Variant report

Variant	rs2720295
Chromosome Location	chr12:50171714-50171715
allele	G/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50165363..50167502-chr12:50169856..50171775,2	MCF-7	breast:
2	chr12:50170142..50172988-chr12:50230634..50232481,2	MCF-7	breast:
3	chr12:50170539..50173499-chr12:50194309..50196084,2	MCF-7	breast:
4	chr12:50171566..50172481-chr12:50232494..50233075,6	MCF-7	breast:
5	chr12:50031633..50033303-chr12:50170292..50172237,2	MCF-7	breast:
6	chr12:50170723..50173215-chr12:50235786..50237664,2	MCF-7	breast:
7	chr12:50170376..50172143-chr12:50258394..50260601,2	K562	blood:
8	chr12:50170135..50173080-chr12:50221067..50223815,3	K562	blood:
9	chr12:50133815..50136756-chr12:50168920..50171771,5	K562	blood:
10	chr12:50167519..50174148-chr12:50230304..50237815,12	MCF-7	breast:
11	chr12:50170747..50172720-chr12:50179303..50181263,2	K562	blood:
12	chr12:50134836..50135546-chr12:50171623..50172147,2	MCF-7	breast:
13	chr12:50134293..50136830-chr12:50171612..50173479,2	K562	blood:
14	chr12:50170407..50172226-chr12:50230381..50232987,2	K562	blood:
15	chr12:50171688..50172586-chr12:50232580..50233542,2	K562	blood:
16	chr12:50038093..50038993-chr12:50171692..50172608,3	MCF-7	breast:
17	chr12:50171445..50173628-chr12:50220779..50222982,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction
ENSG00000186666	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2720296	0.82[CEU][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50158800-50181600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:50159000-50171800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:50159200-50172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:50159200-50177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:50159400-50171800	Weak transcription	Liver	Liver
6	chr12:50159400-50178600	Weak transcription	Right Ventricle	heart
7	chr12:50159800-50172000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:50160000-50172000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:50160600-50183400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:50169600-50172200	Enhancers	Fetal Thymus	thymus
11	chr12:50169800-50172000	Weak transcription	Pancreas	Pancrea
12	chr12:50170000-50172000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:50170000-50172200	Enhancers	GM12878-XiMat	blood
14	chr12:50170000-50172400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:50170000-50184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:50170200-50171800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:50170200-50171800	Weak transcription	Right Atrium	heart
18	chr12:50170200-50172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:50170200-50172000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:50170200-50172200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr12:50170200-50172400	Enhancers	NHEK	skin
22	chr12:50170200-50184400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:50170600-50171800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:50170600-50171800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:50170600-50171800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:50170600-50171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:50170600-50171800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:50170600-50172000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:50170600-50172000	Enhancers	HMEC	breast
30	chr12:50170600-50172000	Weak transcription	NH-A	brain
31	chr12:50170600-50172200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:50170800-50171800	Weak transcription	Placenta	Placenta
33	chr12:50170800-50171800	Weak transcription	Hela-S3	cervix
34	chr12:50170800-50176600	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:50170800-50191200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:50171000-50171800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:50171000-50172000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:50171400-50172200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:50171400-50172400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:50171400-50172400	Enhancers	HepG2	liver
41	chr12:50171600-50171800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:50171600-50171800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:50171600-50172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:50171600-50172000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:50171600-50172200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:50171600-50172400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr12:50171600-50172400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:50171600-50172400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:50171600-50172400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:50171600-50172400	Enhancers	Esophagus	oesophagus

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