Variant report

Variant	rs528478373
Chromosome Location	chr8:126045779-126045780
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	chr8:125548441..125550525-chr8:126045562..126047599,2	K562	blood:
2	chr8:126028018..126030385-chr8:126043461..126046019,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3322716	chr8:126045427-126047455	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
9	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:126030600-126049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:126031800-126046400	Weak transcription	Colonic Mucosa	Colon
15	chr8:126031800-126049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:126032000-126050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:126032800-126050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:126036400-126051200	Weak transcription	Small Intestine	intestine
19	chr8:126036800-126046800	Weak transcription	K562	blood
20	chr8:126036800-126050400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:126037400-126048400	Weak transcription	Fetal Kidney	kidney
22	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:126039400-126064400	Strong transcription	Primary T cells from cord blood	blood
24	chr8:126039400-126072000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:126039600-126052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:126039600-126067200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:126039600-126071800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr8:126040200-126053600	Strong transcription	Spleen	Spleen
30	chr8:126040400-126064400	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:126040400-126064600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:126040600-126046800	Strong transcription	Fetal Intestine Small	intestine
33	chr8:126040600-126047800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:126040800-126051400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:126041000-126047800	Weak transcription	Ovary	ovary
36	chr8:126042200-126052400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:126042200-126053200	Strong transcription	Thymus	Thymus
38	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:126042400-126052400	Strong transcription	Left Ventricle	heart
40	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:126042600-126050000	Weak transcription	Psoas Muscle	Psoas
42	chr8:126042600-126052200	Weak transcription	Fetal Heart	heart
43	chr8:126042600-126064200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:126042800-126071800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:126042800-126072600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:126042800-126084200	Strong transcription	Fetal Intestine Large	intestine
49	chr8:126043000-126046200	Genic enhancers	Placenta	Placenta
50	chr8:126043000-126075800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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