Variant report

Variant	rs73485057
Chromosome Location	chr13:48808572-48808573
allele	A/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: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	chr13:48806118..48810225-chr13:48876144..48879386,12	MCF-7	breast:
2	chr13:48806544..48809798-chr13:48876519..48878974,4	K562	blood:
3	chr13:48801755..48804565-chr13:48807877..48810629,2	K562	blood:
4	chr13:48667088..48669248-chr13:48807095..48809011,2	K562	blood:
5	chr13:48807403..48809674-chr13:48828409..48830579,2	K562	blood:
6	chr13:48806625..48809806-chr13:48877426..48879405,3	K562	blood:
7	chr13:48575152..48576683-chr13:48807803..48809574,2	K562	blood:
8	chr13:48807837..48812135-chr13:48876736..48879539,4	MCF-7	breast:
9	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
10	chr13:48668651..48670754-chr13:48805441..48808765,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136146	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000227848	Chromatin interaction
ENSG00000139687	Chromatin interaction
ENSG00000231473	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs7332376	1.00[EUR][1000 genomes]
rs73485044	1.00[EUR][1000 genomes]
rs73485047	1.00[EUR][1000 genomes]
rs73485054	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332251	0.85[AFR][1000 genomes]
rs9332256	0.85[AFR][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 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	chr13:48806200-48809800	Active TSS	Brain Angular Gyrus	brain
2	chr13:48806600-48808600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:48806600-48808800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48806600-48809200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:48806600-48809400	Active TSS	HSMM	muscle
6	chr13:48806600-48809800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr13:48806600-48809800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr13:48806600-48809800	Active TSS	Brain Substantia Nigra	brain
9	chr13:48806600-48810000	Active TSS	Colonic Mucosa	Colon
10	chr13:48806600-48810000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr13:48806600-48810000	Active TSS	NHLF	lung
12	chr13:48806600-48810400	Active TSS	Aorta	Aorta
13	chr13:48806600-48811000	Active TSS	Psoas Muscle	Psoas
14	chr13:48806600-48811000	Active TSS	Right Ventricle	heart
15	chr13:48806600-48812200	Active TSS	Ovary	ovary
16	chr13:48806600-48812200	Active TSS	Right Atrium	heart
17	chr13:48806800-48808600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr13:48806800-48808600	Active TSS	Stomach Mucosa	stomach
19	chr13:48806800-48808800	Active TSS	Fetal Heart	heart
20	chr13:48806800-48809200	Active TSS	NH-A	brain
21	chr13:48806800-48809400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:48806800-48809400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr13:48806800-48809400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:48806800-48809400	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr13:48806800-48809400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr13:48806800-48809400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr13:48806800-48809800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:48806800-48809800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr13:48806800-48809800	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr13:48806800-48810000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr13:48806800-48810000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:48806800-48810000	Active TSS	Colon Smooth Muscle	Colon
33	chr13:48806800-48810200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:48806800-48810200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr13:48806800-48810400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr13:48806800-48810400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:48806800-48810600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr13:48807000-48808800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:48807000-48808800	Active TSS	Primary T cells from cord blood	blood
40	chr13:48807000-48808800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr13:48807000-48808800	Active TSS	Osteobl	bone
42	chr13:48807000-48809000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr13:48807000-48809000	Active TSS	Fetal Brain Male	brain
44	chr13:48807000-48809000	Active TSS	Fetal Lung	lung
45	chr13:48807000-48809000	Active TSS	Hela-S3	cervix
46	chr13:48807000-48809200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:48807000-48809200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr13:48807000-48809200	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr13:48807000-48809200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:48807000-48809200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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