Variant report

Variant	rs58274809
Chromosome Location	chr4:148713167-148713168
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	chr4:148662885..148664901-chr4:148710340..148713204,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10001327	1.00[ASN][1000 genomes]
rs10519917	0.81[ASN][1000 genomes]
rs1119887	0.88[AFR][1000 genomes]
rs11935450	0.81[ASN][1000 genomes]
rs11935510	0.81[ASN][1000 genomes]
rs11935620	0.81[ASN][1000 genomes]
rs11940379	0.81[ASN][1000 genomes]
rs17023844	0.88[AFR][1000 genomes]
rs17023845	0.86[ASN][1000 genomes]
rs17023846	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17023870	0.81[ASN][1000 genomes]
rs2134707	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55714518	0.88[AFR][1000 genomes]
rs58068435	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58762227	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59535925	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60042554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:148704000-148714600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:148706600-148713400	Weak transcription	Thymus	Thymus
6	chr4:148707800-148714600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:148708400-148714800	Weak transcription	Small Intestine	intestine
8	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:148708600-148713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:148709000-148713600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:148709000-148714000	Weak transcription	Aorta	Aorta
12	chr4:148709000-148714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:148709000-148714600	Weak transcription	NH-A	brain
14	chr4:148709000-148714800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:148709000-148721200	Weak transcription	Lung	lung
16	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
19	chr4:148709200-148713600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:148709200-148714600	Weak transcription	Osteobl	bone
21	chr4:148710400-148713200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:148710400-148713600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:148710400-148713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:148710400-148714600	Weak transcription	Fetal Intestine Large	intestine
25	chr4:148710400-148729600	Weak transcription	HSMM	muscle
26	chr4:148710600-148713200	Weak transcription	Fetal Thymus	thymus
27	chr4:148710600-148713200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:148710600-148714600	Weak transcription	Fetal Lung	lung
29	chr4:148710800-148713200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:148710800-148714600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:148710800-148714600	Weak transcription	Right Atrium	heart
32	chr4:148710800-148714600	Weak transcription	Right Ventricle	heart
33	chr4:148711000-148714600	Weak transcription	NHLF	lung
34	chr4:148711000-148714800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:148711000-148714800	Weak transcription	Fetal Kidney	kidney
36	chr4:148711000-148720200	Weak transcription	Fetal Stomach	stomach
37	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:148711200-148713800	Enhancers	NHEK	skin
39	chr4:148711200-148714600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:148711400-148713200	Weak transcription	GM12878-XiMat	blood
41	chr4:148711400-148713800	Weak transcription	Left Ventricle	heart
42	chr4:148711400-148714000	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:148711400-148714600	Weak transcription	Adipose Nuclei	Adipose
44	chr4:148711600-148713400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:148711600-148713400	Weak transcription	Stomach Mucosa	stomach
46	chr4:148711600-148714000	Weak transcription	Psoas Muscle	Psoas
47	chr4:148711600-148714800	Weak transcription	NHDF-Ad	bronchial
48	chr4:148711600-148721200	Weak transcription	Pancreas	Pancrea
49	chr4:148711800-148713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:148711800-148714600	Weak transcription	HMEC	breast

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