Variant report

Variant	rs73283462
Chromosome Location	chr10:45495109-45495110
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:45494668-45496167	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45477663..45480121-chr10:45493873..45495746,2	K562	blood:
2	chr10:45454284..45457608-chr10:45494603..45497438,3	K562	blood:
3	chr10:45454284..45457115-chr10:45494603..45497911,3	K562	blood:
4	chr10:45477430..45479163-chr10:45492834..45495746,2	K562	blood:
5	chr10:45466696..45473467-chr10:45492241..45499604,15	K562	blood:
6	chr10:45472874..45475868-chr10:45493532..45497096,3	K562	blood:
7	chr10:45479436..45481246-chr10:45493873..45496540,2	K562	blood:
8	chr10:45494680..45497168-chr10:45675442..45677371,2	K562	blood:
9	chr10:45474000..45475702-chr10:45494679..45496847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF22	TF binding region
ENSG00000224812	Chromatin interaction
ENSG00000227683	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000165507	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs57644166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58139903	1.00[AMR][1000 genomes]
rs58684533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58720456	0.89[AFR][1000 genomes]
rs60575180	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60839064	1.00[AMR][1000 genomes]
rs73279386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283447	1.00[AMR][1000 genomes]
rs73283451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283455	1.00[AMR][1000 genomes]
rs73283464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287556	1.00[AMR][1000 genomes]
rs73287562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287567	0.85[AFR][1000 genomes]
rs73287569	0.85[AFR][1000 genomes]
rs73289694	0.84[AFR][1000 genomes]
rs73289697	0.84[AFR][1000 genomes]
rs73291604	0.84[AFR][1000 genomes]
rs73291615	0.89[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	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45478800-45495800	Weak transcription	HMEC	breast
2	chr10:45482400-45495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:45486000-45495600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:45486000-45495600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:45487200-45495600	Weak transcription	Brain Germinal Matrix	brain
6	chr10:45487200-45496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:45487400-45495600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:45487800-45495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:45488200-45496000	Enhancers	Placenta	Placenta
10	chr10:45488400-45495800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:45488800-45495600	Enhancers	Primary hematopoietic stem cells	blood
12	chr10:45489200-45495200	Enhancers	Dnd41	blood
13	chr10:45489200-45495600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:45489400-45495200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:45489400-45495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:45489600-45495800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:45490000-45495600	Weak transcription	Fetal Brain Female	brain
18	chr10:45490000-45496000	Enhancers	Right Ventricle	heart
19	chr10:45490200-45495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:45491000-45495800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:45491200-45495600	Enhancers	Osteobl	bone
22	chr10:45491200-45495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:45491400-45495800	Enhancers	Left Ventricle	heart
24	chr10:45491600-45495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:45491600-45496000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:45491800-45495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:45491800-45495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:45492000-45495600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr10:45492000-45495600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:45492000-45495600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr10:45492000-45495800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr10:45492200-45495200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr10:45492200-45495400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:45492200-45495400	Weak transcription	Primary B cells from cord blood	blood
35	chr10:45492200-45495600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr10:45492200-45495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:45492200-45495600	Weak transcription	GM12878-XiMat	blood
38	chr10:45492200-45495800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr10:45492200-45495800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr10:45492200-45496000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:45492200-45496200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr10:45492400-45495200	Enhancers	Liver	Liver
43	chr10:45492400-45495400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:45492400-45495400	Weak transcription	HSMM	muscle
45	chr10:45492400-45495600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr10:45492400-45495600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:45492400-45495600	Weak transcription	Fetal Intestine Large	intestine
48	chr10:45492400-45495600	Weak transcription	Spleen	Spleen
49	chr10:45492400-45495800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:45492400-45495800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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