Variant report

Variant	rs28625493
Chromosome Location	chr18:43968335-43968336
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	chr18:43913578..43915113-chr18:43966541..43968563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16978560	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28463123	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28642302	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28689134	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28700072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3889748	0.88[AFR][1000 genomes]
rs9966500	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv576812	chr18:43946837-43976847	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43939400-43976600	Weak transcription	Hela-S3	cervix
2	chr18:43949400-43972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43956400-43978400	Weak transcription	Liver	Liver
4	chr18:43963000-43972600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:43964000-43970400	Enhancers	Fetal Muscle Leg	muscle
6	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr18:43965000-43969400	Enhancers	Fetal Heart	heart
8	chr18:43965000-43969600	Enhancers	Fetal Brain Female	brain
9	chr18:43965800-43970000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:43966200-43968400	Enhancers	HSMMtube	muscle
11	chr18:43966200-43968600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:43966200-43968800	Enhancers	Fetal Stomach	stomach
13	chr18:43966200-43970400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:43966400-43968600	Enhancers	Fetal Lung	lung
15	chr18:43966400-43968600	Enhancers	Fetal Thymus	thymus
16	chr18:43966600-43968400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr18:43966600-43968600	Enhancers	Lung	lung
18	chr18:43966600-43968600	Enhancers	Psoas Muscle	Psoas
19	chr18:43966600-43968600	Enhancers	Rectal Smooth Muscle	rectum
20	chr18:43966600-43968800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:43966600-43969200	Enhancers	Right Atrium	heart
22	chr18:43966800-43968600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:43966800-43968600	Enhancers	Brain Substantia Nigra	brain
24	chr18:43966800-43968600	Enhancers	Placenta	Placenta
25	chr18:43966800-43968600	Enhancers	Spleen	Spleen
26	chr18:43966800-43969000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:43966800-43969200	Enhancers	HMEC	breast
28	chr18:43967000-43968400	Enhancers	Fetal Kidney	kidney
29	chr18:43967000-43968600	Enhancers	Left Ventricle	heart
30	chr18:43967200-43968800	Enhancers	Colon Smooth Muscle	Colon
31	chr18:43967200-43969400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:43967200-43972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:43967400-43968800	Flanking Active TSS	NHEK	skin
34	chr18:43967400-43970800	Enhancers	Fetal Muscle Trunk	muscle
35	chr18:43967600-43968400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:43967600-43968400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:43967600-43969200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr18:43967600-43969200	Enhancers	Stomach Smooth Muscle	stomach
39	chr18:43967600-43971600	Weak transcription	Fetal Brain Male	brain
40	chr18:43967800-43969200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr18:43967800-43981000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:43968000-43969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:43968000-43980000	Weak transcription	Brain Germinal Matrix	brain
44	chr18:43968200-43968800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:43968200-43969400	Weak transcription	Esophagus	oesophagus
46	chr18:43968200-43972400	Weak transcription	Right Ventricle	heart
47	chr18:43968200-43975800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:43968200-43977000	Weak transcription	Adipose Nuclei	Adipose

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