Variant report

Variant	rs7839394
Chromosome Location	chr8:110553594-110553595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110532017..110535509-chr8:110550359..110553902,4	K562	blood:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
4	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
5	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
6	chr8:110351472..110353589-chr8:110551719..110554657,2	K562	blood:
7	chr8:110550506..110554029-chr8:110560195..110563108,6	MCF-7	breast:
8	chr8:110532422..110535509-chr8:110550359..110553902,3	K562	blood:
9	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
10	chr8:110552868..110555274-chr8:110604412..110606695,2	MCF-7	breast:
11	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
12	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
13	chr8:110551988..110555719-chr8:110561035..110566674,6	K562	blood:
14	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
15	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000205038	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12541569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543415	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548910	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450206	1.00[ASN][1000 genomes]
rs17450520	0.94[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734661	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982592	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6988341	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669109	0.81[AFR][1000 genomes]
rs72669122	0.87[AFR][1000 genomes]
rs72669131	0.87[AFR][1000 genomes]
rs7813648	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824177	1.00[ASN][1000 genomes]
rs7828075	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110550800-110553600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:110551200-110553600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:110551200-110553600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:110551200-110553600	Active TSS	Psoas Muscle	Psoas
5	chr8:110551200-110553600	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr8:110551200-110553800	Active TSS	Brain Anterior Caudate	brain
7	chr8:110551200-110553800	Active TSS	Pancreas	Pancrea
8	chr8:110551200-110553800	Active TSS	Right Ventricle	heart
9	chr8:110551200-110554000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:110551200-110554000	Active TSS	NHDF-Ad	bronchial
11	chr8:110551400-110553600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:110551400-110553600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:110551400-110553600	Active TSS	A549	lung
14	chr8:110551400-110553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:110551400-110553800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:110551400-110553800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:110551400-110553800	Active TSS	NHLF	lung
18	chr8:110551400-110554000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:110551400-110554400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:110551400-110555400	Active TSS	K562	blood
21	chr8:110551600-110553600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:110551600-110553600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:110551600-110553600	Active TSS	Fetal Kidney	kidney
24	chr8:110551600-110553600	Active TSS	GM12878-XiMat	blood
25	chr8:110551600-110553600	Active TSS	HSMM	muscle
26	chr8:110551600-110553600	Active TSS	HSMMtube	muscle
27	chr8:110551600-110553600	Active TSS	NHEK	skin
28	chr8:110551600-110553800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:110551600-110553800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:110551600-110553800	Active TSS	Stomach Smooth Muscle	stomach
31	chr8:110552200-110553800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr8:110552200-110554200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:110552400-110553800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:110552600-110553600	Active TSS	Right Atrium	heart
35	chr8:110552600-110553600	Active TSS	HMEC	breast
36	chr8:110552800-110553600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr8:110552800-110553600	Weak transcription	Gastric	stomach
38	chr8:110552800-110553600	Weak transcription	Spleen	Spleen
39	chr8:110552800-110553800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr8:110552800-110554000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:110552800-110554600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr8:110553000-110553600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:110553000-110553600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:110553000-110553600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:110553000-110553600	Weak transcription	Aorta	Aorta
46	chr8:110553000-110553600	Weak transcription	Left Ventricle	heart
47	chr8:110553000-110553600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:110553000-110553800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:110553000-110553800	Weak transcription	Small Intestine	intestine
50	chr8:110553000-110554000	Flanking Active TSS	Primary T cells from cord blood	blood

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