Variant report

Variant	rs114523345
Chromosome Location	chr8:63998949-63998950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:63998121-63999294	ECC-1	luminal epithelium:	n/a	chr8:63998228-63998237
2	MAX	chr8:63998900-63999216	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:63998315-63999259	A549	lung:	n/a	n/a
4	SIN3A	chr8:63998090-63999166	H1-hESC	embryonic stem cell:	n/a	chr8:63998665-63998678
5	MAX	chr8:63998358-63999259	A549	lung:	n/a	n/a
6	CTBP2	chr8:63998443-63999051	H1-hESC	embryonic stem cell:	n/a	n/a
7	HA-E2F1	chr8:63997886-63999102	MCF-7	breast:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
8	FOS	chr8:63998928-63999124	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:63997488-63999101	HepG2	liver:	n/a	n/a
10	TBP	chr8:63998253-63999043	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr8:63998399-63998986	A549	lung:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
12	MAX	chr8:63998448-63999256	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr8:63998429-63998997	HCT-116	colon:	n/a	n/a
14	MAX	chr8:63998719-63999141	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr8:63998567-63999061	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr8:63998349-63999050	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:

Variant related genes	Relation type
TTPA	TF binding region
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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63997400-63999200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:63997400-63999200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:63997600-63999000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:63997600-63999000	Active TSS	A549	lung
5	chr8:63997600-63999200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:63997600-63999200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:63997600-63999200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:63997600-63999200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr8:63997600-63999200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr8:63997600-63999200	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:63997600-64000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:63997800-63999000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:63997800-63999000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:63997800-63999000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:63997800-63999000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:63997800-63999000	Active TSS	Colonic Mucosa	Colon
17	chr8:63997800-63999000	Active TSS	Fetal Intestine Small	intestine
18	chr8:63997800-63999000	Active TSS	Fetal Kidney	kidney
19	chr8:63997800-63999000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
20	chr8:63997800-63999000	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr8:63997800-63999200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:63997800-63999200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:63997800-63999200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:63997800-63999200	Active TSS	Brain Angular Gyrus	brain
27	chr8:63997800-63999200	Active TSS	Colon Smooth Muscle	Colon
28	chr8:63997800-63999200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:63997800-63999200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:63997800-63999200	Bivalent/Poised TSS	NHLF	lung
31	chr8:63997800-63999200	Bivalent/Poised TSS	Osteobl	bone
32	chr8:63997800-63999400	Active TSS	Aorta	Aorta
33	chr8:63997800-63999600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:63998000-63999000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:63998000-63999000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr8:63998000-63999000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:63998000-63999000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:63998000-63999000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr8:63998000-63999000	Active TSS	Pancreas	Pancrea
40	chr8:63998000-63999000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr8:63998000-63999000	Enhancers	Stomach Mucosa	stomach
42	chr8:63998000-63999200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:63998000-63999200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:63998000-63999200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:63998000-63999200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr8:63998000-63999200	Active TSS	Gastric	stomach
47	chr8:63998000-63999200	Active TSS	Psoas Muscle	Psoas
48	chr8:63998000-63999200	Active TSS	Right Ventricle	heart
49	chr8:63998000-63999200	Bivalent/Poised TSS	HSMM	muscle
50	chr8:63998000-63999200	Active TSS	HSMMtube	muscle

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