Variant report

Variant	rs2542328
Chromosome Location	chr19:40460797-40460798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10421829	1.00[CHB][hapmap]
rs16973959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173062	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234329	1.00[CHB][hapmap]
rs234333	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs234335	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234336	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234337	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234338	1.00[CHB][hapmap]
rs234344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234345	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234349	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234351	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234364	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs234366	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234373	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2531363	1.00[CHB][hapmap]
rs2542325	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs337796	1.00[CHB][hapmap]
rs376630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs378554	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs399405	1.00[CHB][hapmap]
rs420413	1.00[CHB][hapmap]
rs512360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58294889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59616965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60025633	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61413463	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249398	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255173	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259136	1.00[CHB][hapmap]
rs7260610	1.00[CHB][hapmap]
rs8113194	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40450000-40461200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:40450000-40461800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:40458400-40460800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:40458400-40466400	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:40459000-40461800	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:40459400-40461200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr19:40459400-40461600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:40459400-40462200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr19:40459600-40460800	Enhancers	GM12878-XiMat	blood
12	chr19:40459600-40461000	Enhancers	Dnd41	blood
13	chr19:40459600-40461200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr19:40459600-40461400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:40459600-40461600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr19:40459600-40466200	Enhancers	Primary B cells from cord blood	blood
17	chr19:40459800-40462800	Enhancers	Primary T cells from cord blood	blood
18	chr19:40460000-40461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:40460000-40464800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:40460400-40460800	Weak transcription	Fetal Thymus	thymus
22	chr19:40460400-40464800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:40460400-40465000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:40460600-40464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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