Variant report

Variant	rs60695301
Chromosome Location	chr12:122602942-122602943
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	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
2	chr12:122582916..122584991-chr12:122600194..122603011,2	MCF-7	breast:
3	chr12:122527628..122529704-chr12:122601189..122603707,2	MCF-7	breast:
4	chr12:122601261..122606063-chr12:122607168..122609213,4	K562	blood:
5	chr12:122601548..122603416-chr12:122604759..122607600,2	K562	blood:
6	chr12:122522242..122525076-chr12:122602763..122605523,2	MCF-7	breast:
7	chr12:122594427..122596064-chr12:122601352..122602950,2	K562	blood:
8	chr12:122597480..122599140-chr12:122601411..122603902,2	K562	blood:
9	chr12:122496130..122500092-chr12:122599945..122602978,3	K562	blood:
10	chr12:122500849..122505049-chr12:122602571..122607849,6	K562	blood:
11	chr12:122492460..122495753-chr12:122599733..122603330,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55769514	0.87[AFR][1000 genomes]
rs55922912	0.87[AFR][1000 genomes]
rs58019231	0.87[AFR][1000 genomes]
rs59061515	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60746592	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73417665	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73417676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
3	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122593400-122607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:122593600-122606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:122593600-122606200	Weak transcription	HUVEC	blood vessel
9	chr12:122593600-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:122593600-122607600	Weak transcription	NHLF	lung
11	chr12:122594600-122607600	Weak transcription	Left Ventricle	heart
12	chr12:122596200-122605400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:122596200-122606600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:122596200-122607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:122596800-122604400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:122596800-122606200	Weak transcription	Osteobl	bone
17	chr12:122596800-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:122596800-122607600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:122597600-122607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:122597800-122603000	Strong transcription	Fetal Stomach	stomach
21	chr12:122598200-122607600	Weak transcription	Placenta	Placenta
22	chr12:122598800-122603000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:122598800-122603000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:122598800-122603200	Strong transcription	Primary T cells from cord blood	blood
25	chr12:122599000-122603000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:122599000-122607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
28	chr12:122599200-122604200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:122599200-122606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:122599200-122606400	Weak transcription	Right Atrium	heart
31	chr12:122599200-122607600	Weak transcription	HepG2	liver
32	chr12:122599200-122607600	Weak transcription	NHEK	skin
33	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:122599400-122606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:122600000-122603000	Enhancers	Stomach Mucosa	stomach
36	chr12:122600200-122603000	Enhancers	Liver	Liver
37	chr12:122600200-122603200	Enhancers	Pancreas	Pancrea
38	chr12:122600400-122603000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:122600400-122603000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:122600600-122603200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:122600600-122603200	Enhancers	Gastric	stomach
42	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
43	chr12:122600800-122603200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:122600800-122603200	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:122601000-122603000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:122601000-122603000	Enhancers	Brain Substantia Nigra	brain
47	chr12:122601000-122603000	Enhancers	HMEC	breast
48	chr12:122601000-122603000	Genic enhancers	K562	blood
49	chr12:122601000-122603200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:122601000-122603200	Enhancers	HSMMtube	muscle

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