Variant report

Variant	rs2253054
Chromosome Location	chr12:106739745-106739746
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106739203..106740891-chr12:106742866..106745239,2	K562	blood:
2	chr12:106675499..106676420-chr12:106739472..106740272,2	MCF-7	breast:
3	chr12:106621785..106624266-chr12:106738678..106741420,2	MCF-7	breast:
4	chr12:106620393..106621309-chr12:106739388..106739910,3	MCF-7	breast:
5	chr12:106695974..106697798-chr12:106738328..106740456,2	MCF-7	breast:
6	chr12:106620298..106621234-chr12:106739383..106740277,4	MCF-7	breast:
7	chr12:106620641..106621450-chr12:106739290..106739960,4	K562	blood:
8	chr12:106739391..106742209-chr12:106742866..106744499,2	K562	blood:
9	chr12:106737313..106740212-chr12:106750279..106752903,4	MCF-7	breast:
10	chr12:106734254..106736719-chr12:106737374..106739758,2	MCF-7	breast:
11	chr12:106641249..106642821-chr12:106739631..106741226,2	MCF-7	breast:
12	chr12:106739208..106741213-chr12:106743034..106745596,2	MCF-7	breast:
13	chr12:106717961..106720483-chr12:106738715..106741683,2	K562	blood:
14	chr12:106739700..106741881-chr12:106744075..106745674,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000013503	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000136026	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10861600	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10861607	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112983	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1882413	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243506	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245062	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246353	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2246627	0.82[AMR][1000 genomes]
rs2249162	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2249773	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2250262	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2250653	0.82[AMR][1000 genomes]
rs2252685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264761	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2288266	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs34619628	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106705200-106743400	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr12:106705400-106743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:106708000-106740600	Strong transcription	Primary T cells from cord blood	blood
4	chr12:106708000-106741000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr12:106713400-106741600	Weak transcription	Small Intestine	intestine
6	chr12:106723600-106751000	Weak transcription	Fetal Kidney	kidney
7	chr12:106724000-106742600	Strong transcription	Primary B cells from cord blood	blood
8	chr12:106724000-106751000	Weak transcription	Fetal Brain Female	brain
9	chr12:106731200-106743600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:106733200-106741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:106733200-106742600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:106734600-106741200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:106735000-106740400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:106735200-106740400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:106735800-106751000	Weak transcription	Colonic Mucosa	Colon
16	chr12:106736200-106751400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:106736600-106739800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:106736600-106742800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:106736600-106751000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:106736800-106740400	Weak transcription	Placenta	Placenta
21	chr12:106736800-106742000	Weak transcription	Ovary	ovary
22	chr12:106736800-106742600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:106736800-106745000	Weak transcription	Psoas Muscle	Psoas
24	chr12:106736800-106746600	Weak transcription	Pancreas	Pancrea
25	chr12:106736800-106751000	Weak transcription	Right Ventricle	heart
26	chr12:106737000-106742000	Weak transcription	HUVEC	blood vessel
27	chr12:106737000-106743800	Weak transcription	Aorta	Aorta
28	chr12:106737000-106751000	Weak transcription	Fetal Thymus	thymus
29	chr12:106737200-106739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:106737200-106740000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:106737200-106742200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:106737200-106743000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:106737200-106743400	Weak transcription	NH-A	brain
34	chr12:106737200-106750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:106737200-106751000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:106737200-106751000	Weak transcription	Fetal Lung	lung
37	chr12:106737400-106739800	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:106737400-106740000	Weak transcription	Liver	Liver
39	chr12:106737400-106741200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:106737400-106741400	Weak transcription	Osteobl	bone
41	chr12:106737400-106742200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:106737400-106742200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:106737400-106742400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:106737400-106742400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:106737400-106742600	Weak transcription	NHDF-Ad	bronchial
46	chr12:106737400-106750800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:106737400-106750800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:106737400-106751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:106737600-106739800	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:106737600-106743600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links