Variant report

Variant	rs7839449
Chromosome Location	chr8:110553762-110553763
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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:

No data

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28646154	0.93[EUR][1000 genomes]
rs59024706	1.00[EUR][1000 genomes]
rs73317043	0.93[EUR][1000 genomes]
rs73700659	1.00[EUR][1000 genomes]
rs7838445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	chr8:110551200-110553800	Active TSS	Brain Anterior Caudate	brain
2	chr8:110551200-110553800	Active TSS	Pancreas	Pancrea
3	chr8:110551200-110553800	Active TSS	Right Ventricle	heart
4	chr8:110551200-110554000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:110551200-110554000	Active TSS	NHDF-Ad	bronchial
6	chr8:110551400-110553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:110551400-110553800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:110551400-110553800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:110551400-110553800	Active TSS	NHLF	lung
10	chr8:110551400-110554000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:110551400-110554400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:110551400-110555400	Active TSS	K562	blood
13	chr8:110551600-110553800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:110551600-110553800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:110551600-110553800	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:110552200-110553800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:110552200-110554200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:110552400-110553800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:110552800-110553800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr8:110552800-110554000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:110552800-110554600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr8:110553000-110553800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:110553000-110553800	Weak transcription	Small Intestine	intestine
24	chr8:110553000-110554000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr8:110553000-110554000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr8:110553000-110554000	Enhancers	Fetal Brain Male	brain
27	chr8:110553000-110554400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr8:110553000-110564200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:110553000-110565000	Weak transcription	Ovary	ovary
30	chr8:110553000-110565600	Weak transcription	Placenta	Placenta
31	chr8:110553000-110569800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:110553000-110569800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:110553000-110570000	Weak transcription	Lung	lung
34	chr8:110553000-110571800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:110553000-110587000	Weak transcription	Esophagus	oesophagus
36	chr8:110553200-110553800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:110553200-110554000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:110553200-110554000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:110553200-110554000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:110553200-110554200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:110553200-110554200	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:110553200-110554200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr8:110553200-110554400	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:110553200-110554600	Enhancers	Brain Hippocampus Middle	brain
45	chr8:110553200-110554600	Enhancers	Colon Smooth Muscle	Colon
46	chr8:110553200-110555000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr8:110553200-110555000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:110553200-110555200	Enhancers	Brain Angular Gyrus	brain
49	chr8:110553200-110555600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:110553200-110557000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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