Variant report

Variant	rs59606309
Chromosome Location	chr8:110298055-110298056
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110293728..110295786-chr8:110296881..110298730,2	MCF-7	breast:
2	chr8:110296774..110299286-chr8:110348162..110350315,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs16879261	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879277	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16879288	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16879296	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16879302	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16879319	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1993593	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4489305	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58645331	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59395166	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59943608	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785810	1.00[ASN][1000 genomes]
rs61245151	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61479312	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66514810	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540106	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66582255	1.00[ASN][1000 genomes]
rs66595116	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66597282	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66850941	1.00[ASN][1000 genomes]
rs66894192	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993652	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67013559	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67022633	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67131445	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67145203	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67220317	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67285523	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650612	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67741834	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67743002	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67793872	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67919153	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67974558	0.94[ASN][1000 genomes]
rs68134891	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990184	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6994530	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680756	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682635	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72682688	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73303253	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303256	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73311376	1.00[ASN][1000 genomes]
rs73311383	0.94[ASN][1000 genomes]
rs73311385	1.00[ASN][1000 genomes]
rs73311386	1.00[ASN][1000 genomes]
rs73311387	1.00[ASN][1000 genomes]
rs73311394	1.00[ASN][1000 genomes]
rs73311400	1.00[ASN][1000 genomes]
rs73313204	1.00[ASN][1000 genomes]
rs7817013	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7823896	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv891274	chr8:110224047-110308776	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891275	chr8:110224047-110319234	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891276	chr8:110232329-110308776	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891277	chr8:110251998-110300579	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv891278	chr8:110251998-110308776	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv515589	chr8:110268104-110300579	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
2	chr8:110236200-110308800	Weak transcription	Thymus	Thymus
3	chr8:110236200-110309200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110238000-110311600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:110242400-110305000	Weak transcription	NHLF	lung
7	chr8:110247000-110311400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:110252400-110304800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:110252800-110299600	Weak transcription	Fetal Kidney	kidney
10	chr8:110255600-110305400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:110258400-110311200	Weak transcription	Lung	lung
12	chr8:110265000-110299600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:110274800-110301000	Weak transcription	Aorta	Aorta
14	chr8:110275000-110304400	Weak transcription	Osteobl	bone
15	chr8:110275600-110299600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:110276600-110305000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:110278200-110311200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:110284000-110304200	Weak transcription	NHDF-Ad	bronchial
19	chr8:110284000-110304400	Weak transcription	NH-A	brain
20	chr8:110284000-110305400	Weak transcription	Hela-S3	cervix
21	chr8:110284000-110306800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:110284400-110304400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
24	chr8:110285600-110304800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:110285600-110305400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:110285600-110311400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:110286400-110311400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:110287200-110305400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:110287400-110303800	Weak transcription	HUVEC	blood vessel
30	chr8:110288000-110305400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:110288200-110305400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:110288200-110311800	Weak transcription	K562	blood
33	chr8:110288600-110299800	Weak transcription	Adipose Nuclei	Adipose
34	chr8:110288600-110344200	Weak transcription	Ovary	ovary
35	chr8:110289200-110311200	Weak transcription	Gastric	stomach
36	chr8:110290800-110303200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:110291000-110301400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:110291800-110304600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:110291800-110305400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:110292000-110333200	Weak transcription	HepG2	liver
41	chr8:110292600-110299600	Weak transcription	Left Ventricle	heart
42	chr8:110292800-110299600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:110292800-110301400	Weak transcription	Fetal Thymus	thymus
44	chr8:110292800-110304400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:110292800-110304800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:110292800-110311400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:110293000-110299600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:110293400-110299600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:110293400-110304400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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