Variant report

Variant	rs71615445
Chromosome Location	chr3:46377005-46377006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10510750	0.82[EUR][1000 genomes]
rs11574430	0.90[ASN][1000 genomes]
rs11574436	0.90[ASN][1000 genomes]
rs11574442	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11575062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919884	0.84[EUR][1000 genomes]
rs13065351	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13068145	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13068271	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13071469	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13073976	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13077302	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13078564	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13080757	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13093063	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13100243	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17141079	1.00[ASN][1000 genomes]
rs17141101	0.90[ASN][1000 genomes]
rs17217831	0.88[EUR][1000 genomes]
rs17283712	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17284138	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17284187	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17285143	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17715106	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17765882	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17782551	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17782618	0.95[ASN][1000 genomes]
rs17782636	0.95[ASN][1000 genomes]
rs1894387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157053	1.00[AFR][1000 genomes]
rs2157055	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2373245	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2373250	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2373251	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2856762	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28677778	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3091310	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3092957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181038	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3204850	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34024447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34041956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34073838	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34079287	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34106161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34158148	1.00[ASN][1000 genomes]
rs34180919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34190223	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34200951	0.95[ASN][1000 genomes]
rs34203322	0.87[ASN][1000 genomes]
rs34245951	0.85[ASN][1000 genomes]
rs34265215	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34272024	0.80[EUR][1000 genomes]
rs34351442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34363105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406035	0.85[EUR][1000 genomes]
rs34448949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34455547	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34473395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34578126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34671664	0.85[ASN][1000 genomes]
rs34709208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34883716	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34953706	1.00[ASN][1000 genomes]
rs34988015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34997818	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35035328	0.83[EUR][1000 genomes]
rs35117954	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35118578	0.86[ASN][1000 genomes]
rs35148665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35203745	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35218998	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35260614	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35367413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35373513	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35386789	0.86[ASN][1000 genomes]
rs35413141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35438577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35479331	1.00[ASN][1000 genomes]
rs35511592	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35513549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35516519	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35568430	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35577626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35601704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35646896	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35821444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35878193	0.95[ASN][1000 genomes]
rs35883833	0.85[ASN][1000 genomes]
rs35943069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36020695	0.85[ASN][1000 genomes]
rs36030692	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36048333	0.85[EUR][1000 genomes]
rs36052732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36078103	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3749461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3918368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4473594	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4987053	0.86[EUR][1000 genomes]
rs6777875	1.00[ASN][1000 genomes]
rs6793370	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6806951	0.95[ASN][1000 genomes]
rs71327047	0.91[EUR][1000 genomes]
rs71327048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71327052	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327059	1.00[ASN][1000 genomes]
rs71327061	1.00[ASN][1000 genomes]
rs71327062	0.95[ASN][1000 genomes]
rs71327063	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs71622511	0.86[EUR][1000 genomes]
rs7649905	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9714000	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9810242	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9872023	0.91[EUR][1000 genomes]
rs9882616	0.91[EUR][1000 genomes];0.86[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	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	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46375600-46377600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:46375600-46377600	Enhancers	HMEC	breast
3	chr3:46375800-46377600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:46375800-46377600	Enhancers	Hela-S3	cervix
5	chr3:46375800-46378200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr3:46376000-46380000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:46376400-46377400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:46376400-46377400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:46376400-46377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:46376600-46377400	Enhancers	Fetal Kidney	kidney
11	chr3:46376600-46377800	Enhancers	Fetal Intestine Large	intestine
12	chr3:46376800-46377400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:46376800-46377400	Enhancers	Stomach Mucosa	stomach
14	chr3:46376800-46378000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:46377000-46377200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:46377000-46377200	Bivalent Enhancer	Osteobl	bone
17	chr3:46377000-46377600	Enhancers	NHEK	skin

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