Variant report

Variant	rs60679059
Chromosome Location	chr12:46615208-46615209
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46613955..46615802-chr12:46659789..46661302,2	MCF-7	breast:
2	chr12:46611489..46616057-chr12:46626284..46631509,6	MCF-7	breast:
3	chr12:46597858..46599601-chr12:46614567..46617452,2	MCF-7	breast:
4	chr12:46611743..46615456-chr12:46661323..46664567,5	MCF-7	breast:
5	chr12:46614875..46617379-chr12:46657334..46659175,2	MCF-7	breast:
6	chr12:46614847..46617815-chr12:46786791..46788512,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10219550	0.92[EUR][1000 genomes]
rs17096799	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2125644	0.92[EUR][1000 genomes]
rs7971883	0.92[EUR][1000 genomes]
rs7975060	0.89[EUR][1000 genomes]
rs957128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs963325	0.92[EUR][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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46596000-46618200	Weak transcription	Aorta	Aorta
3	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
4	chr12:46604000-46623400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:46604000-46633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:46604000-46637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:46604400-46618600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:46608400-46618200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:46609200-46618600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:46610200-46619000	Weak transcription	Psoas Muscle	Psoas
11	chr12:46610400-46624000	Weak transcription	Pancreas	Pancrea
12	chr12:46610600-46640000	Weak transcription	Esophagus	oesophagus
13	chr12:46611400-46615800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:46611600-46616800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:46612000-46615400	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:46612000-46617200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:46612200-46616000	Enhancers	Placenta	Placenta
18	chr12:46612200-46618200	Genic enhancers	NHEK	skin
19	chr12:46612400-46615400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:46612400-46618400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:46612600-46618400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:46613000-46616800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:46613200-46615400	Enhancers	HSMM	muscle
24	chr12:46613200-46615800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:46613200-46616000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:46613200-46616200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:46613200-46616400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:46613200-46616400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:46613200-46617200	Genic enhancers	Hela-S3	cervix
30	chr12:46613200-46617400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:46613200-46618800	Strong transcription	HepG2	liver
32	chr12:46613200-46619200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:46613200-46619600	Enhancers	Colon Smooth Muscle	Colon
34	chr12:46613200-46619800	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr12:46613400-46615600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:46613400-46615800	Enhancers	Brain Hippocampus Middle	brain
37	chr12:46613400-46615800	Enhancers	Brain Substantia Nigra	brain
38	chr12:46613400-46615800	Flanking Active TSS	HUVEC	blood vessel
39	chr12:46613400-46616000	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:46613400-46616400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:46613400-46616400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:46613400-46616400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:46613400-46616800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:46613400-46616800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:46613400-46618000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:46613400-46619600	Genic enhancers	Primary B cells from cord blood	blood
47	chr12:46613400-46621400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:46613600-46615400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:46613600-46615800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:46613600-46616200	Genic enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links