Variant report

Variant	rs58138119
Chromosome Location	chr5:127149613-127149614
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127148666..127150233-chr5:127258444..127260083,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59820375	1.00[AMR][1000 genomes]
rs73331823	1.00[AMR][1000 genomes]
rs73331851	1.00[AMR][1000 genomes]
rs73347003	1.00[AMR][1000 genomes]
rs73347010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347046	1.00[AMR][1000 genomes]
rs73347053	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127139200-127151800	Weak transcription	Stomach Mucosa	stomach
2	chr5:127145000-127151000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:127145800-127149800	Weak transcription	Fetal Brain Male	brain
4	chr5:127146400-127149800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:127147400-127150600	Enhancers	HMEC	breast
6	chr5:127147400-127151000	Enhancers	NHDF-Ad	bronchial
7	chr5:127147400-127151000	Enhancers	NHLF	lung
8	chr5:127147600-127150600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:127147800-127150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:127148000-127149800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:127148000-127149800	Enhancers	NH-A	brain
12	chr5:127148000-127150000	Enhancers	Hela-S3	cervix
13	chr5:127148000-127150800	Enhancers	HSMMtube	muscle
14	chr5:127148000-127151200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:127148000-127151200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:127148000-127151200	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:127148200-127150600	Enhancers	HUVEC	blood vessel
18	chr5:127148200-127150600	Enhancers	Osteobl	bone
19	chr5:127148200-127151000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:127148400-127150000	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:127148400-127150200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:127148400-127150200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:127148400-127150400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:127148400-127150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:127148400-127150400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:127148400-127150600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:127148400-127150600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:127148400-127151000	Enhancers	HSMM	muscle
29	chr5:127148400-127152400	Enhancers	Fetal Stomach	stomach
30	chr5:127148600-127150200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:127148600-127150600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:127148800-127149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:127148800-127149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:127148800-127149800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:127148800-127150000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:127148800-127150000	Enhancers	Fetal Intestine Large	intestine
37	chr5:127148800-127151400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:127149000-127149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:127149000-127150000	Weak transcription	Esophagus	oesophagus
40	chr5:127149000-127154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:127149200-127150000	Enhancers	Fetal Muscle Leg	muscle
42	chr5:127149200-127150000	Flanking Active TSS	NHEK	skin
43	chr5:127149200-127151200	Enhancers	Ovary	ovary
44	chr5:127149400-127149800	Active TSS	A549	lung
45	chr5:127149400-127150200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:127149400-127151000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:127149600-127149800	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr5:127149600-127150200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:127149600-127150200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:127149600-127150600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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