Variant report

Variant	rs73491770
Chromosome Location	chr11:75586242-75586243
allele	G/T
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	MAFF	chr11:75586000-75586359	HepG2	liver:	n/a	chr11:75586172-75586190
2	MAFK	chr11:75586005-75586360	IMR90	lung:	n/a	chr11:75586174-75586189 chr11:75586174-75586185 chr11:75586174-75586185
3	MAFK	chr11:75586051-75586339	Hela-S3	cervix:	n/a	chr11:75586174-75586189 chr11:75586174-75586185 chr11:75586174-75586185
4	MAFK	chr11:75586006-75586351	HepG2	liver:	n/a	chr11:75586174-75586189 chr11:75586174-75586185 chr11:75586174-75586185
5	MAFK	chr11:75586003-75586372	HepG2	liver:	n/a	chr11:75586174-75586189 chr11:75586174-75586185 chr11:75586174-75586185
6	MAFK	chr11:75586112-75586312	H1-hESC	embryonic stem cell:	n/a	chr11:75586174-75586189 chr11:75586174-75586185 chr11:75586174-75586185
7	MAFF	chr11:75586001-75586350	K562	blood:	n/a	chr11:75586172-75586190
8	MAFK	chr11:75586009-75586344	K562	blood:	n/a	chr11:75586174-75586189 chr11:75586174-75586185 chr11:75586174-75586185

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75577933..75580535-chr11:75581505..75587354,5	K562	blood:
2	chr11:75526272..75528205-chr11:75585232..75586994,2	K562	blood:

Variant related genes	Relation type
UVRAG	TF binding region
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55758113	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55916175	0.85[AMR][1000 genomes]
rs55984423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56174731	0.85[AMR][1000 genomes]
rs56709863	0.85[AMR][1000 genomes]
rs58442571	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58700432	0.85[AMR][1000 genomes]
rs59330958	0.85[AMR][1000 genomes]
rs59337469	0.85[AMR][1000 genomes]
rs59790182	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60012502	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60178265	0.85[AMR][1000 genomes]
rs60331805	0.85[AMR][1000 genomes]
rs60369507	0.85[AMR][1000 genomes]
rs60594722	0.85[AMR][1000 genomes]
rs61338611	0.85[AMR][1000 genomes]
rs7119278	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7119400	0.81[AFR][1000 genomes]
rs73491754	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491758	0.87[AMR][1000 genomes]
rs73491761	0.83[AFR][1000 genomes]
rs73491773	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73491786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491787	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73491790	0.85[AMR][1000 genomes]
rs73491799	0.85[AMR][1000 genomes]
rs73491800	0.85[AMR][1000 genomes]
rs73491802	0.85[AMR][1000 genomes]
rs73493917	0.85[AMR][1000 genomes]
rs7933675	0.89[AFR][1000 genomes]
rs7939821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945859	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75538800-75591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:75547600-75600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:75549800-75602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:75553800-75600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:75557400-75586800	Weak transcription	Ovary	ovary
6	chr11:75558400-75602800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:75562000-75586400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:75562200-75590800	Weak transcription	Thymus	Thymus
9	chr11:75562600-75591400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:75562800-75610800	Weak transcription	HSMMtube	muscle
12	chr11:75565400-75591400	Weak transcription	Fetal Stomach	stomach
13	chr11:75565400-75592000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:75565800-75591400	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:75566400-75587400	Weak transcription	HepG2	liver
16	chr11:75568000-75591200	Weak transcription	Placenta	Placenta
17	chr11:75570000-75610600	Weak transcription	NHDF-Ad	bronchial
18	chr11:75570200-75600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:75570200-75610400	Weak transcription	Osteobl	bone
20	chr11:75571800-75603200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:75572600-75591200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:75572600-75603200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:75574000-75590400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:75574200-75587200	Weak transcription	Dnd41	blood
25	chr11:75574200-75590400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:75574200-75603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:75574800-75590200	Weak transcription	Primary T cells from cord blood	blood
28	chr11:75576000-75603000	Weak transcription	Hela-S3	cervix
29	chr11:75579200-75586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:75579200-75610000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:75579600-75586800	Weak transcription	Left Ventricle	heart
32	chr11:75580200-75592000	Weak transcription	Pancreas	Pancrea
33	chr11:75580400-75586800	Weak transcription	Psoas Muscle	Psoas
34	chr11:75580400-75610800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:75580800-75603200	Weak transcription	Fetal Kidney	kidney
36	chr11:75581000-75599800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:75581400-75590000	Weak transcription	HUVEC	blood vessel
38	chr11:75582200-75587800	Enhancers	Brain Substantia Nigra	brain
39	chr11:75582200-75600600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:75583200-75587600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:75583800-75586400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:75583800-75587800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:75583800-75587800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:75584600-75624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:75584800-75587800	Enhancers	Adipose Nuclei	Adipose
46	chr11:75585000-75592200	Weak transcription	Gastric	stomach
47	chr11:75585000-75595200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:75585000-75603200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:75585000-75610000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:75585000-75628400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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