Variant report

Variant	rs4978559
Chromosome Location	chr9:110499323-110499324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110498957..110503711-chr9:110512687..110515100,7	MCF-7	breast:
2	chr9:110250039..110253502-chr9:110497818..110500314,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2417804	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477596	0.95[ASN][1000 genomes]
rs6477598	0.82[AMR][1000 genomes]
rs7044046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860653	0.82[AMR][1000 genomes]
rs944175	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110495200-110501800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110495800-110504200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:110496000-110500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:110496000-110500400	Weak transcription	A549	lung
5	chr9:110496000-110500800	Weak transcription	Pancreas	Pancrea
6	chr9:110496000-110503200	Enhancers	Fetal Lung	lung
7	chr9:110496000-110503600	Enhancers	Ovary	ovary
8	chr9:110496000-110510800	Weak transcription	Aorta	Aorta
9	chr9:110496200-110500000	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:110496200-110500000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:110496200-110500000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:110496200-110500000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:110496200-110500000	Weak transcription	Stomach Mucosa	stomach
14	chr9:110496200-110500200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:110496200-110500200	Weak transcription	Small Intestine	intestine
16	chr9:110496200-110500200	Enhancers	Hela-S3	cervix
17	chr9:110496200-110500800	Weak transcription	Brain Anterior Caudate	brain
18	chr9:110496200-110502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:110496200-110502400	Weak transcription	Gastric	stomach
20	chr9:110496200-110502400	Enhancers	Osteobl	bone
21	chr9:110496800-110500000	Weak transcription	NH-A	brain
22	chr9:110496800-110500200	Weak transcription	Colonic Mucosa	Colon
23	chr9:110496800-110501000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:110497000-110499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:110497000-110500200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:110497000-110500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:110497000-110503000	Enhancers	NHDF-Ad	bronchial
28	chr9:110497000-110503000	Enhancers	NHLF	lung
29	chr9:110497200-110502000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:110497200-110502000	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:110497200-110506600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr9:110497200-110506800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:110497400-110499600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:110497400-110499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:110497400-110499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:110497400-110500200	Weak transcription	Right Ventricle	heart
37	chr9:110497400-110500200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:110497400-110500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:110497400-110500400	Weak transcription	HSMMtube	muscle
40	chr9:110497400-110500600	Weak transcription	Fetal Brain Male	brain
41	chr9:110497400-110500800	Weak transcription	Right Atrium	heart
42	chr9:110497400-110503800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:110497400-110510800	Weak transcription	Psoas Muscle	Psoas
44	chr9:110497600-110499800	Weak transcription	Adipose Nuclei	Adipose
45	chr9:110497600-110499800	Weak transcription	NHEK	skin
46	chr9:110497600-110500000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:110497600-110500400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:110498200-110503000	Enhancers	Fetal Stomach	stomach
49	chr9:110498600-110499800	Weak transcription	HMEC	breast
50	chr9:110498600-110500600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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