Variant report

Variant	rs566781935
Chromosome Location	chr8:48617003-48617004
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	chr8:48616670..48620929-chr8:48647842..48650845,3	MCF-7	breast:

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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48590600-48625200	Weak transcription	HepG2	liver
2	chr8:48593200-48624000	Weak transcription	Thymus	Thymus
3	chr8:48597000-48625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:48597200-48647200	Weak transcription	NHEK	skin
5	chr8:48597200-48647400	Weak transcription	HMEC	breast
6	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
7	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
10	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:48606400-48624400	Weak transcription	Psoas Muscle	Psoas
12	chr8:48606600-48624000	Weak transcription	Right Atrium	heart
13	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
14	chr8:48609200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:48610400-48625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:48610600-48624400	Weak transcription	HSMM	muscle
17	chr8:48610600-48625000	Weak transcription	Fetal Thymus	thymus
18	chr8:48610600-48625400	Weak transcription	Brain Germinal Matrix	brain
19	chr8:48610600-48625400	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:48610600-48625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:48610800-48625400	Weak transcription	NHLF	lung
22	chr8:48611000-48625400	Weak transcription	Brain Angular Gyrus	brain
23	chr8:48611200-48617800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:48611400-48625200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:48611800-48617400	Weak transcription	HSMMtube	muscle
26	chr8:48611800-48625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:48611800-48632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:48612000-48617600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:48612000-48625800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:48612000-48647400	Weak transcription	NH-A	brain
31	chr8:48612400-48619000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:48612400-48625400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:48612400-48640000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:48612600-48617600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:48612600-48619600	Weak transcription	Stomach Mucosa	stomach
36	chr8:48612800-48617600	Strong transcription	Fetal Intestine Large	intestine
37	chr8:48612800-48618000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:48612800-48618000	Strong transcription	Adipose Nuclei	Adipose
39	chr8:48612800-48618200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:48612800-48618200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:48612800-48618400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:48612800-48618400	Strong transcription	Fetal Intestine Small	intestine
43	chr8:48612800-48619400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:48612800-48619600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:48612800-48619600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:48612800-48621200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr8:48613000-48618200	Strong transcription	Primary B cells from cord blood	blood
48	chr8:48613000-48618400	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:48613000-48619600	Strong transcription	Fetal Stomach	stomach
50	chr8:48613000-48621400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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