Variant report

Variant	rs56780714
Chromosome Location	chr8:58995383-58995384
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	chr8:58982607..58985175-chr8:58994620..58997255,2	K562	blood:
2	chr8:58980492..58983860-chr8:58994101..58997758,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10504240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504241	0.94[ASN][1000 genomes]
rs1507080	0.95[EUR][1000 genomes]
rs1507081	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16923020	0.94[ASN][1000 genomes]
rs16923023	0.94[ASN][1000 genomes]
rs16923044	0.95[EUR][1000 genomes]
rs16923053	0.95[EUR][1000 genomes]
rs16923066	0.90[EUR][1000 genomes]
rs17240058	0.90[EUR][1000 genomes]
rs56084388	0.95[EUR][1000 genomes]
rs56171966	0.95[EUR][1000 genomes]
rs57599317	0.95[EUR][1000 genomes]
rs59496630	0.90[EUR][1000 genomes]
rs6471683	0.95[EUR][1000 genomes]
rs72660384	0.90[EUR][1000 genomes]
rs72660388	0.95[EUR][1000 genomes]
rs72660390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72660399	0.95[EUR][1000 genomes]
rs72660400	0.95[EUR][1000 genomes]
rs72660402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840512	0.90[EUR][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:58980600-58999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:58983400-59003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:58983600-59001200	Weak transcription	Fetal Kidney	kidney
5	chr8:58984000-59003600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:58984400-58999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:58984600-59003200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:58984600-59004200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:58987400-58999200	Weak transcription	Right Atrium	heart
10	chr8:58987400-59003600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:58987400-59010800	Weak transcription	Psoas Muscle	Psoas
12	chr8:58989200-59014400	Weak transcription	Aorta	Aorta
13	chr8:58989400-58999400	Weak transcription	Lung	lung
14	chr8:58990000-59003800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:58990200-59001200	Weak transcription	Adipose Nuclei	Adipose
16	chr8:58990200-59001200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:58990200-59003600	Weak transcription	Spleen	Spleen
18	chr8:58990400-58996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:58990400-58999800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:58990400-58999800	Weak transcription	Fetal Lung	lung
21	chr8:58990400-59002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:58990400-59003000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:58990400-59003400	Weak transcription	Fetal Brain Female	brain
24	chr8:58990400-59003600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:58990400-59003800	Weak transcription	Fetal Brain Male	brain
26	chr8:58990400-59004400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:58991800-58999400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:58991800-58999400	Weak transcription	Left Ventricle	heart
29	chr8:58991800-58999600	Weak transcription	NHDF-Ad	bronchial
30	chr8:58992000-58995800	Weak transcription	HSMM	muscle
31	chr8:58992000-59004800	Weak transcription	HSMMtube	muscle
32	chr8:58992000-59007000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:58992200-58998200	Weak transcription	Liver	Liver
34	chr8:58992200-59010800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:58992400-58999000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:58992800-58999400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:58993000-59003600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:58993400-58996600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:58993600-58999200	Weak transcription	Fetal Heart	heart
40	chr8:58993800-58995800	Weak transcription	Right Ventricle	heart
41	chr8:58993800-58999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:58994000-58997200	Weak transcription	Fetal Stomach	stomach
43	chr8:58995000-58998200	Strong transcription	Fetal Muscle Leg	muscle

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