Variant report

Variant	rs56116698
Chromosome Location	chr1:112485586-112485587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112484354..112486554-chr1:112501910..112505122,3	MCF-7	breast:
2	chr1:112479613..112481228-chr1:112483935..112486309,2	MCF-7	breast:
3	chr1:112485174..112488783-chr1:112490322..112492098,3	MCF-7	breast:
4	chr1:112485426..112487955-chr1:112531509..112534418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231437	Chromatin interaction
ENSG00000171385	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74109733	1.00[AFR][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	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112463400-112506600	Weak transcription	Aorta	Aorta
2	chr1:112464400-112490400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:112465400-112485600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:112466800-112488400	Weak transcription	Pancreas	Pancrea
5	chr1:112467800-112490400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:112473000-112510400	Weak transcription	Liver	Liver
7	chr1:112478200-112486000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:112479800-112490600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:112480000-112490600	Weak transcription	Gastric	stomach
10	chr1:112480200-112490400	Weak transcription	Brain Angular Gyrus	brain
11	chr1:112480400-112490600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:112482000-112490600	Weak transcription	Esophagus	oesophagus
13	chr1:112482600-112490200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:112483400-112488600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:112483800-112488400	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:112484400-112486800	Enhancers	Brain Germinal Matrix	brain
17	chr1:112484400-112488200	Enhancers	Right Ventricle	heart
18	chr1:112484600-112486800	Weak transcription	Fetal Brain Male	brain
19	chr1:112485000-112489200	Enhancers	Left Ventricle	heart
20	chr1:112485200-112485800	Enhancers	Right Atrium	heart
21	chr1:112485200-112485800	Enhancers	Spleen	Spleen
22	chr1:112485200-112486400	Weak transcription	Fetal Brain Female	brain
23	chr1:112485200-112486800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:112485400-112487000	Enhancers	Skeletal Muscle Male	skeletal muscle

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