Variant report

Variant	rs144153579
Chromosome Location	chr13:80082685-80082686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80053689..80055771-chr13:80081076..80082958,2	K562	blood:

Variant related genes	Relation type
ENSG00000232132	Chromatin interaction
ENSG00000102471	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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3380861	chr13:80080701-80082699	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2651677	chr13:80081248-80082970	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
3	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
4	chr13:80067200-80095000	Weak transcription	HSMM	muscle
5	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
7	chr13:80076200-80093200	Weak transcription	HMEC	breast
8	chr13:80077600-80088800	Weak transcription	Brain Angular Gyrus	brain
9	chr13:80077600-80095600	Weak transcription	Fetal Intestine Large	intestine
10	chr13:80077800-80082800	Weak transcription	Right Atrium	heart
11	chr13:80077800-80089000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
13	chr13:80078000-80097800	Weak transcription	Ovary	ovary
14	chr13:80078200-80088600	Weak transcription	Fetal Heart	heart
15	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
16	chr13:80078800-80085800	Enhancers	Dnd41	blood
17	chr13:80079600-80086600	Weak transcription	Gastric	stomach
18	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:80082200-80083000	Enhancers	HUVEC	blood vessel
20	chr13:80082200-80083000	Enhancers	NH-A	brain
21	chr13:80082200-80083200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:80082400-80082800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:80082400-80082800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:80082400-80082800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:80082400-80082800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr13:80082400-80083000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:80082400-80083400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr13:80082600-80082800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:80082600-80082800	Enhancers	Lung	lung
30	chr13:80082600-80083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:80082600-80083000	Enhancers	Small Intestine	intestine
32	chr13:80082600-80083000	Enhancers	Stomach Mucosa	stomach
33	chr13:80082600-80083000	Enhancers	Osteobl	bone
34	chr13:80082600-80083400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:80082600-80083400	Enhancers	Left Ventricle	heart
36	chr13:80082600-80083400	Enhancers	NHEK	skin

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