Variant report

Variant	rs687688
Chromosome Location	chr11:94276592-94276593
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	MAX	chr11:94276463-94278246	HCT-116	colon:	n/a	chr11:94276987-94276997
2	RELA	chr11:94276144-94277715	GM19193	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
3	POLR2A	chr11:94276324-94278276	GM19193	blood:	n/a	n/a
4	TBL1XR1	chr11:94276542-94276859	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:94276533-94279695	HL-60	blood:	n/a	n/a
6	TBP	chr11:94276422-94277646	GM12878	blood:	n/a	n/a
7	MAFK	chr11:94276393-94276640	HepG2	liver:	n/a	chr11:94276507-94276523 chr11:94276511-94276522 chr11:94276511-94276522
8	RELA	chr11:94276139-94277472	GM19099	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
9	PML	chr11:94276586-94277678	GM12878	blood:	n/a	n/a
10	MAFF	chr11:94276386-94276648	HepG2	liver:	n/a	chr11:94276506-94276524
11	MAX	chr11:94276554-94277920	A549	lung:	n/a	chr11:94276987-94276997
12	POLR2A	chr11:94276155-94277714	GM12891	blood:	n/a	n/a
13	RELA	chr11:94276170-94276993	GM12878	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
14	BHLHE40	chr11:94276557-94277735	K562	blood:	n/a	chr11:94276897-94276913
15	RELA	chr11:94276175-94277787	GM18951	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329
16	POLR2A	chr11:94276588-94279458	NB4	blood:	n/a	n/a
17	POLR2A	chr11:94276074-94277866	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:94276339-94277866	PANC-1	pancreas:	n/a	n/a
19	MAX	chr11:94276446-94279542	NB4	blood:	n/a	chr11:94276987-94276997
20	NRF1	chr11:94276530-94276713	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:94276052-94281337	HL-60	blood:	n/a	n/a
22	SETDB1	chr11:94276566-94277038	U2OS	brain:	n/a	n/a
23	HCFC1	chr11:94276424-94277821	Hela-S3	cervix:	n/a	n/a
24	MYC	chr11:94276506-94279586	NB4	blood:	n/a	chr11:94276987-94276997
25	TBL1XR1	chr11:94276576-94277135	K562	blood:	n/a	n/a
26	POLR2A	chr11:94276231-94277776	PANC-1	pancreas:	n/a	n/a
27	MXI1	chr11:94276357-94279219	IMR90	lung:	n/a	n/a
28	SMC3	chr11:94276563-94277661	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:94276417-94277936	GM19099	blood:	n/a	n/a
30	RCOR1	chr11:94276437-94277688	GM12878	blood:	n/a	n/a
31	RELA	chr11:94276103-94277920	GM12891	blood:	n/a	chr11:94276320-94276329 chr11:94276320-94276329

No.	Distal block	Cell Line	Cell type
1	chr11:94273988..94276726-chr11:94311479..94314894,4	K562	blood:
2	chr11:94225466..94228271-chr11:94275709..94278301,3	K562	blood:
3	chr11:94226771..94229140-chr11:94275887..94279295,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRE11A-3	chr11:94276131-94277949	NONHSAT023724
2	lnc-MRE11A-3	chr11:94275325-94277016	NONHSAT023723

Variant related genes	Relation type
FUT4	TF binding region
PIWIL4	TF binding region
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

rs_ID	r²[population]
rs11020927	1.00[EUR][1000 genomes]
rs12293091	1.00[EUR][1000 genomes]
rs2068909	1.00[EUR][1000 genomes]
rs4593975	1.00[EUR][1000 genomes]
rs505417	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs511184	1.00[EUR][1000 genomes]
rs532108	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs608452	1.00[EUR][1000 genomes]
rs646053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483328	1.00[EUR][1000 genomes]
rs6483333	1.00[EUR][1000 genomes]
rs7101762	1.00[EUR][1000 genomes]
rs73523954	1.00[EUR][1000 genomes]
rs73525821	1.00[EUR][1000 genomes]
rs73525842	1.00[EUR][1000 genomes]
rs73525844	1.00[EUR][1000 genomes]
rs73525853	1.00[EUR][1000 genomes]
rs73525861	1.00[EUR][1000 genomes]

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94271200-94276600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:94271200-94276800	Weak transcription	HMEC	breast
3	chr11:94272600-94276800	Weak transcription	Small Intestine	intestine
4	chr11:94275400-94276800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:94275800-94276600	Enhancers	Stomach Mucosa	stomach
6	chr11:94276000-94276600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:94276000-94276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:94276200-94276600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:94276200-94276600	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:94276200-94276600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:94276200-94276600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:94276200-94276600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:94276200-94276600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:94276200-94276600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr11:94276200-94276600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:94276200-94276600	Enhancers	Aorta	Aorta
17	chr11:94276200-94276600	Enhancers	Brain Angular Gyrus	brain
18	chr11:94276200-94276600	Enhancers	Fetal Thymus	thymus
19	chr11:94276200-94276600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:94276200-94276600	Enhancers	Thymus	Thymus
21	chr11:94276200-94276600	Flanking Active TSS	A549	lung
22	chr11:94276200-94276800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:94276200-94276800	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:94276200-94277000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:94276200-94277000	Flanking Active TSS	Dnd41	blood
26	chr11:94276200-94277000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:94276200-94277200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:94276200-94277800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:94276400-94276600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr11:94276400-94276600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:94276400-94276600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:94276400-94276600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:94276400-94276600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:94276400-94276600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:94276400-94276600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:94276400-94276600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:94276400-94276600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:94276400-94276600	Enhancers	Fetal Brain Female	brain
39	chr11:94276400-94276600	Enhancers	Fetal Heart	heart
40	chr11:94276400-94276600	Enhancers	Fetal Muscle Leg	muscle
41	chr11:94276400-94276600	Enhancers	Fetal Stomach	stomach
42	chr11:94276400-94276600	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:94276400-94276600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:94276400-94276600	Enhancers	K562	blood
45	chr11:94276400-94276600	Enhancers	NH-A	brain
46	chr11:94276400-94276600	Active TSS	Osteobl	bone
47	chr11:94276400-94276800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:94276400-94276800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:94276400-94276800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr11:94276400-94276800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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