Variant report

Variant	rs551867397
Chromosome Location	chr8:110347653-110347654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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
ENSG00000104408	Chromatin interaction
ENSG00000164794	Chromatin interaction
ENSG00000255402	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000253796	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000120533	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	chr8:110344000-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:110344200-110348000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:110344400-110348400	Active TSS	Right Ventricle	heart
4	chr8:110344600-110348200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:110344800-110348000	Active TSS	Right Atrium	heart
6	chr8:110345000-110347800	Active TSS	Psoas Muscle	Psoas
7	chr8:110345000-110348000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:110345000-110348000	Active TSS	K562	blood
9	chr8:110345000-110348200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:110345000-110348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:110345000-110348200	Active TSS	GM12878-XiMat	blood
12	chr8:110345200-110347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:110345200-110347800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:110345200-110347800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:110345200-110348000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:110345200-110348000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:110345400-110348000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:110345400-110348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:110345600-110348200	Active TSS	Fetal Brain Female	brain
20	chr8:110346200-110347800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:110347000-110358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:110347000-110358400	Weak transcription	Spleen	Spleen
23	chr8:110347000-110358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:110347200-110347800	Weak transcription	Small Intestine	intestine
25	chr8:110347200-110348000	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:110347200-110348200	Active TSS	HepG2	liver
27	chr8:110347200-110354800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:110347200-110355000	Weak transcription	Lung	lung
29	chr8:110347200-110357600	Weak transcription	Pancreas	Pancrea
30	chr8:110347200-110358200	Weak transcription	Esophagus	oesophagus
31	chr8:110347200-110359800	Weak transcription	Gastric	stomach
32	chr8:110347400-110348000	Enhancers	Primary B cells from cord blood	blood
33	chr8:110347400-110348000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr8:110347400-110348000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:110347400-110348000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:110347400-110348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:110347400-110348200	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:110347400-110348200	Weak transcription	Fetal Heart	heart
39	chr8:110347400-110348400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr8:110347400-110348400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:110347400-110348600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:110347400-110349200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:110347400-110349200	Weak transcription	Left Ventricle	heart
44	chr8:110347400-110349400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:110347400-110349800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr8:110347400-110350000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:110347400-110351200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:110347400-110356200	Weak transcription	Ovary	ovary
49	chr8:110347400-110358000	Weak transcription	Colonic Mucosa	Colon
50	chr8:110347400-110358400	Weak transcription	Fetal Brain Male	brain

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