Variant report

Variant	rs28456275
Chromosome Location	chr8:121570116-121570117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121548668..121550591-chr8:121568296..121570186,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10086074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10086884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10092659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12335252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28709605	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
2	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:121548000-121570200	Strong transcription	Liver	Liver
4	chr8:121553200-121574200	Weak transcription	Psoas Muscle	Psoas
5	chr8:121553200-121574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:121557800-121597400	Weak transcription	Osteobl	bone
8	chr8:121558200-121574400	Weak transcription	NHDF-Ad	bronchial
9	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
10	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:121561200-121574400	Weak transcription	HSMM	muscle
13	chr8:121561200-121582600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
15	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:121561200-121586800	Weak transcription	Gastric	stomach
18	chr8:121561200-121586800	Weak transcription	Lung	lung
19	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
20	chr8:121561400-121572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:121561400-121581600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:121561400-121582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:121561400-121583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:121561400-121585400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:121561400-121586000	Weak transcription	NHLF	lung
26	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:121561800-121583000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:121561800-121585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:121562200-121582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:121565000-121571600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr8:121565200-121570800	Strong transcription	HepG2	liver
32	chr8:121565800-121570600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:121566000-121570200	Strong transcription	Primary T cells from cord blood	blood
34	chr8:121567000-121570200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr8:121568400-121586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:121568600-121582600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr8:121568600-121582600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:121568600-121585400	Weak transcription	Primary B cells from cord blood	blood
39	chr8:121568600-121586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:121568600-121586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:121568800-121570200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:121569800-121582400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:121569800-121586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:121570000-121571200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:121570000-121571200	Weak transcription	Brain Germinal Matrix	brain
46	chr8:121570000-121571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:121570000-121572800	Weak transcription	HSMMtube	muscle
48	chr8:121570000-121579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:121570000-121580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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