Variant report

Variant	rs16930248
Chromosome Location	chr8:48613061-48613062
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	chr8:48607821..48609433-chr8:48611384..48613361,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16931202	1.00[AFR][1000 genomes]
rs8178212	1.00[AFR][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	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

No data

Chromatin state (count:105 , 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	chr8:48597200-48614200	Weak transcription	Hela-S3	cervix
5	chr8:48597200-48647200	Weak transcription	NHEK	skin
6	chr8:48597200-48647400	Weak transcription	HMEC	breast
7	chr8:48597400-48614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:48599200-48626600	Weak transcription	Fetal Kidney	kidney
9	chr8:48600600-48615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:48600800-48614400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:48602400-48616400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:48603000-48614200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:48603400-48614800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:48604200-48615000	Weak transcription	Colonic Mucosa	Colon
16	chr8:48604400-48615000	Weak transcription	Pancreas	Pancrea
17	chr8:48604400-48619000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
19	chr8:48604600-48614800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:48604600-48615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:48605000-48614400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:48605000-48614800	Weak transcription	Liver	Liver
23	chr8:48605000-48625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:48606400-48624400	Weak transcription	Psoas Muscle	Psoas
25	chr8:48606600-48615200	Weak transcription	Right Ventricle	heart
26	chr8:48606600-48624000	Weak transcription	Right Atrium	heart
27	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
28	chr8:48609200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:48609400-48615000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:48609600-48614800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:48610400-48613200	Weak transcription	Placenta	Placenta
32	chr8:48610400-48625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:48610600-48614800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:48610600-48614800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:48610600-48614800	Weak transcription	Left Ventricle	heart
36	chr8:48610600-48616800	Weak transcription	Esophagus	oesophagus
37	chr8:48610600-48624400	Weak transcription	HSMM	muscle
38	chr8:48610600-48625000	Weak transcription	Fetal Thymus	thymus
39	chr8:48610600-48625400	Weak transcription	Brain Germinal Matrix	brain
40	chr8:48610600-48625400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:48610600-48625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:48610800-48625400	Weak transcription	NHLF	lung
43	chr8:48611000-48613200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:48611000-48617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:48611000-48625400	Weak transcription	Brain Angular Gyrus	brain
46	chr8:48611200-48613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:48611200-48617800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:48611400-48614600	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:48611400-48614800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:48611400-48616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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