fetal Thymus	thymus
11	chr3:46186000-46187600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:46186000-46188400	Weak transcription	Spleen	Spleen
13	chr3:46186000-46188600	Weak transcription	Lung	lung
14	chr3:46186200-46186800	Enhancers	Monocytes-CD14+_RO01746	blood

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