Variant report

Variant	rs2373226
Chromosome Location	chr3:46404163-46404164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1034382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799865	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2040389	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2040390	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2097282	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2097283	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2097284	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2157058	0.91[EUR][1000 genomes]
rs2187669	0.91[EUR][1000 genomes]
rs2187670	0.91[EUR][1000 genomes]
rs2213288	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3092962	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092963	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3092964	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3138042	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34997146	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35510257	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36048784	0.91[EUR][1000 genomes]
rs3762823	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918358	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3918359	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918361	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683199	0.80[EUR][1000 genomes]
rs4683211	0.88[EUR][1000 genomes]
rs4683215	0.91[EUR][1000 genomes]
rs4683218	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62244813	0.91[EUR][1000 genomes]
rs6441958	0.83[EUR][1000 genomes]
rs6441959	0.83[EUR][1000 genomes]
rs6441960	0.90[EUR][1000 genomes]
rs6441968	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441972	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67450950	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6765031	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783993	0.88[EUR][1000 genomes]
rs6785981	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6801761	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7432080	0.91[EUR][1000 genomes]
rs7612940	0.91[EUR][1000 genomes]
rs762789	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7635588	0.88[EUR][1000 genomes]
rs768539	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46395800-46404200	Weak transcription	Right Atrium	heart
2	chr3:46396000-46422000	Weak transcription	Lung	lung
3	chr3:46398000-46404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:46400200-46404200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr3:46400400-46404200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:46400400-46404400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:46401000-46404200	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:46401000-46404400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:46401000-46404600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:46402200-46404400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:46402200-46404400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:46402400-46405400	Enhancers	GM12878-XiMat	blood
13	chr3:46402600-46404400	Enhancers	Spleen	Spleen
14	chr3:46402800-46404200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:46402800-46404400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:46403000-46404400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:46403000-46404400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr3:46403000-46408000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:46403600-46407000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:46403800-46404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:46403800-46409600	Weak transcription	Fetal Intestine Large	intestine
22	chr3:46404000-46404400	Enhancers	Thymus	Thymus
23	chr3:46404000-46404600	Enhancers	Small Intestine	intestine
24	chr3:46404000-46404600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr3:46404000-46407400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:46404000-46409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:46404000-46409400	Weak transcription	Fetal Thymus	thymus

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