Variant report

Variant	rs291225
Chromosome Location	chr11:86000593-86000594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85999579..86001748-chr11:86010935..86013289,2	K562	blood:
2	chr11:85754219..85755757-chr11:85998190..86001098,2	K562	blood:
3	chr11:85992844..85996245-chr11:85997438..86001010,4	K562	blood:
4	chr11:85953789..85956159-chr11:86000092..86002736,3	K562	blood:

Variant related genes	Relation type
ENSG00000149196	Chromatin interaction
ENSG00000254783	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10751138	0.83[AMR][1000 genomes]
rs10792840	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898450	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898454	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898455	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10898456	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234583	0.81[ASN][1000 genomes]
rs11234585	0.82[ASN][1000 genomes]
rs11234586	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234587	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11234591	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11234592	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234595	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1215001	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12225782	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12226796	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12282663	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12574118	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12577739	0.80[EUR][1000 genomes]
rs12800606	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1376947	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1391221	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs19039	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2600950	0.83[AMR][1000 genomes]
rs2847470	0.81[AMR][1000 genomes]
rs291216	0.81[AMR][1000 genomes]
rs291220	0.81[AMR][1000 genomes]
rs291221	0.81[AMR][1000 genomes]
rs291227	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291228	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291230	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291231	0.91[EUR][1000 genomes]
rs291232	0.91[EUR][1000 genomes]
rs291233	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291234	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291235	0.93[EUR][1000 genomes]
rs291236	0.89[EUR][1000 genomes]
rs291237	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291238	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs291242	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291247	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34095340	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34972740	0.82[ASN][1000 genomes]
rs3923738	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4547120	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944562	0.86[EUR][1000 genomes]
rs7106569	0.80[AMR][1000 genomes]
rs7937597	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv898055	chr11:85968623-86000757	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	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
rs291225	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
2	chr11:85975000-86002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:85984400-86002800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:85986000-86002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:85989600-86002800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:85989600-86002800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:85989600-86003000	Weak transcription	NH-A	brain
8	chr11:85990600-86002400	Weak transcription	HepG2	liver
9	chr11:85990800-86002600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:85991200-86002600	Weak transcription	Osteobl	bone
11	chr11:85991400-86002600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:85991400-86003200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:85991600-86002600	Weak transcription	NHDF-Ad	bronchial
14	chr11:85991600-86002800	Weak transcription	Placenta	Placenta
15	chr11:85992200-86000800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:85992200-86003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:85995600-86000800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:85995600-86001400	Weak transcription	Spleen	Spleen
19	chr11:85995600-86001800	Weak transcription	Liver	Liver
20	chr11:85995600-86002600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:85995600-86002600	Weak transcription	HMEC	breast
22	chr11:85995600-86002800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:85995600-86002800	Weak transcription	A549	lung
24	chr11:85995600-86003000	Weak transcription	NHLF	lung
25	chr11:85995600-86012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:85995600-86012800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:85995800-86000600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:85995800-86001800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:85995800-86002200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:85995800-86002400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:85995800-86002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:85995800-86002800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:85995800-86012600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:85995800-86013200	Weak transcription	Esophagus	oesophagus
35	chr11:85995800-86013200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:85996000-86000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:85996000-86002800	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:85996000-86002800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:85996000-86012800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:85996000-86013000	Weak transcription	Fetal Intestine Large	intestine
41	chr11:85996200-86002600	Weak transcription	Fetal Thymus	thymus
42	chr11:85997200-86002800	Weak transcription	Fetal Stomach	stomach
43	chr11:85997400-86001200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:85997600-86001000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:85998000-86000600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:85998000-86001200	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:85998600-86003000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:85999000-86002800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:85999200-86001200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:86000000-86001200	Enhancers	Hela-S3	cervix

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