Variant report

Variant	rs73228514
Chromosome Location	chr3:111580715-111580716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111580329..111581908-chr3:111582056..111583865,2	MCF-7	breast:
2	chr3:111579110..111581393-chr3:111581603..111584247,2	MCF-7	breast:
3	chr17:57914576..57917044-chr3:111580672..111583133,2	MCF-7	breast:
4	chr14:77786295..77788288-chr3:111579023..111581381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17424938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17425250	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17490701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17491175	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55921603	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55954252	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56092121	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56105878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343172	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67396907	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6809779	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73226343	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73226349	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73226359	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73226368	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73226399	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73228508	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228515	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228521	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73228535	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73228543	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73228545	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228547	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228550	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228569	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7340610	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs937557	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111577400-111581000	Active TSS	Right Ventricle	heart
2	chr3:111577400-111581200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:111577400-111582000	Active TSS	Aorta	Aorta
4	chr3:111577400-111582000	Active TSS	HSMMtube	muscle
5	chr3:111577600-111581200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr3:111577600-111581800	Active TSS	Left Ventricle	heart
7	chr3:111577800-111580800	Active TSS	NHDF-Ad	bronchial
8	chr3:111577800-111581000	Active TSS	Rectal Smooth Muscle	rectum
9	chr3:111578000-111580800	Active TSS	NHLF	lung
10	chr3:111578000-111581000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:111578400-111581600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
12	chr3:111578800-111580800	Active TSS	Brain Hippocampus Middle	brain
13	chr3:111579200-111580800	Flanking Active TSS	Liver	Liver
14	chr3:111579200-111581200	Active TSS	Colonic Mucosa	Colon
15	chr3:111579200-111581400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
16	chr3:111579400-111581000	Weak transcription	Spleen	Spleen
17	chr3:111579400-111585000	Weak transcription	Gastric	stomach
18	chr3:111579600-111580800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:111579600-111584800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:111579800-111580800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr3:111579800-111580800	Enhancers	Brain Germinal Matrix	brain
22	chr3:111579800-111581600	Transcr. at gene 5' and 3'	NHEK	skin
23	chr3:111579800-111582400	Weak transcription	Small Intestine	intestine
24	chr3:111579800-111584400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:111579800-111588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:111579800-111589000	Weak transcription	Pancreas	Pancrea
27	chr3:111580000-111580800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr3:111580000-111580800	Flanking Active TSS	HUVEC	blood vessel
29	chr3:111580000-111581000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:111580000-111581400	Flanking Active TSS	Hela-S3	cervix
31	chr3:111580000-111589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:111580200-111580800	Enhancers	Fetal Intestine Small	intestine
33	chr3:111580200-111580800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr3:111580200-111580800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
35	chr3:111580200-111580800	Flanking Active TSS	HMEC	breast
36	chr3:111580200-111580800	Flanking Active TSS	NH-A	brain
37	chr3:111580200-111581200	Weak transcription	Stomach Mucosa	stomach
38	chr3:111580200-111581200	Active TSS	Osteobl	bone
39	chr3:111580200-111581800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:111580200-111582200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr3:111580200-111582400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr3:111580200-111582600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr3:111580200-111582800	Weak transcription	Fetal Intestine Large	intestine
44	chr3:111580400-111580800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:111580400-111580800	Flanking Active TSS	Fetal Heart	heart
46	chr3:111580400-111581000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:111580400-111581200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:111580400-111583000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr3:111580400-111583200	Enhancers	Duodenum Mucosa	Duodenum
50	chr3:111580400-111583800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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