Variant report

Variant	rs73830726
Chromosome Location	chr3:46120545-46120546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:45874102..45874933-chr3:46120010..46120588,2	MCF-7	breast:
2	chr3:45978817..45979385-chr3:46120279..46120902,2	K562	blood:
3	chr3:45965432..45966076-chr3:46120033..46120908,2	K562	blood:
4	chr3:46120227..46120919-chr3:46249276..46249992,2	K562	blood:
5	chr3:46068989..46069803-chr3:46120051..46120552,2	K562	blood:
6	chr3:45948473..45949050-chr3:46120491..46121161,2	K562	blood:
7	chr3:45970536..45971214-chr3:46120157..46120881,2	MCF-7	breast:
8	chr3:45881509..45882298-chr3:46120089..46120945,2	MCF-7	breast:
9	chr3:45987551..45988458-chr3:46119930..46120914,4	MCF-7	breast:
10	chr3:45883227..45883730-chr3:46120420..46120958,2	K562	blood:
11	chr3:45874039..45874833-chr3:46120082..46121076,3	MCF-7	breast:
12	chr3:46119918..46120790-chr3:46468852..46469539,2	K562	blood:
13	chr11:64122644..64123473-chr3:46119922..46120607,2	MCF-7	breast:
14	chr3:45801846..45803268-chr3:46119981..46120996,10	K562	blood:
15	chr3:45970362..45970959-chr3:46120109..46120778,2	MCF-7	breast:
16	chr3:45978760..45981889-chr3:46119716..46121321,25	MCF-7	breast:
17	chr12:118619592..118620348-chr3:46120462..46121012,2	MCF-7	breast:
18	chr3:45970248..45970774-chr3:46120086..46120929,2	K562	blood:
19	chr3:45971111..45971673-chr3:46120113..46120665,2	MCF-7	breast:
20	chr3:46120043..46120896-chr3:46249782..46250471,4	MCF-7	breast:
21	chr3:45816597..45817280-chr3:46120013..46120834,2	K562	blood:
22	chr3:45978672..45979831-chr3:46120014..46120974,3	MCF-7	breast:
23	chr3:45078980..45079910-chr3:46120092..46120914,3	K562	blood:
24	chr3:45979895..45980974-chr3:46119979..46120805,8	MCF-7	breast:
25	chr3:45267642..45268312-chr3:46119980..46120949,2	K562	blood:
26	chr3:46103249..46106082-chr3:46119956..46121890,2	K562	blood:
27	chr3:45979945..45981160-chr3:46119722..46121315,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168071	Chromatin interaction
ENSG00000173578	Chromatin interaction
ENSG00000163823	Chromatin interaction
ENSG00000163818	Chromatin interaction
ENSG00000249992	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1500006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41395345	1.00[AMR][1000 genomes]
rs57509359	1.00[AMR][1000 genomes]
rs57857531	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58692140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59253523	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59862185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60829665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854606	1.00[AMR][1000 genomes]
rs73830722	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830725	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830733	0.94[AFR][1000 genomes]
rs73830737	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830745	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830751	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830755	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830784	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46119800-46120800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr3:46119800-46120800	Enhancers	HSMMtube	muscle
3	chr3:46119800-46121000	Enhancers	Dnd41	blood
4	chr3:46120000-46120600	Enhancers	Primary T cells from cord blood	blood
5	chr3:46120000-46120600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr3:46120000-46120600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:46120000-46120600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:46120000-46120600	Enhancers	Fetal Stomach	stomach
9	chr3:46120000-46120800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:46120000-46120800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:46120000-46120800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:46120000-46121400	Enhancers	Fetal Thymus	thymus
13	chr3:46120000-46122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:46120000-46122400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:46120000-46124000	Enhancers	Fetal Lung	lung
16	chr3:46120200-46120600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr3:46120200-46120600	Active TSS	Primary B cells from cord blood	blood
18	chr3:46120200-46120600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:46120200-46120600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:46120200-46120600	Enhancers	Duodenum Mucosa	Duodenum
21	chr3:46120200-46120600	Active TSS	Fetal Brain Male	brain
22	chr3:46120200-46120600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr3:46120200-46120600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr3:46120200-46120600	Active TSS	Stomach Smooth Muscle	stomach
25	chr3:46120200-46120600	Flanking Active TSS	Hela-S3	cervix
26	chr3:46120200-46120800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:46120200-46120800	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:46120200-46120800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:46120200-46122400	Enhancers	NHLF	lung
30	chr3:46120200-46122600	Enhancers	Colon Smooth Muscle	Colon
31	chr3:46120400-46120600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:46120400-46120600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:46120400-46120600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:46120400-46120600	Active TSS	Brain Hippocampus Middle	brain
35	chr3:46120400-46120600	Enhancers	Placenta	Placenta
36	chr3:46120400-46120600	Bivalent/Poised TSS	K562	blood
37	chr3:46120400-46121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:46120400-46121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:46120400-46121600	Weak transcription	HMEC	breast
40	chr3:46120400-46121800	Weak transcription	Ovary	ovary
41	chr3:46120400-46121800	Weak transcription	NHEK	skin
42	chr3:46120400-46122000	Weak transcription	Osteobl	bone
43	chr3:46120400-46122200	Weak transcription	Adipose Nuclei	Adipose
44	chr3:46120400-46123000	Enhancers	NHDF-Ad	bronchial

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