Variant report

Variant	rs552496366
Chromosome Location	chr5:179086161-179086162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179085589..179087601-chr5:179105143..179107865,2	MCF-7	breast:
2	chr5:179048484..179051740-chr5:179086105..179090360,4	MCF-7	breast:
3	chr5:179085719..179088021-chr5:179125069..179127270,2	K562	blood:
4	chr5:179085577..179087271-chr5:179159837..179161552,2	K562	blood:
5	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
6	chr5:179085578..179087269-chr5:179124562..179126084,2	MCF-7	breast:
7	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:

Variant related genes	Relation type
ENSG00000161021	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1022780	chr5:179061394-179086482	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1017006	chr5:179064433-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1023502	chr5:179086091-179105316	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179084600-179086200	Active TSS	Fetal Brain Female	brain
2	chr5:179084800-179086200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:179084800-179086200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:179084800-179086400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:179085400-179086200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:179085400-179086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:179085400-179086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:179085400-179086200	Active TSS	Brain Angular Gyrus	brain
9	chr5:179085400-179086200	Flanking Active TSS	Dnd41	blood
10	chr5:179085800-179086200	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:179085800-179086200	Enhancers	Liver	Liver
12	chr5:179085800-179086800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:179085800-179087000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:179085800-179087000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:179085800-179087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:179085800-179090000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:179085800-179090000	Weak transcription	Lung	lung
18	chr5:179085800-179090200	Weak transcription	Adipose Nuclei	Adipose
19	chr5:179085800-179090400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:179085800-179090600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:179085800-179090800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:179085800-179090800	Weak transcription	Fetal Lung	lung
23	chr5:179085800-179090800	Weak transcription	Gastric	stomach
24	chr5:179085800-179090800	Weak transcription	Ovary	ovary
25	chr5:179085800-179091200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:179085800-179091200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:179085800-179091200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:179085800-179091200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:179085800-179091400	Weak transcription	Spleen	Spleen
30	chr5:179085800-179092000	Weak transcription	Colonic Mucosa	Colon
31	chr5:179085800-179092200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:179085800-179092200	Weak transcription	Thymus	Thymus
33	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
35	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
36	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:179085800-179104200	Weak transcription	A549	lung
39	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
42	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
43	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
44	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:179086000-179086200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:179086000-179086200	Enhancers	Fetal Intestine Small	intestine
47	chr5:179086000-179086200	Enhancers	Fetal Muscle Trunk	muscle
48	chr5:179086000-179086200	Enhancers	Fetal Stomach	stomach
49	chr5:179086000-179086200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:179086000-179086200	Enhancers	HUVEC	blood vessel

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