Variant report

Variant	rs557316937
Chromosome Location	chr8:63998389-63998390
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	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:

Variant related genes	Relation type
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3373017	chr8:63989447-64014250	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3445521	chr8:63989447-64017270	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3445164	chr8:63997798-63999646	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63997200-63998800	Active TSS	Liver	Liver
2	chr8:63997400-63998800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:63997400-63999200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:63997400-63999200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:63997600-63998600	Active TSS	Fetal Muscle Trunk	muscle
6	chr8:63997600-63999000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:63997600-63999000	Active TSS	A549	lung
8	chr8:63997600-63999200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:63997600-63999200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:63997600-63999200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:63997600-63999200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr8:63997600-63999200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr8:63997600-63999200	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:63997600-64000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:63997800-63998400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr8:63997800-63998400	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr8:63997800-63998400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr8:63997800-63998600	Bivalent/Poised TSS	NHEK	skin
19	chr8:63997800-63998800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:63997800-63998800	Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:63997800-63998800	Active TSS	Placenta	Placenta
22	chr8:63997800-63999000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:63997800-63999000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:63997800-63999000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:63997800-63999000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:63997800-63999000	Active TSS	Colonic Mucosa	Colon
27	chr8:63997800-63999000	Active TSS	Fetal Intestine Small	intestine
28	chr8:63997800-63999000	Active TSS	Fetal Kidney	kidney
29	chr8:63997800-63999000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chr8:63997800-63999000	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr8:63997800-63999200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr8:63997800-63999200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:63997800-63999200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:63997800-63999200	Active TSS	Brain Angular Gyrus	brain
37	chr8:63997800-63999200	Active TSS	Colon Smooth Muscle	Colon
38	chr8:63997800-63999200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:63997800-63999200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:63997800-63999200	Bivalent/Poised TSS	NHLF	lung
41	chr8:63997800-63999200	Bivalent/Poised TSS	Osteobl	bone
42	chr8:63997800-63999400	Active TSS	Aorta	Aorta
43	chr8:63997800-63999600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:63998000-63998400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:63998000-63998400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr8:63998000-63998400	Bivalent/Poised TSS	Fetal Lung	lung
47	chr8:63998000-63998400	Flanking Active TSS	Ovary	ovary
48	chr8:63998000-63998400	Flanking Active TSS	HMEC	breast
49	chr8:63998000-63998600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
50	chr8:63998000-63998600	Bivalent/Poised TSS	Small Intestine	intestine

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