Variant report

Variant	rs10212806
Chromosome Location	chr4:79741307-79741308
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	chr4:79740544-79741627	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79696613..79699103-chr4:79739804..79741544,2	K562	blood:

Variant related genes	Relation type
MIR5096	TF binding region
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10049916	1.00[AMR][1000 genomes]
rs17003471	1.00[AMR][1000 genomes]
rs17003474	1.00[AMR][1000 genomes]
rs17003475	0.91[AMR][1000 genomes]
rs1816184	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28501992	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28601752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28635617	0.92[AFR][1000 genomes]
rs28669324	1.00[AMR][1000 genomes]
rs28673838	1.00[AMR][1000 genomes]
rs7658187	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994118	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	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1011365	chr4:79714695-79779723	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007685	chr4:79732468-79788768	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79714400-79748400	Weak transcription	Aorta	Aorta
2	chr4:79720800-79747800	Weak transcription	Osteobl	bone
3	chr4:79721200-79741400	Weak transcription	Thymus	Thymus
4	chr4:79721600-79747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:79726600-79747800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:79727800-79748200	Weak transcription	NHEK	skin
7	chr4:79728400-79747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:79728600-79747200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:79729000-79747200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:79730400-79741400	Weak transcription	Primary T cells from cord blood	blood
11	chr4:79731400-79748600	Weak transcription	Pancreas	Pancrea
12	chr4:79731600-79747400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:79731600-79748000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:79731800-79747200	Weak transcription	Left Ventricle	heart
15	chr4:79731800-79747400	Weak transcription	Liver	Liver
16	chr4:79732200-79747000	Weak transcription	NHLF	lung
17	chr4:79732400-79747200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:79732400-79747800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:79732400-79759200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:79733000-79745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:79733400-79747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:79735400-79746800	Weak transcription	NHDF-Ad	bronchial
23	chr4:79735600-79741800	Weak transcription	Fetal Thymus	thymus
24	chr4:79735800-79746400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:79735800-79746600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:79735800-79747200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:79736400-79746800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:79736400-79746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:79736400-79748600	Weak transcription	HSMM	muscle
30	chr4:79736600-79748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:79737400-79747400	Weak transcription	Lung	lung
32	chr4:79738000-79746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:79738200-79748000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:79738400-79748200	Weak transcription	HepG2	liver
35	chr4:79738800-79747200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:79738800-79747200	Weak transcription	Fetal Intestine Large	intestine
37	chr4:79738800-79748000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:79738800-79748200	Weak transcription	Brain Angular Gyrus	brain
39	chr4:79738800-79793200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:79739000-79746400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:79739000-79746600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:79739000-79747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:79739000-79747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:79739000-79747600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:79739000-79748000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:79739000-79748400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:79739200-79748200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:79739200-79751200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr4:79739800-79747600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:79739800-79747800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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