Variant report

Variant	rs148292513
Chromosome Location	chr5:58518907-58518908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58506400-58520400	Weak transcription	Stomach Mucosa	stomach
4	chr5:58510400-58520000	Weak transcription	Right Ventricle	heart
5	chr5:58511800-58521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
7	chr5:58514200-58519200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:58516000-58519000	Enhancers	A549	lung
9	chr5:58516000-58530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:58516200-58519200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
12	chr5:58517200-58519600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:58517200-58519800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:58517800-58519000	Enhancers	Right Atrium	heart
15	chr5:58517800-58519400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:58517800-58520200	Enhancers	Colon Smooth Muscle	Colon
17	chr5:58518000-58519000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:58518000-58520400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr5:58518200-58519000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:58518200-58519000	Enhancers	Gastric	stomach
21	chr5:58518200-58519200	Enhancers	Left Ventricle	heart
22	chr5:58518200-58519400	Enhancers	Fetal Kidney	kidney
23	chr5:58518200-58519400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:58518200-58519400	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:58518200-58519400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:58518400-58519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:58518400-58520200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:58518400-58520400	Enhancers	Hela-S3	cervix
29	chr5:58518400-58527000	Weak transcription	Fetal Heart	heart
30	chr5:58518600-58519400	Enhancers	NHEK	skin
31	chr5:58518600-58519600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:58518800-58519000	Enhancers	Primary hematopoietic stem cells	blood
33	chr5:58518800-58519000	Enhancers	Fetal Stomach	stomach
34	chr5:58518800-58519000	Enhancers	NH-A	brain
35	chr5:58518800-58519200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:58518800-58519200	Flanking Active TSS	HUVEC	blood vessel
37	chr5:58518800-58519400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:58518800-58519400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:58518800-58519400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:58518800-58519400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:58518800-58519400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:58518800-58519400	Enhancers	Fetal Intestine Large	intestine
43	chr5:58518800-58519600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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