Variant report

Variant	rs73850454
Chromosome Location	chr4:144440743-144440744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144440341..144443595-chr4:144453143..144456786,3	MCF-7	breast:
2	chr4:144434447..144436320-chr4:144440618..144442260,2	MCF-7	breast:
3	chr4:144436657..144439428-chr4:144440066..144442623,2	MCF-7	breast:
4	chr4:144434271..144436416-chr4:144437640..144441951,5	K562	blood:

Variant related genes	Relation type
ENSG00000245112	Chromatin interaction
ENSG00000153147	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73850418	1.00[AFR][1000 genomes]
rs73850419	1.00[AFR][1000 genomes]
rs73850423	1.00[AFR][1000 genomes]
rs73852625	1.00[AFR][1000 genomes]

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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv830103	chr4:144393398-144553045	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1025212	chr4:144402841-144523938	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144436000-144476000	Weak transcription	Spleen	Spleen
2	chr4:144436200-144443000	Weak transcription	Pancreas	Pancrea
3	chr4:144436200-144447800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:144436200-144449200	Weak transcription	Esophagus	oesophagus
5	chr4:144436200-144449200	Weak transcription	Gastric	stomach
6	chr4:144436200-144449400	Weak transcription	Lung	lung
7	chr4:144436200-144450000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:144436200-144457000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:144436400-144440800	Weak transcription	Colonic Mucosa	Colon
10	chr4:144436400-144452000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:144436800-144442200	Weak transcription	Thymus	Thymus
12	chr4:144436800-144449200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:144436800-144450200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:144437000-144440800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:144437000-144442600	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:144437000-144447800	Weak transcription	Right Ventricle	heart
17	chr4:144437200-144476400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:144437400-144477200	Strong transcription	Fetal Thymus	thymus
19	chr4:144437600-144442600	Weak transcription	Fetal Stomach	stomach
20	chr4:144437600-144452600	Weak transcription	Stomach Mucosa	stomach
21	chr4:144437600-144476000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:144437600-144480000	Weak transcription	Aorta	Aorta
23	chr4:144437800-144440800	Weak transcription	Fetal Brain Male	brain
24	chr4:144437800-144440800	Weak transcription	NHLF	lung
25	chr4:144437800-144441400	Weak transcription	Left Ventricle	heart
26	chr4:144437800-144441800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:144437800-144442600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:144437800-144442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:144437800-144444000	Strong transcription	HSMM	muscle
30	chr4:144437800-144446200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:144437800-144452200	Weak transcription	Psoas Muscle	Psoas
32	chr4:144437800-144452400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:144437800-144475600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr4:144437800-144476400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:144437800-144478400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:144438000-144440800	Weak transcription	Fetal Brain Female	brain
37	chr4:144438000-144441600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:144438000-144443600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:144438000-144443600	Weak transcription	Hela-S3	cervix
40	chr4:144438000-144447800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:144438000-144471800	Strong transcription	Osteobl	bone
42	chr4:144438000-144472400	Strong transcription	Fetal Intestine Large	intestine
43	chr4:144438000-144473600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:144438000-144476600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:144438000-144476800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:144438200-144440800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:144438200-144441200	Genic enhancers	Dnd41	blood
48	chr4:144438200-144441800	Weak transcription	Fetal Heart	heart
49	chr4:144438200-144442800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:144438200-144446200	Weak transcription	Placenta Amnion	Placenta Amnion

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