Variant report

Variant	rs278126
Chromosome Location	chr12:120135717-120135718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120105686..120108054-chr12:120134136..120136155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248636	Chromatin interaction
ENSG00000111725	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10849688	1.00[ASN][1000 genomes]
rs10849690	1.00[ASN][1000 genomes]
rs11064873	0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs175878	0.83[CEU][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978107	0.80[MEX][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs202983	0.87[ASW][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.90[YRI][hapmap];0.83[EUR][1000 genomes]
rs2285595	0.86[YRI][hapmap]
rs278102	0.87[ASW][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs278104	0.83[EUR][1000 genomes]
rs278114	0.82[CEU][hapmap]
rs278123	0.83[CEU][hapmap];0.80[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278143	0.83[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs278144	0.87[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs278145	0.83[CEU][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs278147	0.83[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs278148	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs278149	0.83[CEU][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs278151	0.83[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs278152	0.83[CEU][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs278154	1.00[ASN][1000 genomes]
rs278155	0.81[ASW][hapmap];0.83[CEU][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2936830	0.81[ASW][hapmap];0.90[YRI][hapmap]
rs2996030	0.84[YRI][hapmap]
rs3213625	0.81[YRI][hapmap]
rs3213626	0.81[YRI][hapmap]
rs3930004	1.00[ASN][1000 genomes]
rs403734	0.88[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs4213	0.83[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4766946	0.86[YRI][hapmap]
rs6490266	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6490267	0.87[MEX][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs7131914	0.85[YRI][hapmap]
rs7299963	0.82[YRI][hapmap]
rs7304996	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7310266	0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs7960723	1.00[ASN][1000 genomes]
rs7963248	1.00[ASN][1000 genomes]
rs7967558	1.00[ASN][1000 genomes]
rs7972600	1.00[ASN][1000 genomes]
rs7979627	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs804667	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs278126	PXN	cis	cerebellum	SCAN
rs278126	FBXW8	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120117000-120145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:120119200-120141200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:120119600-120147000	Weak transcription	Brain Substantia Nigra	brain
6	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
7	chr12:120120200-120148000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:120120400-120137200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:120120400-120145600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:120120800-120137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:120121000-120151800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:120123400-120136200	Strong transcription	Thymus	Thymus
15	chr12:120123400-120182000	Strong transcription	Dnd41	blood
16	chr12:120126000-120154000	Weak transcription	Right Ventricle	heart
17	chr12:120126400-120150000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:120126600-120158000	Weak transcription	Colonic Mucosa	Colon
19	chr12:120127600-120143200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:120129400-120139400	Weak transcription	Lung	lung
21	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:120131000-120137600	Weak transcription	K562	blood
23	chr12:120131200-120154200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:120131200-120161600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:120131400-120137000	Weak transcription	Fetal Kidney	kidney
26	chr12:120131600-120136200	Strong transcription	A549	lung
27	chr12:120131600-120137400	Weak transcription	NH-A	brain
28	chr12:120131600-120142000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:120131600-120154400	Weak transcription	Small Intestine	intestine
30	chr12:120131800-120141800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:120131800-120142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:120132000-120145400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:120132200-120137200	Weak transcription	HUVEC	blood vessel
34	chr12:120132200-120151200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:120132200-120152400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:120132400-120146000	Weak transcription	Brain Germinal Matrix	brain
37	chr12:120132400-120151400	Weak transcription	Pancreas	Pancrea
38	chr12:120132400-120153400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:120132800-120136000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:120132800-120136200	Strong transcription	Fetal Stomach	stomach
41	chr12:120132800-120162000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:120133000-120136200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:120133000-120137200	Weak transcription	Fetal Intestine Large	intestine
44	chr12:120133000-120147800	Weak transcription	Stomach Mucosa	stomach
45	chr12:120133400-120136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:120133600-120142600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:120133800-120136200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:120133800-120138000	Strong transcription	Fetal Thymus	thymus
49	chr12:120133800-120142000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:120133800-120142000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links