Variant report

Variant	rs73505059
Chromosome Location	chr11:75312786-75312787
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	EGR1	chr11:75312603-75312868	K562	blood:	n/a	chr11:75312750-75312763 chr11:75312750-75312763 chr11:75312751-75312761 chr11:75312745-75312767 chr11:75312749-75312763 chr11:75312750-75312757 chr11:75312751-75312762 chr11:75312749-75312764
2	BHLHE40	chr11:75312604-75312912	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75300955..75303258-chr11:75311375..75313698,2	K562	blood:
2	chr11:75312170..75314100-chr11:75522563..75524290,2	K562	blood:
3	chr11:75310100..75313043-chr11:75343233..75344742,2	MCF-7	breast:
4	chr11:75312291..75314433-chr11:75317932..75319795,2	MCF-7	breast:
5	chr11:75307063..75310368-chr11:75311136..75315425,4	K562	blood:

Variant related genes	Relation type
ENSG00000255434	TF binding region
MAP6	TF binding region
ENSG00000171533	Chromatin interaction
ENSG00000255434	Chromatin interaction
ENSG00000255507	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	1.00[AMR][1000 genomes]
rs58467034	1.00[AMR][1000 genomes]
rs59339204	1.00[AMR][1000 genomes]
rs59997537	1.00[AMR][1000 genomes]
rs60569457	1.00[AMR][1000 genomes]
rs60597680	1.00[AMR][1000 genomes]
rs73488403	1.00[AMR][1000 genomes]
rs73488406	1.00[AMR][1000 genomes]
rs73488413	1.00[AMR][1000 genomes]
rs73488414	1.00[AMR][1000 genomes]
rs73488417	1.00[AMR][1000 genomes]
rs73488418	1.00[AMR][1000 genomes]
rs73488420	1.00[AMR][1000 genomes]
rs73488421	1.00[AMR][1000 genomes]
rs73488422	1.00[AMR][1000 genomes]
rs73488426	1.00[AMR][1000 genomes]
rs73505038	1.00[AMR][1000 genomes]
rs73505054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505058	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505062	1.00[AMR][1000 genomes]
rs73505063	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75295600-75314200	Weak transcription	Lung	lung
3	chr11:75295800-75316400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:75296600-75321000	Weak transcription	Ovary	ovary
5	chr11:75301600-75313800	Weak transcription	Fetal Lung	lung
6	chr11:75305000-75328800	Weak transcription	Pancreas	Pancrea
7	chr11:75305600-75316000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:75305800-75313400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:75305800-75316000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:75305800-75346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:75306000-75326200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:75306000-75326200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:75306400-75313400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:75306400-75323600	Weak transcription	Spleen	Spleen
15	chr11:75306600-75324200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:75307000-75316000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:75309200-75314200	Weak transcription	Fetal Brain Male	brain
18	chr11:75309200-75314200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:75309200-75316600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:75309200-75320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:75309600-75319400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:75309800-75314200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:75309800-75320200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:75310200-75313000	Weak transcription	Fetal Brain Female	brain
25	chr11:75310200-75329800	Weak transcription	Fetal Intestine Small	intestine
26	chr11:75310800-75316000	Weak transcription	Fetal Intestine Large	intestine
27	chr11:75311200-75313800	Weak transcription	NHEK	skin
28	chr11:75311200-75314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:75311400-75314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:75311600-75324000	Weak transcription	Right Atrium	heart
31	chr11:75312600-75313000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:75312600-75313400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:75312600-75313800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:75312600-75313800	Strong transcription	Fetal Stomach	stomach
35	chr11:75312600-75314400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:75312600-75319600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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