Variant report

Variant	rs291227
Chromosome Location	chr11:86003716-86003717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:86003654-86003750	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:86003694-86003733	ProgFib	skin:	n/a	n/a
3	CTCF	chr11:86003713-86003849	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr11:86002647-86003740	SK-N-SH	brain:	n/a	chr11:86003017-86003035 chr11:86003012-86003033 chr11:86003019-86003032 chr11:86003023-86003032

No.	Distal block	Cell Line	Cell type
1	chr11:85993708..85996490-chr11:86003264..86007905,4	K562	blood:
2	chr11:86001868..86005047-chr11:86005098..86008545,3	K562	blood:
3	chr11:85997706..86000207-chr11:86001867..86004535,3	MCF-7	breast:
4	chr11:85971469..85973576-chr11:86002289..86004505,2	MCF-7	breast:
5	chr11:85990195..85992374-chr11:86002425..86005252,2	K562	blood:
6	chr11:85989760..85992310-chr11:86001977..86004661,2	MCF-7	breast:

Variant related genes	Relation type
SETP17	TF binding region
ENSG00000254783	Chromatin interaction
ENSG00000255222	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10751138	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10792840	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898450	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898454	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898455	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898456	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234583	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234585	0.86[ASN][1000 genomes]
rs11234586	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234587	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234591	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234592	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234595	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11234621	0.80[ASN][1000 genomes]
rs11825046	0.80[ASN][1000 genomes]
rs1215001	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225782	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12226796	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12282663	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12574118	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577739	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12800606	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1376947	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1391221	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs19039	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2600950	0.81[AMR][1000 genomes]
rs2646732	0.82[ASN][1000 genomes]
rs2847470	0.83[AMR][1000 genomes]
rs291203	0.82[ASN][1000 genomes]
rs291215	0.81[ASN][1000 genomes]
rs291216	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs291220	0.83[AMR][1000 genomes]
rs291221	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs291225	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs291228	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291230	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291231	0.95[EUR][1000 genomes]
rs291232	0.95[EUR][1000 genomes]
rs291233	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291234	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291235	0.97[EUR][1000 genomes]
rs291236	0.93[EUR][1000 genomes]
rs291237	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291247	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs291251	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34095340	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34972740	0.86[ASN][1000 genomes]
rs3923738	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4547120	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944562	0.90[EUR][1000 genomes]
rs7106569	0.80[ASN][1000 genomes]
rs7480354	0.80[ASN][1000 genomes]
rs7937597	0.80[ASN][1000 genomes]
rs7948056	0.80[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
rs291227	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
2	chr11:85995600-86012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:85995600-86012800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:85995800-86012600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:85995800-86013200	Weak transcription	Esophagus	oesophagus
6	chr11:85995800-86013200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:85996000-86012800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:85996000-86013000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:86000200-86003800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:86000400-86005400	Enhancers	GM12878-XiMat	blood
11	chr11:86001000-86004400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:86001000-86004800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:86001200-86005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:86002400-86005400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:86002600-86004600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:86002600-86005400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:86002800-86004600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:86002800-86004600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr11:86003000-86004200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:86003000-86012600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:86003200-86013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86003400-86004600	Enhancers	Primary T cells fromperipheralblood	blood

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