Variant report

Variant	rs56044433
Chromosome Location	chr5:14583741-14583742
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14582585..14585698-chr5:14586097..14589501,3	MCF-7	breast:
2	chr5:14582227..14584118-chr5:14585804..14588637,2	K562	blood:
3	chr5:14582284..14584528-chr5:14622359..14624603,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11952550	1.00[AMR][1000 genomes]
rs11953822	1.00[AMR][1000 genomes]
rs11956097	1.00[AMR][1000 genomes]
rs16903651	1.00[AMR][1000 genomes]
rs55714227	1.00[AMR][1000 genomes]
rs55957515	1.00[AMR][1000 genomes]
rs56155042	1.00[AMR][1000 genomes]
rs56297478	1.00[AMR][1000 genomes]
rs56350972	1.00[AMR][1000 genomes]
rs60753214	0.83[AMR][1000 genomes]
rs73749521	1.00[AMR][1000 genomes]
rs73749524	1.00[AMR][1000 genomes]
rs73749525	1.00[AMR][1000 genomes]
rs73749526	1.00[AMR][1000 genomes]
rs73749585	1.00[AMR][1000 genomes]
rs73749586	1.00[AMR][1000 genomes]
rs73749593	1.00[AMR][1000 genomes]
rs73749595	0.83[AMR][1000 genomes]
rs73749596	0.83[AMR][1000 genomes]
rs73752121	0.83[AMR][1000 genomes]
rs73752126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73752131	1.00[AMR][1000 genomes]
rs73752132	1.00[AMR][1000 genomes]
rs73752133	1.00[AMR][1000 genomes]
rs73752135	1.00[AMR][1000 genomes]
rs73752138	1.00[AMR][1000 genomes]
rs73752139	1.00[AMR][1000 genomes]
rs73752140	1.00[AMR][1000 genomes]
rs7710316	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1793651	chr5:14575698-14584695	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1839029	chr5:14581556-14584695	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14581400-14584000	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:14581400-14584400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:14581600-14585200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:14582600-14583800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:14582600-14583800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr5:14582800-14583800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14582800-14585000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:14582800-14585800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:14582800-14588000	Weak transcription	GM12878-XiMat	blood
10	chr5:14582800-14589400	Weak transcription	Lung	lung
11	chr5:14583000-14583800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr5:14583000-14585200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:14583000-14587200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:14583200-14583800	Active TSS	Fetal Intestine Large	intestine
15	chr5:14583200-14585000	Enhancers	Primary T cells from cord blood	blood
16	chr5:14583200-14585000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:14583200-14585200	Weak transcription	Fetal Brain Female	brain
18	chr5:14583200-14585200	Enhancers	Pancreas	Pancrea
19	chr5:14583200-14585400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:14583200-14586000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr5:14583200-14586000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:14583200-14588000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:14583200-14588800	Weak transcription	Small Intestine	intestine
24	chr5:14583200-14588800	Weak transcription	Spleen	Spleen
25	chr5:14583200-14594400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:14583400-14583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:14583400-14583800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:14583400-14584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:14583400-14584200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:14583400-14584200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:14583400-14584800	Enhancers	Fetal Brain Male	brain
32	chr5:14583400-14585000	Weak transcription	Fetal Intestine Small	intestine
33	chr5:14583400-14586400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr5:14583400-14588800	Weak transcription	Colonic Mucosa	Colon
35	chr5:14583400-14591600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:14583400-14593600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:14583600-14583800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr5:14583600-14583800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr5:14583600-14584000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr5:14583600-14584000	Flanking Active TSS	Hela-S3	cervix
41	chr5:14583600-14584200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:14583600-14586000	Enhancers	Primary T helper cells fromperipheralblood	blood

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