Variant report

Variant	rs28427407
Chromosome Location	chr4:129270926-129270927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129207774..129210662-chr4:129269484..129272755,4	MCF-7	breast:
2	chr4:129269429..129272498-chr4:129272525..129275810,3	MCF-7	breast:
3	chr4:129207538..129209667-chr4:129269952..129275189,5	MCF-7	breast:
4	chr4:129249467..129251901-chr4:129268979..129271934,2	K562	blood:
5	chr4:129269955..129272273-chr4:129274435..129276515,2	MCF-7	breast:
6	chr4:129208235..129210983-chr4:129268289..129271195,2	K562	blood:
7	chr4:129269995..129272943-chr4:129273373..129277860,4	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]
rs28446393	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:52 , 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	chr4:129260600-129271200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:129263000-129274200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:129266600-129273400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:129266800-129275200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:129268400-129272000	Enhancers	Hela-S3	cervix
7	chr4:129268600-129271600	Enhancers	NHLF	lung
8	chr4:129268800-129271200	Weak transcription	Adipose Nuclei	Adipose
9	chr4:129268800-129280000	Weak transcription	Psoas Muscle	Psoas
10	chr4:129269000-129275000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:129269200-129273400	Enhancers	K562	blood
12	chr4:129269400-129274000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:129269600-129271000	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:129269600-129271200	Weak transcription	Placenta	Placenta
15	chr4:129269600-129271400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:129269600-129271400	Weak transcription	Ovary	ovary
17	chr4:129269600-129275000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:129269600-129275400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:129269600-129276400	Weak transcription	Left Ventricle	heart
20	chr4:129269600-129278400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:129269800-129271200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:129269800-129274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:129269800-129274800	Weak transcription	HUVEC	blood vessel
24	chr4:129269800-129275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:129269800-129275200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:129269800-129275200	Weak transcription	HMEC	breast
27	chr4:129269800-129275200	Weak transcription	NHEK	skin
28	chr4:129270000-129271000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:129270000-129271600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:129270200-129271200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:129270200-129271200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:129270200-129271200	Weak transcription	Fetal Heart	heart
33	chr4:129270200-129271200	Weak transcription	Osteobl	bone
34	chr4:129270200-129271400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:129270200-129271600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:129270200-129274200	Weak transcription	HSMM	muscle
37	chr4:129270200-129274200	Weak transcription	HSMMtube	muscle
38	chr4:129270200-129274800	Weak transcription	NH-A	brain
39	chr4:129270200-129275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:129270200-129275000	Weak transcription	NHDF-Ad	bronchial
41	chr4:129270200-129275200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:129270200-129275400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:129270600-129271200	Enhancers	Liver	Liver
44	chr4:129270600-129272000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:129270600-129291800	Weak transcription	Aorta	Aorta
46	chr4:129270800-129271600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:129270800-129271600	Enhancers	HepG2	liver
48	chr4:129270800-129271800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr4:129270800-129272000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:129270800-129272000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links