Variant report

Variant	rs291242
Chromosome Location	chr11:86014820-86014821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85954509..85956884-chr11:86013356..86015049,2	K562	blood:
2	chr11:85374267..85376584-chr11:86013241..86015955,2	MCF-7	breast:
3	chr11:85978505..85980119-chr11:86012077..86014955,2	K562	blood:
4	chr11:85837959..85840215-chr11:86014707..86016987,2	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10751138	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10792840	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898450	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898454	0.84[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898455	0.84[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10898456	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234582	0.85[CHB][hapmap]
rs11234583	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs11234585	0.81[ASN][1000 genomes]
rs11234586	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234587	0.92[ASN][1000 genomes]
rs11234591	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11234592	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234595	0.86[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11234621	0.84[ASN][1000 genomes]
rs11825046	0.84[ASN][1000 genomes]
rs1215001	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225782	0.83[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12226796	0.92[ASN][1000 genomes]
rs12282663	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12574118	0.92[ASN][1000 genomes]
rs12577739	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs12800606	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1376947	0.95[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1391221	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs19039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2600950	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2646732	0.86[ASN][1000 genomes]
rs2847470	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs291203	0.86[ASN][1000 genomes]
rs291215	0.89[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs291216	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs291220	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs291221	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs291225	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291228	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291230	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291231	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs291232	0.90[EUR][1000 genomes]
rs291233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291235	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs291236	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs291237	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291238	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291247	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34095340	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34972740	0.81[ASN][1000 genomes]
rs3923738	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4547120	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944562	0.86[EUR][1000 genomes]
rs7106569	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs7117195	0.83[ASN][1000 genomes]
rs7480354	0.84[ASN][1000 genomes]
rs7937597	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7948056	0.84[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	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs291242	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86012600-86015200	Active TSS	K562	blood
2	chr11:86012800-86015000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:86012800-86015000	Active TSS	GM12878-XiMat	blood
4	chr11:86014000-86016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:86014000-86026000	Weak transcription	Placenta	Placenta
6	chr11:86014000-86030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:86014000-86030000	Weak transcription	Lung	lung
8	chr11:86014200-86015200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:86014200-86015200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:86014200-86015400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:86014200-86015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:86014200-86016000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:86014200-86024600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:86014200-86024600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:86014200-86024800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:86014200-86028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:86014200-86030000	Weak transcription	Left Ventricle	heart
18	chr11:86014200-86031600	Weak transcription	Ovary	ovary
19	chr11:86014200-86052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:86014200-86055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:86014200-86057400	Weak transcription	Aorta	Aorta
22	chr11:86014400-86015000	Enhancers	Primary T cells from cord blood	blood
23	chr11:86014400-86015200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:86014400-86015200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:86014400-86015200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:86014400-86015200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:86014400-86015200	Enhancers	Fetal Heart	heart
28	chr11:86014400-86015200	Enhancers	Rectal Smooth Muscle	rectum
29	chr11:86014400-86015400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:86014400-86015400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:86014400-86015400	Enhancers	Adipose Nuclei	Adipose
32	chr11:86014400-86024000	Weak transcription	Fetal Thymus	thymus
33	chr11:86014400-86024400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:86014400-86024600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:86014400-86027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:86014400-86030000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:86014400-86034400	Weak transcription	HSMM	muscle
38	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
39	chr11:86014600-86015000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:86014600-86015000	Enhancers	Colon Smooth Muscle	Colon
41	chr11:86014600-86015000	Enhancers	NHEK	skin
42	chr11:86014600-86015200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:86014600-86015200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:86014600-86015200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:86014600-86015200	Enhancers	Osteobl	bone
46	chr11:86014600-86015400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:86014600-86015400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:86014600-86015400	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:86014600-86015800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86014600-86015800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links