Variant report

Variant	rs193054332
Chromosome Location	chr8:86157109-86157110
allele	A/G
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	JUN	chr8:86157095-86158934	K562	blood:	n/a	chr8:86157679-86157689 chr8:86157678-86157690 chr8:86157843-86157854 chr8:86157679-86157689 chr8:86157679-86157689 chr8:86157679-86157688 chr8:86157679-86157689
2	MAX	chr8:86156979-86158783	HCT-116	colon:	n/a	chr8:86157446-86157455 chr8:86157447-86157456 chr8:86157444-86157457 chr8:86157444-86157452 chr8:86157448-86157455 chr8:86157446-86157456 chr8:86157680-86157689 chr8:86157995-86158005 chr8:86157445-86157456 chr8:86157441-86157460
3	ZC3H11A	chr8:86157073-86157113	K562	blood:	n/a	n/a
4	MAX	chr8:86157002-86158802	HCT-116	colon:	n/a	chr8:86157446-86157455 chr8:86157447-86157456 chr8:86157444-86157457 chr8:86157444-86157452 chr8:86157448-86157455 chr8:86157446-86157456 chr8:86157680-86157689 chr8:86157995-86158005 chr8:86157445-86157456 chr8:86157441-86157460

No.	Distal block	Cell Line	Cell type
1	chr8:86132667..86134494-chr8:86156330..86158323,2	K562	blood:
2	chr8:86088395..86090323-chr8:86154916..86157479,2	K562	blood:
3	chr8:86130126..86132730-chr8:86156867..86158422,2	K562	blood:

Variant related genes	Relation type
CA13	TF binding region
ENSG00000185015	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000133740	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	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2761441	chr8:86155592-86167129	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86133800-86157200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:86134600-86157200	Weak transcription	Right Atrium	heart
3	chr8:86136000-86157200	Weak transcription	Liver	Liver
4	chr8:86139600-86157200	Weak transcription	Pancreas	Pancrea
5	chr8:86142600-86157200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:86145000-86157200	Weak transcription	Ovary	ovary
7	chr8:86145600-86157400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:86146200-86157200	Weak transcription	Gastric	stomach
9	chr8:86148000-86157200	Weak transcription	Esophagus	oesophagus
10	chr8:86148200-86157200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:86152000-86157200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:86152400-86157200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:86152800-86157200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:86153200-86157200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:86154600-86157200	Weak transcription	HepG2	liver
16	chr8:86156000-86157200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:86156600-86157200	Weak transcription	Thymus	Thymus
18	chr8:86156800-86157200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr8:86156800-86157200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr8:86157000-86157200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:86157000-86157200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr8:86157000-86157200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:86157000-86157200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:86157000-86157200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
25	chr8:86157000-86157200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
26	chr8:86157000-86157200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:86157000-86157200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
28	chr8:86157000-86157200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:86157000-86157200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr8:86157000-86157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:86157000-86157200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:86157000-86157200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:86157000-86157200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:86157000-86157200	Enhancers	Adipose Nuclei	Adipose
35	chr8:86157000-86157200	Enhancers	Brain Anterior Caudate	brain
36	chr8:86157000-86157200	Enhancers	Colonic Mucosa	Colon
37	chr8:86157000-86157200	Enhancers	Colon Smooth Muscle	Colon
38	chr8:86157000-86157200	Enhancers	Duodenum Mucosa	Duodenum
39	chr8:86157000-86157200	Enhancers	Fetal Intestine Large	intestine
40	chr8:86157000-86157200	Enhancers	Fetal Intestine Small	intestine
41	chr8:86157000-86157200	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:86157000-86157200	Enhancers	Right Ventricle	heart
43	chr8:86157000-86157200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:86157000-86157200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
45	chr8:86157000-86157200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr8:86157000-86157200	Enhancers	GM12878-XiMat	blood
47	chr8:86157000-86157200	Enhancers	HMEC	breast
48	chr8:86157000-86157200	Enhancers	K562	blood
49	chr8:86157000-86157200	Enhancers	NH-A	brain
50	chr8:86157000-86157400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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