Variant report

Variant	rs140562059
Chromosome Location	chr5:58784254-58784255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58784059..58785575-chr5:58790965..58792487,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58778800-58785000	Enhancers	Fetal Brain Male	brain
2	chr5:58779400-58784400	Enhancers	Fetal Brain Female	brain
3	chr5:58779400-58784400	Enhancers	Fetal Heart	heart
4	chr5:58780600-58784600	Enhancers	Fetal Lung	lung
5	chr5:58780800-58785400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:58783000-58784400	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:58783000-58784400	Enhancers	Stomach Mucosa	stomach
8	chr5:58783000-58784400	Flanking Active TSS	A549	lung
9	chr5:58783000-58784800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:58783200-58784600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:58783200-58785400	Weak transcription	Brain Germinal Matrix	brain
12	chr5:58783400-58784600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:58783600-58784400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:58783600-58784800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:58783600-58784800	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:58783600-58785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:58783800-58785000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:58783800-58785800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:58783800-58787800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:58784000-58784800	Weak transcription	Small Intestine	intestine
21	chr5:58784000-58785200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:58784000-58785200	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:58784000-58785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:58784000-58785400	Weak transcription	HSMMtube	muscle
25	chr5:58784000-58791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:58784000-58792200	Weak transcription	Psoas Muscle	Psoas
27	chr5:58784000-58793200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:58784200-58784600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:58784200-58785200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:58784200-58785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:58784200-58785200	Weak transcription	Brain Substantia Nigra	brain

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