Variant report

Variant	rs545038193
Chromosome Location	chr5:179599442-179599443
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179598097..179600752-chr5:179603179..179605823,2	K562	blood:
2	chr5:179598082..179600622-chr5:179601152..179603406,2	K562	blood:
3	chr5:179594862..179596612-chr5:179598475..179600165,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv883288	chr5:179537727-179608656	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1030036	chr5:179543546-179610871	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv830562	chr5:179555313-179622441	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv525160	chr5:179597647-179611713	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	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
12	esv3419935	chr5:179599346-179603744	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179595800-179600000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179596400-179602200	Enhancers	Fetal Brain Male	brain
3	chr5:179596800-179600200	Enhancers	Fetal Heart	heart
4	chr5:179596800-179602400	Enhancers	Placenta	Placenta
5	chr5:179596800-179604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:179597000-179601600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:179597200-179600000	Enhancers	Right Ventricle	heart
8	chr5:179597200-179601800	Enhancers	Brain Angular Gyrus	brain
9	chr5:179597200-179602800	Weak transcription	Right Atrium	heart
10	chr5:179597400-179602000	Enhancers	Brain Substantia Nigra	brain
11	chr5:179597400-179607600	Weak transcription	Gastric	stomach
12	chr5:179597400-179608800	Enhancers	Fetal Muscle Leg	muscle
13	chr5:179597600-179600000	Enhancers	Brain Germinal Matrix	brain
14	chr5:179597600-179602000	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:179597600-179604000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr5:179597800-179601800	Enhancers	Brain Anterior Caudate	brain
17	chr5:179597800-179601800	Enhancers	Brain Hippocampus Middle	brain
18	chr5:179597800-179604000	Weak transcription	Ovary	ovary
19	chr5:179597800-179605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:179598400-179599600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:179598600-179600000	Enhancers	Left Ventricle	heart
22	chr5:179598600-179602200	Enhancers	Fetal Stomach	stomach
23	chr5:179598800-179602400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:179599000-179601600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:179599200-179599800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:179599200-179599800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:179599200-179599800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr5:179599200-179599800	Enhancers	Spleen	Spleen
29	chr5:179599200-179600000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr5:179599200-179601600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:179599400-179599600	Bivalent Enhancer	HepG2	liver
32	chr5:179599400-179599800	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr5:179599400-179599800	Enhancers	Colon Smooth Muscle	Colon
34	chr5:179599400-179599800	Enhancers	Fetal Brain Female	brain
35	chr5:179599400-179599800	Enhancers	Fetal Lung	lung
36	chr5:179599400-179600000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:179599400-179601000	Weak transcription	Esophagus	oesophagus
38	chr5:179599400-179602200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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