Variant report

Variant	rs26179
Chromosome Location	chr5:14586181-14586182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14582227..14584118-chr5:14585804..14588637,2	K562	blood:
2	chr5:14580610..14583664-chr5:14584270..14587652,5	MCF-7	breast:
3	chr5:14584725..14587158-chr5:14598322..14600170,2	K562	blood:
4	chr5:14582585..14585698-chr5:14586097..14589501,3	MCF-7	breast:
5	chr5:14585331..14587252-chr5:14592477..14594441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145569	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13172589	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs149196	0.93[EUR][1000 genomes]
rs149197	0.95[EUR][1000 genomes]
rs152621	0.86[ASN][1000 genomes]
rs152717	0.87[EUR][1000 genomes]
rs152765	0.86[ASN][1000 genomes]
rs153819	0.93[EUR][1000 genomes]
rs153823	0.91[EUR][1000 genomes]
rs153824	0.93[EUR][1000 genomes]
rs171652	0.90[EUR][1000 genomes]
rs2455395	0.93[EUR][1000 genomes]
rs25958	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs25959	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs25960	0.84[ASN][1000 genomes]
rs26172	0.84[ASN][1000 genomes]
rs26177	0.86[ASN][1000 genomes]
rs27354	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31971	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31972	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs31973	0.88[EUR][1000 genomes]
rs31974	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31975	0.84[ASN][1000 genomes]
rs31976	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36103605	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs457897	0.96[EUR][1000 genomes]
rs468184	0.88[EUR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv1837510	chr5:14581556-14591004	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14582800-14588000	Weak transcription	GM12878-XiMat	blood
2	chr5:14582800-14589400	Weak transcription	Lung	lung
3	chr5:14583000-14587200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:14583200-14588000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:14583200-14588800	Weak transcription	Small Intestine	intestine
6	chr5:14583200-14588800	Weak transcription	Spleen	Spleen
7	chr5:14583200-14594400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:14583400-14586400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:14583400-14588800	Weak transcription	Colonic Mucosa	Colon
10	chr5:14583400-14591600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:14583400-14593600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:14583800-14586800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:14583800-14587000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:14583800-14588800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:14584000-14587200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:14585000-14587000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:14585000-14588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:14585000-14590200	Weak transcription	Primary T cells from cord blood	blood
19	chr5:14585000-14590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:14585200-14588200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:14585200-14590800	Weak transcription	Hela-S3	cervix
22	chr5:14585400-14590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:14585400-14593000	Weak transcription	Fetal Brain Female	brain
24	chr5:14585800-14586400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:14585800-14586400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:14585800-14587000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:14585800-14587800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:14585800-14589400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:14585800-14590400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
31	chr5:14586000-14587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:14586000-14587000	Weak transcription	Pancreas	Pancrea
33	chr5:14586000-14587000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:14586000-14588800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:14586000-14590600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:14586000-14602600	Weak transcription	Fetal Intestine Large	intestine

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