Variant report

Variant	rs454020
Chromosome Location	chr8:90860670-90860671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90858881..90863528-chr8:90995317..90998498,11	MCF-7	breast:
2	chr8:90859420..90866965-chr8:90912674..90917180,23	MCF-7	breast:
3	chr8:90730418..90730960-chr8:90860233..90861169,2	MCF-7	breast:
4	chr8:90860155..90861596-chr8:90995894..90997273,6	MCF-7	breast:
5	chr12:41227812..41228332-chr8:90860181..90861388,5	MCF-7	breast:
6	chr8:90860592..90861235-chr8:91013154..91013733,3	K562	blood:
7	chr8:90860194..90861094-chr8:91582992..91583517,3	K562	blood:
8	chr8:90860040..90860682-chr8:90957819..90958521,2	MCF-7	breast:
9	chr8:90859490..90861951-chr8:90897017..90899382,2	MCF-7	breast:
10	chr6:26249185..26251020-chr8:90860087..90861965,2	MCF-7	breast:
11	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
12	chr8:90860017..90862622-chr8:90932381..90934783,2	MCF-7	breast:
13	chr8:90860556..90861077-chr8:90914154..90914756,2	MCF-7	breast:
14	chr8:90859372..90863594-chr8:90985537..90991967,6	MCF-7	breast:
15	chr8:90860127..90861878-chr8:90995834..90997368,12	MCF-7	breast:
16	chr8:90860198..90860726-chr8:91007392..91008040,2	K562	blood:
17	chr8:90860444..90862985-chr8:90893846..90895436,2	MCF-7	breast:
18	chr8:90860238..90861141-chr8:91007229..91008461,8	MCF-7	breast:
19	chr8:90858673..90862372-chr8:90995003..90998670,3	K562	blood:
20	chr8:90733869..90736282-chr8:90859813..90862694,2	K562	blood:
21	chr8:90860192..90861462-chr8:90894641..90895365,5	MCF-7	breast:
22	chr8:90859033..90864870-chr8:90912637..90916570,15	MCF-7	breast:
23	chr8:90860209..90860849-chr8:90931291..90932110,3	MCF-7	breast:
24	chr8:90860209..90861069-chr8:90957500..90958819,5	MCF-7	breast:
25	chr8:90859189..90861523-chr8:90887641..90890521,4	MCF-7	breast:
26	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
27	chr8:90860020..90861677-chr8:90894087..90895653,8	MCF-7	breast:
28	chr8:90769536..90771377-chr8:90858098..90861015,2	MCF-7	breast:
29	chr8:90860628..90863383-chr8:90929314..90932262,2	MCF-7	breast:
30	chr8:90860109..90861127-chr8:90996276..90997394,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs379174	0.96[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381326	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381948	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393781	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39517	0.89[CEU][hapmap];0.96[ASN][1000 genomes]
rs39518	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs398957	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400613	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40383	0.88[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs404146	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404292	0.96[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs410014	0.88[CEU][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs410927	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs428441	0.96[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431623	0.92[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431985	0.96[CEU][hapmap];0.83[EUR][1000 genomes];0.96[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90860200-90860800	Active TSS	Brain Anterior Caudate	brain
2	chr8:90860200-90861200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:90860200-90861600	Enhancers	HSMM	muscle
4	chr8:90860400-90860800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:90860400-90861200	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr8:90860400-90861200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:90860600-90860800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:90860600-90860800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:90860600-90860800	Active TSS	Primary T cells from cord blood	blood
10	chr8:90860600-90860800	Active TSS	Primary hematopoietic stem cells	blood
11	chr8:90860600-90860800	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr8:90860600-90860800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:90860600-90860800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:90860600-90860800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:90860600-90860800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:90860600-90860800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:90860600-90860800	Active TSS	Adipose Nuclei	Adipose
18	chr8:90860600-90860800	Active TSS	Aorta	Aorta
19	chr8:90860600-90860800	Active TSS	Liver	Liver
20	chr8:90860600-90860800	Active TSS	Brain Angular Gyrus	brain
21	chr8:90860600-90860800	Active TSS	Brain Germinal Matrix	brain
22	chr8:90860600-90860800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:90860600-90860800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr8:90860600-90860800	Active TSS	Fetal Brain Female	brain
25	chr8:90860600-90860800	Active TSS	Fetal Intestine Large	intestine
26	chr8:90860600-90860800	Active TSS	Fetal Intestine Small	intestine
27	chr8:90860600-90860800	Active TSS	Fetal Muscle Leg	muscle
28	chr8:90860600-90860800	Enhancers	Fetal Thymus	thymus
29	chr8:90860600-90860800	Active TSS	Left Ventricle	heart
30	chr8:90860600-90860800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:90860600-90860800	Active TSS	Stomach Mucosa	stomach
32	chr8:90860600-90860800	Active TSS	Thymus	Thymus
33	chr8:90860600-90860800	Active TSS	HMEC	breast
34	chr8:90860600-90860800	Active TSS	HSMMtube	muscle
35	chr8:90860600-90860800	Active TSS	NH-A	brain
36	chr8:90860600-90860800	Active TSS	NHEK	skin
37	chr8:90860600-90860800	Active TSS	Osteobl	bone
38	chr8:90860600-90861000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:90860600-90861000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:90860600-90861000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:90860600-90861000	Enhancers	Primary B cells from cord blood	blood
42	chr8:90860600-90861000	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:90860600-90861000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:90860600-90861000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:90860600-90861000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr8:90860600-90861000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr8:90860600-90861000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:90860600-90861000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:90860600-90861000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:90860600-90861000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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