Variant report

Variant	rs11127000
Chromosome Location	chr2:86055154-86055155
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86054177..86056826-chr2:86305154..86307872,2	MCF-7	breast:
2	chr2:86054589..86055163-chr2:86305452..86306492,4	K562	blood:
3	chr2:86054287..86055622-chr2:86306024..86306629,3	MCF-7	breast:
4	chr2:86053537..86056634-chr2:86057076..86060323,3	K562	blood:
5	chr2:86054004..86055894-chr2:86304722..86306644,12	MCF-7	breast:
6	chr2:86054263..86055159-chr2:86306734..86307688,8	K562	blood:
7	chr2:86054291..86055159-chr2:86262823..86263723,2	MCF-7	breast:
8	chr2:86054378..86057135-chr2:86114999..86116544,2	MCF-7	breast:
9	chr2:86054186..86055161-chr2:86306747..86308111,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11676487	0.94[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs1518986	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1518987	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs2049015	0.80[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap]
rs6756890	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7582218	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7609014	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7609098	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7609429	0.87[CEU][hapmap];0.94[CHB][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9677383	0.92[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9678088	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11127000	ST3GAL5	Cis_1M	lymphoblastoid	RTeQTL
rs11127000	RNF181	cis	cerebellum	SCAN
rs11127000	CD8B	cis	parietal	SCAN
rs11127000	VAMP5	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86039800-86074800	Weak transcription	Aorta	Aorta
2	chr2:86054200-86055400	Enhancers	Fetal Muscle Leg	muscle
3	chr2:86054200-86055600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:86054200-86055800	Enhancers	Fetal Thymus	thymus
5	chr2:86054400-86055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:86054400-86055200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:86054400-86055200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:86054400-86055200	Enhancers	Liver	Liver
9	chr2:86054400-86055200	Enhancers	Fetal Lung	lung
10	chr2:86054400-86055200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:86054400-86055200	Enhancers	NHLF	lung
12	chr2:86054400-86055400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:86054400-86055400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:86054400-86055600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:86054400-86055600	Enhancers	Pancreas	Pancrea
16	chr2:86054400-86055800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:86054400-86055800	Enhancers	Spleen	Spleen
18	chr2:86054400-86057800	Enhancers	Dnd41	blood
19	chr2:86054600-86055200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:86054600-86055200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:86054600-86055200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:86054600-86055200	Bivalent Enhancer	Fetal Stomach	stomach
23	chr2:86054600-86055200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr2:86054600-86055200	Active TSS	Osteobl	bone
25	chr2:86054600-86055400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:86054600-86055400	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:86054800-86055200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:86054800-86055200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:86054800-86055200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr2:86054800-86055200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:86054800-86055200	Enhancers	Primary T cells from cord blood	blood
32	chr2:86054800-86055200	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:86054800-86055200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:86054800-86055200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:86054800-86055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:86054800-86055200	Enhancers	Brain Germinal Matrix	brain
37	chr2:86054800-86055200	Enhancers	Colonic Mucosa	Colon
38	chr2:86054800-86055200	Enhancers	Fetal Heart	heart
39	chr2:86054800-86055200	Enhancers	Fetal Intestine Large	intestine
40	chr2:86054800-86055200	Enhancers	Stomach Mucosa	stomach
41	chr2:86054800-86055200	Flanking Active TSS	A549	lung
42	chr2:86054800-86055200	Flanking Active TSS	GM12878-XiMat	blood
43	chr2:86054800-86055200	Flanking Active TSS	K562	blood
44	chr2:86054800-86055400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:86054800-86055400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:86054800-86055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:86054800-86055400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:86054800-86055400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:86054800-86055400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:86054800-86055400	Enhancers	Thymus	Thymus

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