Variant report

Variant	rs73488406
Chromosome Location	chr11:75315171-75315172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75303810..75306638-chr11:75313852..75316089,2	MCF-7	breast:
2	chr11:75110440..75111997-chr11:75313123..75315557,2	MCF-7	breast:
3	chr11:75314295..75316216-chr11:75317746..75319793,2	K562	blood:
4	chr11:75307063..75310368-chr11:75311136..75315425,4	K562	blood:
5	chr11:75301166..75302882-chr11:75313471..75315266,2	K562	blood:

Variant related genes	Relation type
ENSG00000255434	Chromatin interaction
ENSG00000171533	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56746045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58467034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59339204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59997537	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60569457	1.00[AMR][1000 genomes]
rs60597680	1.00[AMR][1000 genomes]
rs73488403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488413	1.00[AMR][1000 genomes]
rs73488414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488417	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488418	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488421	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488426	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505038	1.00[AMR][1000 genomes]
rs73505054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505058	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505059	1.00[AMR][1000 genomes]
rs73505062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75295800-75316400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:75296600-75321000	Weak transcription	Ovary	ovary
4	chr11:75305000-75328800	Weak transcription	Pancreas	Pancrea
5	chr11:75305600-75316000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:75305800-75316000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:75306000-75326200	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:75306000-75326200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:75306400-75323600	Weak transcription	Spleen	Spleen
11	chr11:75306600-75324200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:75307000-75316000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:75309200-75316600	Weak transcription	Brain Germinal Matrix	brain
14	chr11:75309200-75320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:75309600-75319400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:75309800-75320200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:75310200-75329800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:75310800-75316000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:75311600-75324000	Weak transcription	Right Atrium	heart
20	chr11:75312600-75319600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:75313400-75316200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:75313600-75315200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:75313600-75315600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:75313800-75315200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:75313800-75315400	Enhancers	Fetal Lung	lung
26	chr11:75313800-75315600	Enhancers	HMEC	breast
27	chr11:75313800-75315600	Enhancers	NHEK	skin
28	chr11:75313800-75316200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:75313800-75316400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:75313800-75326000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:75314000-75315200	Enhancers	NHDF-Ad	bronchial
32	chr11:75314000-75315400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:75314000-75315400	Genic enhancers	Fetal Brain Female	brain
34	chr11:75314000-75315400	Enhancers	Fetal Heart	heart
35	chr11:75314000-75315400	Enhancers	NHLF	lung
36	chr11:75314000-75315600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:75314000-75315600	Enhancers	HSMM	muscle
38	chr11:75314000-75315800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:75314000-75315800	Enhancers	Hela-S3	cervix
40	chr11:75314000-75316000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:75314000-75316000	Flanking Active TSS	Osteobl	bone
42	chr11:75314000-75328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:75314200-75315600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:75314200-75315600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:75314200-75316000	Enhancers	Fetal Brain Male	brain
46	chr11:75314200-75316000	Enhancers	Lung	lung
47	chr11:75314400-75317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:75314600-75315200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:75314600-75315400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:75314600-75315600	Enhancers	A549	lung

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