Variant report

Variant	rs548093
Chromosome Location	chr12:121152294-121152295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121084474..121085355-chr12:121151432..121152310,2	MCF-7	breast:
2	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
3	chr12:121148398..121150885-chr12:121151004..121154800,4	MCF-7	breast:
4	chr12:121151558..121153443-chr12:121160928..121163620,3	K562	blood:
5	chr12:121020875..121021804-chr12:121150905..121152345,4	K562	blood:
6	chr12:121063435..121065445-chr12:121151426..121154116,2	K562	blood:
7	chr12:121021265..121021846-chr12:121151493..121152375,2	MCF-7	breast:
8	chr12:121133148..121135854-chr12:121150627..121153434,2	K562	blood:
9	chr12:121150019..121152540-chr12:121155264..121157262,3	MCF-7	breast:
10	chr12:121151830..121154450-chr12:121158751..121160355,2	MCF-7	breast:
11	chr12:121141631..121144439-chr12:121150820..121152579,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000256569	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10431385	0.80[EUR][1000 genomes]
rs11065223	0.91[EUR][1000 genomes]
rs17847	0.90[EUR][1000 genomes]
rs1814851	0.89[EUR][1000 genomes]
rs2005455	0.80[EUR][1000 genomes]
rs2239760	0.85[EUR][1000 genomes]
rs2948149	0.82[EUR][1000 genomes]
rs3021338	0.86[EUR][1000 genomes]
rs34734847	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35360964	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3752531	0.87[EUR][1000 genomes]
rs3829290	0.89[EUR][1000 genomes]
rs3915	0.87[EUR][1000 genomes]
rs555404	0.89[EUR][1000 genomes]
rs556001	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55730005	0.87[EUR][1000 genomes]
rs56273049	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs575437	0.89[EUR][1000 genomes]
rs658521	0.91[EUR][1000 genomes]
rs695948	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs695949	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs695952	0.89[EUR][1000 genomes]
rs696337	0.92[EUR][1000 genomes]
rs696339	0.87[EUR][1000 genomes]
rs696340	0.90[EUR][1000 genomes]
rs697854	0.87[EUR][1000 genomes]
rs708783	0.89[EUR][1000 genomes]
rs7308648	0.88[EUR][1000 genomes]
rs7312316	0.84[EUR][1000 genomes]
rs7976497	0.90[EUR][1000 genomes]
rs998727	0.84[EUR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr12:121149000-121153600	Weak transcription	Aorta	Aorta
2	chr12:121149600-121152400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:121149600-121152400	Weak transcription	HSMMtube	muscle
4	chr12:121149600-121154200	Weak transcription	Colonic Mucosa	Colon
5	chr12:121149600-121157200	Weak transcription	Psoas Muscle	Psoas
6	chr12:121149600-121159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:121149800-121152600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:121149800-121153600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:121149800-121154000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:121149800-121154000	Weak transcription	Stomach Mucosa	stomach
11	chr12:121149800-121157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:121150000-121152400	Weak transcription	Pancreas	Pancrea
14	chr12:121150000-121152400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:121150000-121153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:121150000-121154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:121150000-121154200	Weak transcription	Esophagus	oesophagus
18	chr12:121150000-121154400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:121150000-121154800	Weak transcription	Small Intestine	intestine
20	chr12:121150000-121155200	Strong transcription	HSMM	muscle
21	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:121150200-121153000	Weak transcription	Brain Substantia Nigra	brain
23	chr12:121150200-121157400	Strong transcription	Osteobl	bone
24	chr12:121150400-121152400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:121150400-121153800	Weak transcription	Fetal Brain Female	brain
26	chr12:121150400-121154200	Weak transcription	HepG2	liver
27	chr12:121150400-121157800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:121150400-121161600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:121150600-121158400	Strong transcription	NH-A	brain
31	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:121151000-121153600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr12:121151000-121156200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:121151000-121158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:121151000-121158200	Strong transcription	HMEC	breast
37	chr12:121151000-121161200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:121151200-121152600	Strong transcription	Brain Hippocampus Middle	brain
43	chr12:121151200-121154200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:121151200-121154800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:121151200-121155400	Strong transcription	Fetal Intestine Small	intestine
46	chr12:121151200-121155800	Strong transcription	Fetal Intestine Large	intestine
47	chr12:121151200-121156000	Strong transcription	Liver	Liver
48	chr12:121151200-121156200	Strong transcription	Fetal Kidney	kidney
49	chr12:121151200-121156800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:121151200-121156800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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