Variant report

Variant	rs13069446
Chromosome Location	chr3:48593926-48593927
allele	C/T
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48593498..48596370-chr3:48671883..48674161,2	K562	blood:
2	chr3:48540167..48542954-chr3:48592530..48594484,3	MCF-7	breast:
3	chr3:48514328..48516205-chr3:48592157..48594449,2	K562	blood:
4	chr3:48485360..48488247-chr3:48592326..48594026,2	K562	blood:
5	chr3:48505137..48507791-chr3:48593397..48596225,2	K562	blood:
6	chr3:48588396..48589916-chr3:48592677..48594221,2	K562	blood:
7	chr3:48484123..48488497-chr3:48591865..48597132,6	K562	blood:
8	chr3:48228556..48231473-chr3:48592024..48594297,2	K562	blood:
9	chr3:48507541..48509747-chr3:48593128..48595485,2	MCF-7	breast:
10	chr3:48584950..48588174-chr3:48591529..48594760,3	K562	blood:
11	chr3:48593030..48597118-chr3:48698507..48702121,6	MCF-7	breast:
12	chr3:48510260..48512404-chr3:48592890..48595693,2	MCF-7	breast:
13	chr3:48481270..48483185-chr3:48591513..48595174,3	MCF-7	breast:
14	chr3:48507211..48510003-chr3:48593897..48596885,2	MCF-7	breast:
15	chr3:48228234..48229903-chr3:48593105..48594708,2	K562	blood:
16	chr3:48586074..48587895-chr3:48593005..48594952,2	MCF-7	breast:
17	chr3:48282593..48284828-chr3:48592710..48595263,2	K562	blood:
18	chr2:106800399..106802309-chr3:48592258..48594170,2	MCF-7	breast:
19	chr3:48592800..48598084-chr3:48598125..48603493,9	MCF-7	breast:
20	chr3:48592797..48594664-chr3:48671142..48674033,2	MCF-7	breast:
21	chr3:48592861..48595715-chr3:48598424..48603731,6	K562	blood:
22	chr3:48593859..48595612-chr3:48717016..48718760,2	MCF-7	breast:
23	chr3:48591611..48596652-chr3:48640512..48642956,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213689	Chromatin interaction
ENSG00000145040	Chromatin interaction
ENSG00000213672	Chromatin interaction
ENSG00000225697	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000164045	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000164048	Chromatin interaction
ENSG00000008300	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000164053	Chromatin interaction
ENSG00000010256	Chromatin interaction
ENSG00000114270	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13063742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13074318	1.00[AFR][1000 genomes]
rs35755371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078349	1.00[AFR][1000 genomes]
rs73078362	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48576000-48594000	Weak transcription	Small Intestine	intestine
2	chr3:48589600-48594000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr3:48592400-48594000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:48592400-48594200	Flanking Active TSS	Fetal Intestine Small	intestine
5	chr3:48592600-48594000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:48592600-48594000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:48592600-48594000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:48592600-48594000	Flanking Active TSS	Fetal Brain Female	brain
9	chr3:48592600-48594200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr3:48592600-48594200	Enhancers	Fetal Heart	heart
11	chr3:48592600-48594200	Flanking Active TSS	Dnd41	blood
12	chr3:48592600-48594200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:48592600-48595400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:48592800-48594000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr3:48593000-48594600	Active TSS	Duodenum Mucosa	Duodenum
16	chr3:48593000-48595400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr3:48593000-48595400	Active TSS	K562	blood
18	chr3:48593200-48594000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:48593200-48594000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:48593200-48594000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr3:48593200-48594000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:48593200-48594000	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr3:48593200-48594000	Flanking Active TSS	Hela-S3	cervix
24	chr3:48593200-48594000	Flanking Active TSS	HMEC	breast
25	chr3:48593200-48594200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr3:48593200-48594200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:48593200-48594600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr3:48593200-48595200	Active TSS	Rectal Smooth Muscle	rectum
29	chr3:48593400-48594000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr3:48593400-48594000	Enhancers	Primary T cells from cord blood	blood
31	chr3:48593400-48594000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:48593400-48594000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:48593400-48594000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr3:48593400-48594000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:48593400-48594000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr3:48593400-48594000	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr3:48593400-48594000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr3:48593400-48594000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:48593400-48594000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:48593400-48594000	Flanking Active TSS	Fetal Lung	lung
41	chr3:48593400-48594000	Flanking Active TSS	Pancreas	Pancrea
42	chr3:48593400-48594000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr3:48593400-48594000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr3:48593400-48594000	Flanking Active TSS	NHLF	lung
45	chr3:48593400-48594200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:48593400-48594200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr3:48593400-48594200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:48593400-48594200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:48593400-48594200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:48593400-48594600	Active TSS	HSMMtube	muscle

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