Variant report

Variant	rs180682304
Chromosome Location	chr8:125585050-125585051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125577041..125579836-chr8:125582630..125585681,3	K562	blood:
2	chr8:125583606..125586217-chr8:125589434..125592977,3	K562	blood:
3	chr8:125549863..125553007-chr8:125584372..125586480,3	MCF-7	breast:
4	chr8:125577863..125579836-chr8:125582630..125585102,2	K562	blood:
5	chr8:125575386..125578352-chr8:125584733..125586446,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000272486	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv275001	chr8:125584475-125593594	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125566400-125600600	Weak transcription	NHEK	skin
4	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
5	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125574800-125590200	Weak transcription	HMEC	breast
8	chr8:125575400-125589200	Weak transcription	Esophagus	oesophagus
9	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
10	chr8:125575800-125589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:125576800-125590200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:125577200-125591400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:125577400-125586600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:125577400-125589800	Weak transcription	NHLF	lung
17	chr8:125577600-125586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:125577600-125591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:125577800-125589600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:125577800-125590000	Weak transcription	Osteobl	bone
21	chr8:125578000-125585400	Weak transcription	Right Atrium	heart
22	chr8:125578000-125585400	Weak transcription	Thymus	Thymus
23	chr8:125578000-125586600	Weak transcription	NHDF-Ad	bronchial
24	chr8:125578000-125598600	Weak transcription	Gastric	stomach
25	chr8:125578200-125586600	Weak transcription	Fetal Thymus	thymus
26	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:125579000-125591400	Weak transcription	HUVEC	blood vessel
28	chr8:125579200-125586400	Weak transcription	Fetal Heart	heart
29	chr8:125579200-125590200	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:125579400-125585200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:125579400-125586200	Weak transcription	Fetal Lung	lung
32	chr8:125579400-125589800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
34	chr8:125579600-125585600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:125579800-125586800	Weak transcription	Placenta	Placenta
36	chr8:125580000-125586800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:125580000-125586800	Weak transcription	Brain Substantia Nigra	brain
38	chr8:125580400-125588400	Weak transcription	HSMMtube	muscle
39	chr8:125580600-125585400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:125580600-125585400	Weak transcription	Adipose Nuclei	Adipose
41	chr8:125580600-125586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:125580600-125586600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:125580600-125586600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:125580600-125588600	Weak transcription	Spleen	Spleen
45	chr8:125580600-125590200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:125580600-125590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:125580800-125586000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:125580800-125588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:125580800-125590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:125581000-125586400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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