Variant report

Variant	rs73283471
Chromosome Location	chr10:45496326-45496327
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45454284..45457608-chr10:45494603..45497438,3	K562	blood:
2	chr10:45454284..45457115-chr10:45494603..45497911,3	K562	blood:
3	chr10:45466696..45473467-chr10:45492241..45499604,15	K562	blood:
4	chr10:45472874..45475868-chr10:45493532..45497096,3	K562	blood:
5	chr10:45479436..45481246-chr10:45493873..45496540,2	K562	blood:
6	chr10:45494680..45497168-chr10:45675442..45677371,2	K562	blood:
7	chr10:45474000..45475702-chr10:45494679..45496847,2	MCF-7	breast:
8	chr10:45495745..45498371-chr10:45630285..45633118,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107551	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000165507	Chromatin interaction
ENSG00000226937	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000227683	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10047345	0.89[EUR][1000 genomes]
rs11239310	0.92[EUR][1000 genomes]
rs11239337	0.89[EUR][1000 genomes]
rs11494	0.92[EUR][1000 genomes]
rs12257275	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12264627	0.92[EUR][1000 genomes]
rs17157327	0.94[EUR][1000 genomes]
rs17157328	0.94[EUR][1000 genomes]
rs2095088	0.80[EUR][1000 genomes]
rs2104898	0.94[EUR][1000 genomes]
rs41301613	0.83[EUR][1000 genomes]
rs4573635	0.92[EUR][1000 genomes]
rs56259997	0.92[EUR][1000 genomes]
rs57046651	0.92[EUR][1000 genomes]
rs59085162	0.92[EUR][1000 genomes]
rs60581169	0.92[EUR][1000 genomes]
rs61183370	0.87[EUR][1000 genomes]
rs6593454	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7080655	0.94[EUR][1000 genomes]
rs7095202	0.89[EUR][1000 genomes]
rs72782417	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7902918	0.94[EUR][1000 genomes]
rs7915377	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7918953	0.94[EUR][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	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831848	chr10:45490176-45667670	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 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	chr10:45492600-45497800	Enhancers	HepG2	liver
2	chr10:45495200-45496400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:45495200-45496400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:45495400-45496400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr10:45495600-45496400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:45495600-45496400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr10:45495600-45496800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:45495600-45497400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:45495600-45498000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:45495800-45496400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr10:45495800-45496400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr10:45495800-45496400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:45495800-45496400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr10:45495800-45496400	Flanking Active TSS	K562	blood
15	chr10:45495800-45496400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr10:45495800-45496800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr10:45495800-45496800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:45495800-45496800	Active TSS	Placenta Amnion	Placenta Amnion
19	chr10:45495800-45496800	Active TSS	A549	lung
20	chr10:45495800-45497000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:45495800-45497000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:45495800-45497200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr10:45495800-45497200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:45495800-45497400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr10:45495800-45497600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:45495800-45497600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr10:45495800-45497800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr10:45496000-45496400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:45496000-45496400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr10:45496000-45496400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:45496000-45496400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr10:45496000-45496400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:45496000-45496400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:45496000-45496400	Enhancers	Gastric	stomach
35	chr10:45496000-45496400	Flanking Active TSS	Right Ventricle	heart
36	chr10:45496000-45496400	Flanking Active TSS	Small Intestine	intestine
37	chr10:45496000-45496800	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr10:45496000-45496800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr10:45496000-45496800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr10:45496000-45497000	Active TSS	Liver	Liver
41	chr10:45496000-45497200	Active TSS	Fetal Brain Female	brain
42	chr10:45496000-45497200	Active TSS	Lung	lung
43	chr10:45496000-45497200	Active TSS	Ovary	ovary
44	chr10:45496000-45497200	Active TSS	Rectal Smooth Muscle	rectum
45	chr10:45496000-45497400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:45496000-45497400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:45496000-45497400	Active TSS	Aorta	Aorta
48	chr10:45496000-45497400	Active TSS	Brain Germinal Matrix	brain
49	chr10:45496000-45497400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:45496000-45497400	Active TSS	Fetal Lung	lung

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