Variant report

Variant	rs58028140
Chromosome Location	chr12:45751681-45751682
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45626303..45628106-chr12:45750201..45751919,2	MCF-7	breast:
2	chr12:45612938..45614519-chr12:45750771..45753564,2	MCF-7	breast:
3	chr12:45608849..45610390-chr12:45749416..45752172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12578638	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17095779	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17095781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095835	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17095858	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095860	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095862	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095884	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17095890	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17095914	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17121366	1.00[ASN][1000 genomes]
rs3803177	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41338444	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4512918	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57056104	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57160874	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57455310	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58152224	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58213849	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58282976	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58940403	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59166276	0.88[AMR][1000 genomes]
rs60688397	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs60794282	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61276164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61351713	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61484865	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74081808	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74081818	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74081821	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9788104	1.00[AFR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:45741000-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
13	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:45745000-45751800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:45745000-45753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:45745000-45754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
18	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
19	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
21	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:45745000-45779800	Weak transcription	Gastric	stomach
23	chr12:45745200-45751800	Weak transcription	Fetal Brain Female	brain
24	chr12:45745200-45751800	Weak transcription	NHLF	lung
25	chr12:45745200-45755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:45745200-45755800	Weak transcription	HSMM	muscle
27	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:45745400-45754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
31	chr12:45745600-45751800	Weak transcription	Right Ventricle	heart
32	chr12:45745600-45755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
35	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:45747400-45754200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:45747800-45752800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:45748000-45754000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:45748000-45754400	Strong transcription	Primary T cells from cord blood	blood
40	chr12:45748200-45752200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:45748200-45753200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:45748200-45753600	Strong transcription	Primary B cells from cord blood	blood
43	chr12:45748200-45754600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:45748400-45754800	Strong transcription	Fetal Thymus	thymus
45	chr12:45749000-45752200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:45749000-45754400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:45749200-45752200	Strong transcription	Thymus	Thymus
48	chr12:45749200-45752400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:45749200-45754400	Strong transcription	Dnd41	blood
50	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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