Variant report

Variant	rs73782724
Chromosome Location	chr5:114960672-114960673
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114880215..114881730-chr5:114959993..114961960,2	K562	blood:
2	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:
3	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
4	chr5:114823713..114825523-chr5:114959295..114961713,2	K562	blood:
5	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
6	chr5:114959972..114961559-chr5:114968559..114970452,2	K562	blood:
7	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:
8	chr5:114630095..114632050-chr5:114960167..114962829,2	MCF-7	breast:
9	chr5:114960090..114964183-chr5:115419193..115421485,4	MCF-7	breast:
10	chr5:114959625..114963439-chr5:115175786..115178902,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177879	Chromatin interaction
ENSG00000145781	Chromatin interaction
ENSG00000249944	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000145780	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000249249	Chromatin interaction
ENSG00000164221	Chromatin interaction
ENSG00000271918	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56323508	1.00[AMR][1000 genomes]
rs60942061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61680130	1.00[AMR][1000 genomes]
rs73780309	1.00[AMR][1000 genomes]
rs73780317	1.00[AMR][1000 genomes]
rs73780389	1.00[AMR][1000 genomes]
rs73780604	1.00[AMR][1000 genomes]
rs73782717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782726	1.00[AFR][1000 genomes];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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114958000-114961200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:114958600-114960800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:114958800-114960800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr5:114958800-114960800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr5:114958800-114961000	Flanking Active TSS	Liver	Liver
6	chr5:114958800-114962400	Active TSS	Aorta	Aorta
7	chr5:114959000-114961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:114959200-114960800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:114959200-114960800	Flanking Active TSS	HUVEC	blood vessel
10	chr5:114959200-114961000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr5:114959200-114962400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:114959400-114961000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:114959400-114962400	Active TSS	Fetal Intestine Large	intestine
14	chr5:114959400-114962400	Active TSS	Left Ventricle	heart
15	chr5:114959600-114960800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:114959600-114961000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr5:114959600-114961000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr5:114959600-114961200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr5:114959600-114961400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:114959600-114962600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:114959600-114962800	Active TSS	GM12878-XiMat	blood
22	chr5:114959800-114960800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:114959800-114960800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:114959800-114960800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:114959800-114960800	Flanking Active TSS	Colonic Mucosa	Colon
26	chr5:114959800-114961000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:114959800-114961000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:114959800-114961000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:114959800-114961000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:114959800-114961200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr5:114959800-114961600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:114959800-114962400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:114960000-114960800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:114960000-114960800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr5:114960000-114960800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr5:114960000-114961000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr5:114960000-114961000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr5:114960000-114961000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr5:114960000-114961000	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr5:114960000-114961000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr5:114960000-114961000	Flanking Active TSS	Fetal Brain Male	brain
42	chr5:114960000-114961000	Flanking Active TSS	Fetal Lung	lung
43	chr5:114960000-114961000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr5:114960000-114961000	Flanking Active TSS	Thymus	Thymus
45	chr5:114960000-114961200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr5:114960000-114961200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr5:114960000-114961400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr5:114960000-114961400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr5:114960000-114961600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr5:114960000-114961600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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