Variant report

Variant	rs192452515
Chromosome Location	chr5:179635229-179635230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
2	chr17:11900847..11902529-chr5:179633459..179635305,2	MCF-7	breast:
3	chr5:179633062..179635561-chr5:179636902..179639752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3429077	chr5:179635146-179637594	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179620600-179635400	Weak transcription	Right Atrium	heart
2	chr5:179634200-179635400	Enhancers	Fetal Brain Male	brain
3	chr5:179634400-179636600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:179634600-179635400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179634600-179635400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr5:179634600-179635600	Bivalent Enhancer	Esophagus	oesophagus
7	chr5:179634600-179636800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:179634800-179635400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179634800-179635400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179634800-179635400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr5:179634800-179635400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:179634800-179635400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:179634800-179635400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:179634800-179635400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:179634800-179635400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:179634800-179635400	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr5:179634800-179635400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:179634800-179635400	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr5:179634800-179635400	Bivalent Enhancer	Fetal Lung	lung
20	chr5:179634800-179635600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:179634800-179635800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr5:179634800-179635800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr5:179634800-179635800	Flanking Bivalent TSS/Enh	Placenta	Placenta
24	chr5:179634800-179636000	Enhancers	Fetal Heart	heart
25	chr5:179634800-179636400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:179634800-179636600	Enhancers	Gastric	stomach
27	chr5:179634800-179636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:179635000-179635400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr5:179635000-179635400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
30	chr5:179635000-179635600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:179635000-179635600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr5:179635000-179635600	Enhancers	Ovary	ovary
33	chr5:179635000-179635600	Bivalent Enhancer	Spleen	Spleen
34	chr5:179635000-179635800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:179635000-179635800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr5:179635000-179635800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:179635000-179635800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr5:179635000-179635800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr5:179635000-179635800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr5:179635200-179635400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:179635200-179635400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr5:179635200-179635400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr5:179635200-179635400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr5:179635200-179635400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:179635200-179635400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:179635200-179635400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:179635200-179635400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr5:179635200-179635400	Active TSS	Right Ventricle	heart
49	chr5:179635200-179635400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr5:179635200-179635400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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