Variant report

Variant	rs28446393
Chromosome Location	chr4:129277523-129277524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129206935..129210140-chr4:129275617..129278432,3	MCF-7	breast:
2	chr4:129277469..129279928-chr4:129306182..129308893,2	MCF-7	breast:
3	chr4:129269995..129272943-chr4:129273373..129277860,4	K562	blood:
4	chr4:129275182..129277795-chr4:129285636..129287200,2	K562	blood:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17013120	0.92[AFR][1000 genomes]
rs17013176	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013178	1.00[AMR][1000 genomes]
rs28427407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529644	1.00[AMR][1000 genomes]
rs28611216	1.00[AMR][1000 genomes]
rs28753719	1.00[AMR][1000 genomes]
rs73846923	1.00[AMR][1000 genomes]
rs73846925	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129251400-129279600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:129268800-129280000	Weak transcription	Psoas Muscle	Psoas
3	chr4:129269600-129278400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:129270600-129291800	Weak transcription	Aorta	Aorta
5	chr4:129271200-129281200	Enhancers	Placenta	Placenta
6	chr4:129274600-129281600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:129274800-129283200	Enhancers	Fetal Heart	heart
8	chr4:129275200-129277800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:129275600-129278200	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:129275600-129279000	Weak transcription	Lung	lung
11	chr4:129275600-129279200	Weak transcription	Esophagus	oesophagus
12	chr4:129275600-129279600	Weak transcription	Pancreas	Pancrea
13	chr4:129275800-129278000	Weak transcription	Fetal Brain Male	brain
14	chr4:129275800-129279400	Weak transcription	Gastric	stomach
15	chr4:129275800-129283800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:129276000-129279200	Weak transcription	Fetal Brain Female	brain
17	chr4:129276200-129278600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:129276400-129278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:129276600-129277600	Weak transcription	Fetal Kidney	kidney
20	chr4:129276600-129277800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:129276800-129277600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:129276800-129278200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:129276800-129278200	Weak transcription	HSMMtube	muscle
24	chr4:129276800-129278600	Weak transcription	Left Ventricle	heart
25	chr4:129276800-129279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:129276800-129279000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:129276800-129279200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:129276800-129279200	Weak transcription	HMEC	breast
29	chr4:129276800-129279200	Weak transcription	NH-A	brain
30	chr4:129276800-129279400	Weak transcription	Ovary	ovary
31	chr4:129276800-129279600	Weak transcription	Stomach Mucosa	stomach
32	chr4:129276800-129279800	Weak transcription	Small Intestine	intestine
33	chr4:129277000-129277600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:129277000-129277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:129277000-129278000	Weak transcription	A549	lung
36	chr4:129277000-129278000	Weak transcription	HUVEC	blood vessel
37	chr4:129277000-129278000	Weak transcription	Osteobl	bone
38	chr4:129277000-129278200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:129277000-129278200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:129277000-129278200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:129277000-129278200	Weak transcription	HSMM	muscle
42	chr4:129277000-129278200	Weak transcription	NHLF	lung
43	chr4:129277000-129278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:129277000-129278400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:129277000-129278400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:129277000-129278600	Weak transcription	Adipose Nuclei	Adipose
47	chr4:129277000-129278800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:129277000-129279200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:129277000-129279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:129277200-129277600	Weak transcription	K562	blood

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