Variant report

Variant	rs553240273
Chromosome Location	chr8:103826616-103826617
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103446716..103447551-chr8:103826538..103827278,2	MCF-7	breast:
2	chr8:103541696..103544133-chr8:103825198..103827958,2	MCF-7	breast:
3	chr8:102462115..102464304-chr8:103824112..103827007,2	K562	blood:
4	chr8:103826343..103827971-chr8:103875378..103877956,2	MCF-7	breast:
5	chr8:103639437..103639955-chr8:103826613..103827335,2	MCF-7	breast:
6	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
7	chr8:103663684..103664744-chr8:103826225..103827430,7	K562	blood:
8	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
9	chr8:103826311..103829977-chr8:103833527..103835576,3	MCF-7	breast:
10	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
11	chr8:103023024..103025926-chr8:103825006..103827127,2	K562	blood:
12	chr8:103663769..103664703-chr8:103826560..103827518,4	MCF-7	breast:
13	chr8:103639510..103640361-chr8:103826541..103827175,2	MCF-7	breast:
14	chr8:103251231..103253314-chr8:103826347..103828464,2	MCF-7	breast:
15	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
16	chr8:103597143..103598299-chr8:103826485..103827530,5	MCF-7	breast:
17	chr8:102658229..102659095-chr8:103826592..103827138,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048392	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000246263	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv3424719	chr8:103826526-103828524	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103822800-103837400	Weak transcription	Gastric	stomach
2	chr8:103823000-103826800	Weak transcription	Left Ventricle	heart
3	chr8:103823000-103831600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:103823000-103835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:103823000-103835600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
9	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
10	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
11	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
12	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
13	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
14	chr8:103823600-103826800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:103823600-103826800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:103823600-103826800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:103823600-103826800	Weak transcription	Fetal Kidney	kidney
18	chr8:103823600-103826800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:103823600-103827000	Enhancers	Hela-S3	cervix
20	chr8:103823600-103827200	Enhancers	Fetal Thymus	thymus
21	chr8:103823600-103827800	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:103823600-103834800	Weak transcription	Fetal Brain Female	brain
23	chr8:103823600-103837400	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:103823600-103838800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:103823600-103839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:103823600-103840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:103823800-103826800	Weak transcription	Primary B cells from cord blood	blood
28	chr8:103823800-103826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:103823800-103826800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:103823800-103826800	Weak transcription	Brain Angular Gyrus	brain
31	chr8:103823800-103826800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:103823800-103831600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:103823800-103837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:103823800-103837800	Weak transcription	NHDF-Ad	bronchial
35	chr8:103824000-103826800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:103824000-103826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:103824000-103826800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:103824000-103827000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:103824000-103827000	Enhancers	HepG2	liver
40	chr8:103824000-103827200	Enhancers	K562	blood
41	chr8:103824000-103831400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:103824000-103835000	Weak transcription	HSMMtube	muscle
43	chr8:103824000-103835000	Weak transcription	NHEK	skin
44	chr8:103824000-103835200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:103824000-103835200	Weak transcription	NHLF	lung
46	chr8:103824200-103835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:103824200-103836600	Weak transcription	Fetal Intestine Large	intestine
48	chr8:103824400-103827200	Enhancers	Thymus	Thymus
49	chr8:103825000-103827000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:103825000-103827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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