Variant report

Variant	rs59233462
Chromosome Location	chr5:68619433-68619434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68618836..68621074-chr5:68663910..68666098,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17236219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	1.00[AMR][1000 genomes]
rs17236618	1.00[EUR][1000 genomes]
rs17236639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873431	1.00[EUR][1000 genomes]
rs4252222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58172827	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs61290150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893921	1.00[EUR][1000 genomes]
rs73772384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
2	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:68576400-68627600	Weak transcription	Brain Substantia Nigra	brain
4	chr5:68576400-68627800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:68576600-68627800	Weak transcription	Brain Angular Gyrus	brain
6	chr5:68577400-68628200	Weak transcription	Small Intestine	intestine
7	chr5:68577600-68619800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:68577600-68627400	Weak transcription	NHEK	skin
9	chr5:68577800-68626600	Weak transcription	A549	lung
10	chr5:68581600-68627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:68581800-68626800	Weak transcription	Fetal Brain Female	brain
12	chr5:68581800-68627600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:68582800-68622400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:68591600-68627600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:68596000-68626800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:68599600-68627800	Weak transcription	NH-A	brain
17	chr5:68601400-68627600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:68605600-68627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:68606200-68625600	Weak transcription	Hela-S3	cervix
20	chr5:68609400-68622400	Weak transcription	K562	blood
21	chr5:68609600-68624000	Weak transcription	Placenta	Placenta
22	chr5:68609600-68627400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:68609600-68627600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:68609800-68621000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:68609800-68621000	Weak transcription	Thymus	Thymus
26	chr5:68609800-68627200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:68609800-68627400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:68609800-68627400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:68609800-68627400	Weak transcription	Esophagus	oesophagus
30	chr5:68609800-68627400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:68609800-68627400	Weak transcription	GM12878-XiMat	blood
32	chr5:68609800-68627600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:68609800-68627600	Weak transcription	Fetal Thymus	thymus
34	chr5:68609800-68628200	Weak transcription	Right Ventricle	heart
35	chr5:68609800-68628400	Weak transcription	Lung	lung
36	chr5:68610000-68619600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:68610000-68620200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:68610000-68621200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:68610000-68623600	Weak transcription	Fetal Intestine Large	intestine
40	chr5:68610000-68627400	Weak transcription	Dnd41	blood
41	chr5:68610400-68627600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:68610600-68621600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:68610600-68627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:68611000-68628200	Weak transcription	Aorta	Aorta
45	chr5:68612400-68627400	Weak transcription	Adipose Nuclei	Adipose
46	chr5:68612800-68626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:68613800-68627200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr5:68613800-68627400	Weak transcription	Primary B cells from cord blood	blood
49	chr5:68614200-68627400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:68616200-68626600	Weak transcription	Colonic Mucosa	Colon

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