Variant report

Variant	rs291244
Chromosome Location	chr11:86015281-86015282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85982331..85984866-chr11:86014885..86016908,2	MCF-7	breast:
2	chr11:85374267..85376584-chr11:86013241..86015955,2	MCF-7	breast:
3	chr11:85663607..85666587-chr11:86015226..86016933,2	K562	blood:
4	chr11:85837959..85840215-chr11:86014707..86016987,2	K562	blood:

Variant related genes	Relation type
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10792847	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10898445	0.83[CHB][hapmap]
rs10898470	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11234620	0.86[AFR][1000 genomes]
rs1376944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs167086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs167087	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs172364	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2444025	0.81[ASN][1000 genomes]
rs2513200	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2600951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2646727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2847471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs291197	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs291201	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs291202	0.81[ASN][1000 genomes]
rs291204	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs291205	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs291212	0.84[AFR][1000 genomes]
rs291213	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs291218	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs291224	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs291231	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs291232	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs291235	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs291236	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291239	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs291240	0.97[EUR][1000 genomes]
rs291245	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291246	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs291248	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs291249	0.80[EUR][1000 genomes]
rs291252	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs4424696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs6592283	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7103304	0.83[AFR][1000 genomes]
rs7114282	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7114791	0.82[ASN][1000 genomes]
rs7118102	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7122551	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7122914	0.86[AFR][1000 genomes];0.82[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
rs291244	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86014000-86016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86014000-86026000	Weak transcription	Placenta	Placenta
3	chr11:86014000-86030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:86014000-86030000	Weak transcription	Lung	lung
5	chr11:86014200-86015400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:86014200-86015400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:86014200-86016000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:86014200-86024600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:86014200-86024600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:86014200-86024800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:86014200-86028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:86014200-86030000	Weak transcription	Left Ventricle	heart
13	chr11:86014200-86031600	Weak transcription	Ovary	ovary
14	chr11:86014200-86052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:86014200-86055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:86014200-86057400	Weak transcription	Aorta	Aorta
17	chr11:86014400-86015400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:86014400-86015400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:86014400-86015400	Enhancers	Adipose Nuclei	Adipose
20	chr11:86014400-86024000	Weak transcription	Fetal Thymus	thymus
21	chr11:86014400-86024400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:86014400-86024600	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:86014400-86027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:86014400-86030000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:86014400-86034400	Weak transcription	HSMM	muscle
26	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
27	chr11:86014600-86015400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:86014600-86015400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:86014600-86015400	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:86014600-86015800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:86014600-86015800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:86014600-86016000	Weak transcription	Fetal Stomach	stomach
33	chr11:86014600-86016200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:86014600-86017000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:86014600-86018600	Weak transcription	Stomach Mucosa	stomach
36	chr11:86014600-86024000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:86014600-86024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:86014600-86024400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:86014600-86024400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:86014600-86024600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr11:86014600-86024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:86014600-86024600	Weak transcription	HMEC	breast
43	chr11:86014600-86024800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:86014600-86024800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:86014600-86024800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:86014600-86024800	Weak transcription	Liver	Liver
47	chr11:86014600-86024800	Weak transcription	Psoas Muscle	Psoas
48	chr11:86014600-86024800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:86014600-86025000	Weak transcription	Primary B cells from cord blood	blood
50	chr11:86014600-86026600	Weak transcription	Fetal Brain Male	brain

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