Variant report

Variant	rs561889167
Chromosome Location	chr5:58783909-58783910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	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	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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:45 , 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	chr5:58781600-58784200	Enhancers	Brain Substantia Nigra	brain
7	chr5:58782400-58784000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:58782400-58784000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:58782600-58784000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:58782800-58784000	Enhancers	Brain Hippocampus Middle	brain
11	chr5:58782800-58784200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:58783000-58784000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:58783000-58784000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:58783000-58784400	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:58783000-58784400	Enhancers	Stomach Mucosa	stomach
16	chr5:58783000-58784400	Flanking Active TSS	A549	lung
17	chr5:58783000-58784800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:58783200-58784000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:58783200-58784000	Enhancers	Fetal Kidney	kidney
20	chr5:58783200-58784200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:58783200-58784600	Enhancers	Colon Smooth Muscle	Colon
22	chr5:58783200-58785400	Weak transcription	Brain Germinal Matrix	brain
23	chr5:58783400-58784200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:58783400-58784600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:58783600-58784000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:58783600-58784000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:58783600-58784000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr5:58783600-58784000	Enhancers	Fetal Muscle Leg	muscle
29	chr5:58783600-58784000	Enhancers	Fetal Stomach	stomach
30	chr5:58783600-58784000	Enhancers	Gastric	stomach
31	chr5:58783600-58784000	Enhancers	Pancreas	Pancrea
32	chr5:58783600-58784000	Enhancers	Psoas Muscle	Psoas
33	chr5:58783600-58784000	Enhancers	Right Atrium	heart
34	chr5:58783600-58784000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr5:58783600-58784000	Enhancers	HSMMtube	muscle
36	chr5:58783600-58784000	Enhancers	NH-A	brain
37	chr5:58783600-58784400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:58783600-58784800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:58783600-58784800	Enhancers	Rectal Smooth Muscle	rectum
40	chr5:58783600-58785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:58783800-58784000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr5:58783800-58784000	Enhancers	Small Intestine	intestine
43	chr5:58783800-58785000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:58783800-58785800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:58783800-58787800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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