Variant report

Variant	rs575578374
Chromosome Location	chr5:114876292-114876293
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114872131..114874195-chr5:114874384..114876871,2	MCF-7	breast:
2	chr5:114870046..114871711-chr5:114873556..114876513,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv965571	chr5:114874943-114878934	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
4	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
5	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
7	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
8	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:114863600-114878600	Weak transcription	Gastric	stomach
10	chr5:114868400-114878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:114870000-114877400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:114871000-114876400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:114871200-114879200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:114871600-114876600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr5:114872200-114877400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:114872400-114876600	Weak transcription	HSMMtube	muscle
17	chr5:114872400-114877000	Enhancers	Colon Smooth Muscle	Colon
18	chr5:114872600-114879400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
19	chr5:114872800-114876400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:114873200-114876600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:114873400-114877200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:114873800-114877400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:114874000-114876600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr5:114874000-114877000	Genic enhancers	Hela-S3	cervix
25	chr5:114874000-114878000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:114874000-114878200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:114874000-114879200	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:114874400-114876400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:114874400-114878000	Weak transcription	Stomach Mucosa	stomach
31	chr5:114874400-114878800	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:114874600-114878800	Active TSS	Right Ventricle	heart
33	chr5:114874800-114877200	Weak transcription	Aorta	Aorta
34	chr5:114875000-114876400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr5:114875000-114876600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
36	chr5:114875000-114876800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:114875000-114877000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:114875000-114877000	Genic enhancers	HSMM	muscle
39	chr5:114875200-114876400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:114875200-114876400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr5:114875200-114876800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr5:114875200-114877000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:114875400-114876400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:114875400-114876600	Genic enhancers	A549	lung
45	chr5:114875400-114877000	Weak transcription	Thymus	Thymus
46	chr5:114875400-114877200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:114875400-114877200	Transcr. at gene 5' and 3'	Osteobl	bone
48	chr5:114875400-114877400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr5:114875400-114877400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
50	chr5:114875400-114877800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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