Variant report

Variant	rs34825850
Chromosome Location	chr2:182005326-182005327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11688120	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692430	0.85[EUR][1000 genomes]
rs11692625	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11693055	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11893772	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893821	0.94[ASN][1000 genomes]
rs12999974	0.94[ASN][1000 genomes]
rs13004683	0.85[ASN][1000 genomes]
rs13004750	0.87[ASN][1000 genomes]
rs13011738	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13011751	0.84[EUR][1000 genomes]
rs13012524	0.84[EUR][1000 genomes]
rs13020845	0.84[EUR][1000 genomes]
rs13026070	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13031518	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13033038	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13033467	0.94[ASN][1000 genomes]
rs34405919	0.83[AMR][1000 genomes]
rs34467063	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34504038	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34700861	0.81[AMR][1000 genomes]
rs34714467	0.94[ASN][1000 genomes]
rs34774580	0.89[EUR][1000 genomes]
rs34790351	0.83[AMR][1000 genomes]
rs35076700	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35250663	0.81[AMR][1000 genomes]
rs35323141	0.98[ASN][1000 genomes]
rs35482602	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35543145	0.94[ASN][1000 genomes]
rs35702511	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35725888	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514840	0.83[AMR][1000 genomes]
rs55900432	0.94[ASN][1000 genomes]
rs55954384	0.94[ASN][1000 genomes]
rs56692685	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59639779	0.94[ASN][1000 genomes]
rs6716261	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6719732	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6743720	0.84[ASN][1000 genomes]
rs6746347	0.94[ASN][1000 genomes]
rs6752921	0.81[AMR][1000 genomes]
rs6759865	0.94[ASN][1000 genomes]
rs72887083	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72888919	0.89[EUR][1000 genomes]
rs7349232	0.87[ASN][1000 genomes]
rs7558428	0.94[ASN][1000 genomes]
rs7581267	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598960	0.94[ASN][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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181999600-182022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182001800-182006000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:182002000-182005800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:182003400-182009200	Enhancers	Dnd41	blood
5	chr2:182003600-182005400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:182003600-182005600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:182003600-182005800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:182003600-182005800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:182003600-182006200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:182003600-182006200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:182003800-182006000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:182004800-182005400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:182004800-182005600	Enhancers	Fetal Brain Female	brain
14	chr2:182004800-182005800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:182004800-182008800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr2:182005000-182005400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:182005000-182005800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:182005000-182005800	Enhancers	Fetal Brain Male	brain
19	chr2:182005000-182006000	Enhancers	Adipose Nuclei	Adipose
20	chr2:182005000-182006000	Enhancers	Fetal Lung	lung
21	chr2:182005000-182006800	Enhancers	Thymus	Thymus
22	chr2:182005000-182007200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:182005200-182005400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:182005200-182005800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:182005200-182005800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:182005200-182005800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:182005200-182006800	Enhancers	Fetal Thymus	thymus
28	chr2:182005200-182007600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:182005200-182007600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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