Variant report

Variant	rs12629819
Chromosome Location	chr3:163750990-163750991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11915927	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11916413	0.87[AMR][1000 genomes]
rs11921904	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923619	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11926265	0.84[ASN][1000 genomes]
rs11929250	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152254	0.86[ASN][1000 genomes]
rs12629375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629562	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13070311	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13071417	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13074035	0.80[ASN][1000 genomes]
rs13081596	0.80[ASN][1000 genomes]
rs13085097	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13091115	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13094569	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13098875	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1376954	0.86[ASN][1000 genomes]
rs1376955	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1376958	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449924	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1449925	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1449926	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1551227	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1579991	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1584555	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1584723	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597797	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847792	0.80[ASN][1000 genomes]
rs1966853	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2122374	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2167614	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2197946	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2218936	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34609523	0.83[ASN][1000 genomes]
rs34808492	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34854916	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34970811	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35075500	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35400880	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35428192	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs35515554	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35633016	0.80[ASN][1000 genomes]
rs36070541	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs55843212	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56042426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105442	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57528150	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58786379	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59475747	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs59943971	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6548323	0.88[EUR][1000 genomes]
rs6548328	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6548331	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6548333	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6548334	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6548335	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6770461	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770474	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773611	0.80[ASN][1000 genomes]
rs6783250	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786713	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6794983	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6796566	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800149	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803230	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6808152	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809939	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73014626	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73014638	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73022523	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73022531	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73876550	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7610128	0.88[EUR][1000 genomes]
rs7611608	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622554	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7626184	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7628562	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637433	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7638975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877814	chr3:163313230-163758210	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv877813	chr3:163313230-163761825	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv877816	chr3:163323028-163758210	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1001892	chr3:163410640-163799676	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv536789	chr3:163410640-163799676	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv877820	chr3:163557163-164167085	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv829781	chr3:163600633-163761895	Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2757903	chr3:163602449-163910060	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	esv2759199	chr3:163602449-163910060	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv428097	chr3:163602449-163910060	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv428425	chr3:163602449-163910060	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
12	nsv877825	chr3:163620918-164126802	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1006270	chr3:163651905-163849686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1002992	chr3:163670436-163935375	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1012169	chr3:163673654-163911342	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
16	nsv877830	chr3:163711497-163761825	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv877831	chr3:163713551-163777235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv460965	chr3:163713551-163813752	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv592434	chr3:163713551-163813752	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv997626	chr3:163747480-163883789	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163749000-163752600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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