Variant report

Variant	rs7719588
Chromosome Location	chr5:43571187-43571188
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43555077..43559335-chr5:43568297..43574840,9	MCF-7	breast:
2	chr5:43555648..43560164-chr5:43568493..43574062,6	MCF-7	breast:
3	chr5:43553205..43562648-chr5:43565710..43576086,17	K562	blood:
4	chr5:43558159..43559976-chr5:43570027..43571651,2	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction

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

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

rs_ID	r²[population]
rs10039298	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10068155	1.00[AMR][1000 genomes]
rs10805677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10941641	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11741521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12514093	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4302596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4404685	1.00[AMR][1000 genomes]
rs4510596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4513705	1.00[AMR][1000 genomes]
rs4549534	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4597976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4640799	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863997	1.00[AMR][1000 genomes]
rs6872851	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6874647	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876588	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6896358	1.00[AMR][1000 genomes]
rs6897657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7717328	1.00[AMR][1000 genomes]
rs7721790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7722475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732089	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737410	1.00[AMR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
3	chr5:43560200-43584400	Weak transcription	K562	blood
4	chr5:43564000-43574800	Weak transcription	Fetal Intestine Small	intestine
5	chr5:43564600-43575000	Weak transcription	Fetal Stomach	stomach
6	chr5:43564600-43580200	Weak transcription	Fetal Kidney	kidney
7	chr5:43564800-43575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:43565200-43572600	Weak transcription	Hela-S3	cervix
9	chr5:43565400-43579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
11	chr5:43565600-43575000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:43565600-43581800	Weak transcription	Dnd41	blood
13	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
14	chr5:43566400-43580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:43566800-43586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:43567000-43575000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:43567000-43575200	Weak transcription	Primary T cells from cord blood	blood
18	chr5:43567200-43575200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:43567200-43575200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:43567200-43577000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
24	chr5:43568400-43581800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
26	chr5:43568800-43572400	Weak transcription	GM12878-XiMat	blood
27	chr5:43569000-43571200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:43569200-43591800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:43569400-43574600	Enhancers	Fetal Heart	heart
31	chr5:43570000-43582000	Weak transcription	Liver	Liver
32	chr5:43570200-43571200	Enhancers	Ovary	ovary
33	chr5:43570200-43581600	Weak transcription	Left Ventricle	heart
34	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
35	chr5:43570400-43571200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:43570600-43571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:43570600-43571200	Enhancers	Placenta	Placenta
38	chr5:43570600-43574400	Enhancers	Fetal Lung	lung
39	chr5:43570600-43577200	Weak transcription	Primary B cells from cord blood	blood
40	chr5:43570800-43571200	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:43570800-43571200	Enhancers	Osteobl	bone
42	chr5:43571000-43571200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:43571000-43571200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:43571000-43571200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:43571000-43571200	Enhancers	Adipose Nuclei	Adipose
46	chr5:43571000-43571200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:43571000-43571200	Enhancers	NHDF-Ad	bronchial
48	chr5:43571000-43571400	Enhancers	Colon Smooth Muscle	Colon

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