Variant report

Variant	rs73118120
Chromosome Location	chr1:223303171-223303172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223254421..223255395-chr1:223302514..223303380,2	MCF-7	breast:
2	chr1:223301561..223303590-chr1:223305260..223306850,2	K562	blood:
3	chr1:223295784..223298223-chr1:223301441..223304262,2	K562	blood:
4	chr1:223301112..223303740-chr1:223305337..223308068,3	MCF-7	breast:
5	chr1:223302425..223303476-chr1:223871639..223872580,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019278	1.00[AMR][1000 genomes]
rs11488546	1.00[AMR][1000 genomes]
rs1341287	1.00[AMR][1000 genomes]
rs1713218	1.00[AMR][1000 genomes]
rs2253649	1.00[AMR][1000 genomes]
rs2487832	1.00[AMR][1000 genomes]
rs28584917	1.00[AMR][1000 genomes]
rs5744162	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61737415	1.00[AMR][1000 genomes]
rs73113906	1.00[AMR][1000 genomes]
rs73113914	1.00[AMR][1000 genomes]
rs73113918	1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	1.00[AMR][1000 genomes]
rs73115872	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AMR][1000 genomes]
rs73118104	1.00[AMR][1000 genomes]
rs73118106	1.00[AMR][1000 genomes]
rs73118108	1.00[AMR][1000 genomes]
rs73118111	1.00[AMR][1000 genomes]
rs73118118	1.00[AMR][1000 genomes]
rs73118121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	1.00[AMR][1000 genomes]
rs73120252	1.00[AMR][1000 genomes]
rs73120270	1.00[AMR][1000 genomes]
rs73120271	1.00[AMR][1000 genomes]
rs73120274	1.00[AMR][1000 genomes]
rs73120283	1.00[AMR][1000 genomes]
rs73120288	1.00[AMR][1000 genomes]
rs73122203	1.00[AMR][1000 genomes]
rs73122204	1.00[AMR][1000 genomes]
rs73122205	1.00[AMR][1000 genomes]
rs73122207	1.00[AMR][1000 genomes]
rs73122216	1.00[AMR][1000 genomes]
rs73122222	1.00[AMR][1000 genomes]
rs73122236	1.00[AMR][1000 genomes]
rs73122239	1.00[AMR][1000 genomes]
rs825119	1.00[AMR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:223297200-223307000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:223297200-223307000	Weak transcription	Aorta	Aorta
4	chr1:223297600-223306800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:223301000-223303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:223302200-223303200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr1:223302200-223303200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:223302400-223303200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:223302400-223303200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:223302400-223303200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:223302400-223303200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:223302400-223303200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:223302400-223303200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:223302400-223303200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:223302400-223303200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:223302400-223303200	Enhancers	Fetal Heart	heart
17	chr1:223302400-223303200	Enhancers	Pancreas	Pancrea
18	chr1:223302400-223303200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:223302400-223303200	Genic enhancers	Spleen	Spleen
20	chr1:223302400-223304000	Bivalent Enhancer	Fetal Thymus	thymus
21	chr1:223302400-223304400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:223302600-223303200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:223302600-223303200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr1:223302600-223303200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:223302600-223303200	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:223302600-223303200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:223302600-223303200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:223302600-223303200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:223302600-223303200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:223302600-223303200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:223302600-223303200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr1:223302600-223303200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr1:223302600-223303200	Enhancers	Gastric	stomach
34	chr1:223302600-223303200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:223302600-223303200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:223302600-223303400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:223302600-223306400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:223302800-223303200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr1:223302800-223303200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:223302800-223303200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:223302800-223303200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:223302800-223303200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:223302800-223303200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:223302800-223303200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:223302800-223303200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:223302800-223303200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:223302800-223303200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:223302800-223303200	Flanking Active TSS	Liver	Liver
49	chr1:223302800-223303200	Active TSS	Brain Angular Gyrus	brain
50	chr1:223302800-223303200	Flanking Active TSS	Brain Anterior Caudate	brain

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