Variant report

Variant	rs577770374
Chromosome Location	chr8:110347525-110347526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:110346011-110347528	K562	blood:	n/a	n/a
2	ZNF384	chr8:110346147-110347602	K562	blood:	n/a	n/a
3	POLR2A	chr8:110345588-110347581	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:110345481-110347561	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr8:110344683-110347572	IMR90	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
2	chr8:110344786..110348564-chr8:110349076..110353866,8	MCF-7	breast:
3	chr8:109930677..109932392-chr8:110345259..110348256,2	MCF-7	breast:
4	chr8:110345039..110348121-chr8:110985396..110989742,4	MCF-7	breast:
5	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
6	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
7	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
8	chr8:109259359..109262285-chr8:110346380..110348055,2	K562	blood:

No data

Variant related genes	Relation type
NUDCD1	TF binding region
ENY2	TF binding region
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000253796	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000255402	Chromatin interaction
ENSG00000164794	Chromatin interaction
ENSG00000104408	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr8:110343800-110347600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:110344200-110347600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:110344200-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
6	chr8:110344600-110347600	Active TSS	HSMMtube	muscle
7	chr8:110344600-110347600	Active TSS	NHLF	lung
8	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:110344800-110347600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:110344800-110347600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:110344800-110347600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:110344800-110347600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:110344800-110348000	Active TSS	Right Atrium	heart
14	chr8:110345000-110347600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:110345000-110347600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:110345000-110347600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:110345000-110347600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:110345000-110347600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:110345000-110347600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:110345000-110347600	Active TSS	HSMM	muscle
21	chr8:110345000-110347600	Active TSS	NHDF-Ad	bronchial
22	chr8:110345000-110347800	Active TSS	Psoas Muscle	Psoas
23	chr8:110345000-110348000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:110345000-110348000	Active TSS	K562	blood
25	chr8:110345000-110348200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:110345000-110348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:110345000-110348200	Active TSS	GM12878-XiMat	blood
28	chr8:110345200-110347600	Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:110345200-110347600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:110345200-110347600	Active TSS	Fetal Intestine Large	intestine
31	chr8:110345200-110347600	Active TSS	Fetal Lung	lung
32	chr8:110345200-110347600	Active TSS	Fetal Muscle Leg	muscle
33	chr8:110345200-110347600	Active TSS	Fetal Thymus	thymus
34	chr8:110345200-110347600	Active TSS	A549	lung
35	chr8:110345200-110347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:110345200-110347800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:110345200-110347800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:110345200-110348000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:110345200-110348000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:110345400-110347600	Active TSS	Fetal Muscle Trunk	muscle
41	chr8:110345400-110347600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr8:110345400-110348000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:110345400-110348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:110345600-110347600	Active TSS	Colon Smooth Muscle	Colon
45	chr8:110345600-110347600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr8:110345600-110348200	Active TSS	Fetal Brain Female	brain
47	chr8:110345800-110347600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr8:110346200-110347600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:110346200-110347800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:110346800-110347600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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