Variant report

Variant	rs73024403
Chromosome Location	chr1:153492137-153492138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153491196..153497339-chr1:153538209..153542553,6	MCF-7	breast:
2	chr1:153492067..153494690-chr1:153506772..153509509,2	MCF-7	breast:
3	chr1:153489710..153492199-chr1:153643091..153644998,2	MCF-7	breast:
4	chr1:153488431..153490031-chr1:153491470..153493737,3	MCF-7	breast:
5	chr1:153490604..153493387-chr1:153620859..153622534,2	MCF-7	breast:
6	chr1:153490190..153492255-chr1:153599612..153601121,2	MCF-7	breast:
7	chr1:153490524..153493456-chr1:153634525..153637062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160678	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000197956	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16835344	1.00[AMR][1000 genomes]
rs16835349	1.00[AMR][1000 genomes]
rs16835352	1.00[AMR][1000 genomes]
rs2986203	1.00[AMR][1000 genomes]
rs2986204	1.00[AMR][1000 genomes]
rs2986205	1.00[AMR][1000 genomes]
rs2986207	1.00[AMR][1000 genomes]
rs3006432	1.00[AMR][1000 genomes]
rs3014830	1.00[AMR][1000 genomes]
rs3014844	1.00[AMR][1000 genomes]
rs3014852	1.00[AMR][1000 genomes]
rs3118476	1.00[AMR][1000 genomes]
rs58408424	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60387319	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024414	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024420	0.83[AFR][1000 genomes]
rs73024423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9003	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153481200-153503600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:153483600-153493200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:153483800-153497800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:153488400-153492400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:153488600-153498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:153488800-153492800	Weak transcription	K562	blood
7	chr1:153488800-153497800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:153489000-153492400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153489000-153492800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:153489000-153492800	Weak transcription	Colonic Mucosa	Colon
11	chr1:153489000-153493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:153489000-153493200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:153489000-153497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:153489000-153497800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:153489000-153498000	Weak transcription	Esophagus	oesophagus
16	chr1:153489000-153498000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:153489000-153506000	Weak transcription	Gastric	stomach
18	chr1:153489200-153492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:153489400-153492800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:153489400-153492800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:153489400-153492800	Weak transcription	Stomach Mucosa	stomach
22	chr1:153489400-153492800	Weak transcription	HMEC	breast
23	chr1:153489400-153493200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:153489400-153493200	Weak transcription	Small Intestine	intestine
25	chr1:153489400-153493400	Weak transcription	NHEK	skin
26	chr1:153489400-153498200	Weak transcription	Hela-S3	cervix
27	chr1:153489600-153492800	Weak transcription	Placenta	Placenta
28	chr1:153491200-153493200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:153491400-153492200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:153491400-153492400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:153491400-153493000	Weak transcription	HUVEC	blood vessel
32	chr1:153491400-153493400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:153491400-153495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:153491800-153498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:153492000-153492200	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:153492000-153492200	Enhancers	Fetal Intestine Small	intestine
37	chr1:153492000-153493200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:153492000-153494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:153492000-153494200	Enhancers	Fetal Intestine Large	intestine
40	chr1:153492000-153499200	Weak transcription	Fetal Thymus	thymus

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