Variant report

Variant	rs73283455
Chromosome Location	chr10:45490978-45490979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:45490497-45491083	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:45490404-45491041	U87	brain:	n/a	n/a
3	POLR2A	chr10:45490763-45493058	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:45490519-45491053	HL-60	blood:	n/a	n/a
5	POLR2A	chr10:45489983-45493423	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:45490674-45493096	HepG2	liver:	n/a	n/a
7	MAX	chr10:45490675-45492276	NB4	blood:	n/a	chr10:45491936-45491947 chr10:45491642-45491651
8	POLR2A	chr10:45490236-45491293	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45428885..45431662-chr10:45490818..45493446,2	K562	blood:

Variant related genes	Relation type
ZNF22	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs57644166	1.00[AMR][1000 genomes]
rs58139903	1.00[AMR][1000 genomes]
rs58684533	1.00[AMR][1000 genomes]
rs60575180	1.00[AMR][1000 genomes]
rs60839064	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279386	1.00[AMR][1000 genomes]
rs73281403	1.00[AMR][1000 genomes]
rs73281405	1.00[AMR][1000 genomes]
rs73283447	1.00[AMR][1000 genomes]
rs73283451	1.00[AMR][1000 genomes]
rs73283462	1.00[AMR][1000 genomes]
rs73283464	1.00[AMR][1000 genomes]
rs73283470	1.00[AMR][1000 genomes]
rs73285555	1.00[AMR][1000 genomes]
rs73285558	1.00[AMR][1000 genomes]
rs73287510	1.00[AMR][1000 genomes]
rs73287546	1.00[AMR][1000 genomes]
rs73287549	1.00[AMR][1000 genomes]
rs73287556	1.00[AMR][1000 genomes]
rs73287562	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45476800-45491400	Weak transcription	Fetal Kidney	kidney
2	chr10:45478800-45495800	Weak transcription	HMEC	breast
3	chr10:45482200-45491200	Weak transcription	Fetal Lung	lung
4	chr10:45482400-45495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:45484000-45491000	Genic enhancers	Left Ventricle	heart
6	chr10:45484200-45494200	Enhancers	Right Atrium	heart
7	chr10:45484600-45494200	Enhancers	Ovary	ovary
8	chr10:45484800-45491000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr10:45485200-45493600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:45486000-45495600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:45486000-45495600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:45486400-45491000	Strong transcription	Fetal Intestine Small	intestine
13	chr10:45487200-45495600	Weak transcription	Brain Germinal Matrix	brain
14	chr10:45487200-45496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:45487400-45495600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:45487800-45491200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:45487800-45495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr10:45488200-45492000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:45488200-45492000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr10:45488200-45496000	Enhancers	Placenta	Placenta
21	chr10:45488400-45495800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:45488800-45491200	Weak transcription	Fetal Stomach	stomach
23	chr10:45488800-45491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:45488800-45492600	Enhancers	Gastric	stomach
25	chr10:45488800-45492800	Enhancers	NHLF	lung
26	chr10:45488800-45493000	Enhancers	Esophagus	oesophagus
27	chr10:45488800-45495600	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:45489000-45491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:45489000-45492000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:45489000-45492800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:45489000-45493200	Enhancers	NHDF-Ad	bronchial
32	chr10:45489200-45491000	Weak transcription	Colonic Mucosa	Colon
33	chr10:45489200-45491200	Enhancers	Fetal Heart	heart
34	chr10:45489200-45491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr10:45489200-45492400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:45489200-45492600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:45489200-45493600	Enhancers	HUVEC	blood vessel
38	chr10:45489200-45494200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:45489200-45494200	Enhancers	Lung	lung
40	chr10:45489200-45495200	Enhancers	Dnd41	blood
41	chr10:45489200-45495600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:45489400-45491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr10:45489400-45492200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:45489400-45492200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:45489400-45495200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:45489400-45495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:45489600-45491600	Weak transcription	Fetal Intestine Large	intestine
48	chr10:45489600-45491600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr10:45489600-45491600	Enhancers	HepG2	liver
50	chr10:45489600-45491800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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