Variant report

Variant	rs4944562
Chromosome Location	chr11:85958760-85958761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85957358..85959718-chr11:85962458..85964568,2	K562	blood:
2	chr11:85957956..85960491-chr11:85965054..85967049,2	K562	blood:
3	chr11:85951079..85952582-chr11:85956879..85959583,2	K562	blood:
4	chr11:85958310..85960739-chr11:85984735..85987503,2	MCF-7	breast:
5	chr11:85374101..85375834-chr11:85958556..85961533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction
ENSG00000137504	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10792840	0.98[EUR][1000 genomes]
rs10898450	0.98[EUR][1000 genomes]
rs10898454	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10898455	0.91[EUR][1000 genomes]
rs10898456	0.98[EUR][1000 genomes]
rs11234583	0.92[EUR][1000 genomes]
rs11234585	0.85[EUR][1000 genomes]
rs11234586	0.96[EUR][1000 genomes]
rs11234587	0.90[EUR][1000 genomes]
rs11234591	0.91[EUR][1000 genomes]
rs11234592	0.98[EUR][1000 genomes]
rs11234595	0.90[EUR][1000 genomes]
rs1215001	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12225782	0.98[EUR][1000 genomes]
rs12226796	0.90[EUR][1000 genomes]
rs12282663	0.99[EUR][1000 genomes]
rs12574118	0.90[EUR][1000 genomes]
rs12577739	0.93[EUR][1000 genomes]
rs12800606	0.93[EUR][1000 genomes]
rs1376947	0.90[EUR][1000 genomes]
rs1391221	0.98[EUR][1000 genomes]
rs19039	0.90[EUR][1000 genomes]
rs291225	0.86[EUR][1000 genomes]
rs291227	0.90[EUR][1000 genomes]
rs291228	0.82[EUR][1000 genomes]
rs291230	0.90[EUR][1000 genomes]
rs291231	0.86[EUR][1000 genomes]
rs291232	0.86[EUR][1000 genomes]
rs291233	0.90[EUR][1000 genomes]
rs291234	0.82[EUR][1000 genomes]
rs291235	0.87[EUR][1000 genomes]
rs291236	0.84[EUR][1000 genomes]
rs291237	0.88[EUR][1000 genomes]
rs291238	0.88[EUR][1000 genomes]
rs291242	0.86[EUR][1000 genomes]
rs291247	0.83[EUR][1000 genomes]
rs291251	0.90[EUR][1000 genomes]
rs34095340	0.93[EUR][1000 genomes]
rs34972740	0.85[EUR][1000 genomes]
rs3923738	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4547120	0.99[EUR][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4944562	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957000-85958800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:85957000-85958800	Flanking Active TSS	Dnd41	blood
3	chr11:85957000-85963800	Weak transcription	Spleen	Spleen
4	chr11:85957200-85958800	Weak transcription	Left Ventricle	heart
5	chr11:85957200-85959200	Weak transcription	Gastric	stomach
6	chr11:85957200-85959800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:85957200-85959800	Weak transcription	Pancreas	Pancrea
8	chr11:85957200-85963800	Weak transcription	Lung	lung
9	chr11:85957200-85972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:85957200-85972400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:85957200-85972400	Weak transcription	Esophagus	oesophagus
12	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:85957400-85959200	Enhancers	Brain Angular Gyrus	brain
14	chr11:85957400-85959600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:85957400-85959600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:85957400-85959800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:85957400-85960000	Enhancers	Small Intestine	intestine
18	chr11:85957400-85961400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:85957400-85961600	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:85957400-85962400	Weak transcription	Placenta	Placenta
21	chr11:85957400-85967600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:85957400-85985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
24	chr11:85957600-85959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:85957600-85959000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:85957600-85959200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:85957600-85959400	Enhancers	Fetal Heart	heart
28	chr11:85957600-85959400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:85957600-85959600	Enhancers	Liver	Liver
30	chr11:85957600-85961200	Enhancers	Primary T cells from cord blood	blood
31	chr11:85957600-85961600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:85957800-85958800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:85957800-85958800	Weak transcription	Fetal Intestine Large	intestine
34	chr11:85957800-85958800	Weak transcription	Fetal Kidney	kidney
35	chr11:85957800-85958800	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:85957800-85958800	Enhancers	HSMM	muscle
37	chr11:85957800-85959000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:85957800-85959000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:85957800-85959000	Weak transcription	Ovary	ovary
40	chr11:85957800-85959000	Weak transcription	Right Ventricle	heart
41	chr11:85957800-85959200	Enhancers	Colon Smooth Muscle	Colon
42	chr11:85957800-85959200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:85957800-85959200	Enhancers	Fetal Lung	lung
44	chr11:85957800-85959200	Enhancers	HUVEC	blood vessel
45	chr11:85957800-85959400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:85957800-85959600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:85957800-85959800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:85957800-85959800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:85957800-85960000	Enhancers	Adipose Nuclei	Adipose
50	chr11:85957800-85960200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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