Variant report

Variant	rs28495689
Chromosome Location	chr5:49930577-49930578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10050585	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10055793	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10057335	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10058388	0.82[ASN][1000 genomes]
rs10471915	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12653803	0.84[ASN][1000 genomes]
rs13356533	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13436520	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1900738	0.84[ASN][1000 genomes]
rs1972980	0.88[ASN][1000 genomes]
rs2354525	0.91[ASN][1000 genomes]
rs28505342	0.81[AFR][1000 genomes]
rs28810787	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4440312	0.88[ASN][1000 genomes]
rs6450205	0.83[AMR][1000 genomes]
rs6450292	0.84[ASN][1000 genomes]
rs6868550	0.88[ASN][1000 genomes]
rs73097023	0.82[ASN][1000 genomes]
rs7702541	0.84[ASN][1000 genomes]
rs7721050	0.88[ASN][1000 genomes]
rs7736142	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv964850	chr5:49883635-49942856	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv14399	chr5:49885912-49934455	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv969047	chr5:49918610-49934158	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 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	chr5:49926400-49934200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:49926600-49934200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:49926800-49934000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:49926800-49934400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:49927200-49930600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:49927400-49931600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:49927400-49932400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:49927400-49932800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr5:49928200-49931800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:49928400-49932400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:49929000-49930800	Enhancers	Thymus	Thymus
12	chr5:49929000-49932400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:49929200-49932400	Enhancers	Fetal Thymus	thymus
14	chr5:49929400-49931600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:49929400-49936200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:49929600-49931600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr5:49929800-49931600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr5:49930000-49930800	Flanking Active TSS	Dnd41	blood
19	chr5:49930000-49931000	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:49930000-49931600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:49930000-49932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:49930200-49930800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:49930400-49930600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr5:49930400-49931000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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