Variant report

Variant	rs73735393
Chromosome Location	chr6:45335338-45335339
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	IRF1	chr6:45335274-45335462	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:45325121..45327435-chr6:45334510..45336608,2	K562	blood:
2	chr6:45332930..45339216-chr6:45342239..45349440,11	K562	blood:
3	chr6:45334941..45336604-chr6:45412002..45413719,2	K562	blood:

Variant related genes	Relation type
SUPT3H	TF binding region
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55775000	0.86[AFR][1000 genomes]
rs55944527	0.83[AFR][1000 genomes]
rs56007105	0.83[AFR][1000 genomes]
rs56166696	0.83[AFR][1000 genomes]
rs56246318	1.00[AFR][1000 genomes]
rs56389859	0.83[AFR][1000 genomes]
rs57751711	0.86[AFR][1000 genomes]
rs60637239	0.83[AFR][1000 genomes]
rs60756874	0.83[AFR][1000 genomes]
rs61218822	1.00[AFR][1000 genomes]
rs73735305	0.83[AFR][1000 genomes]
rs73735306	0.83[AFR][1000 genomes]
rs73735311	0.83[AFR][1000 genomes]
rs73735312	0.83[AFR][1000 genomes]
rs73735314	0.86[AFR][1000 genomes]
rs73735317	0.86[AFR][1000 genomes]
rs73735326	0.83[AFR][1000 genomes]
rs73735331	0.83[AFR][1000 genomes]
rs73735333	0.83[AFR][1000 genomes]
rs73735334	0.83[AFR][1000 genomes]
rs73735350	0.83[AFR][1000 genomes]
rs73735355	0.83[AFR][1000 genomes]
rs73735371	0.83[AFR][1000 genomes]
rs73735372	0.83[AFR][1000 genomes]
rs73735373	0.86[AFR][1000 genomes]
rs73735377	0.83[AFR][1000 genomes]
rs73735379	0.83[AFR][1000 genomes]
rs73735383	0.86[AFR][1000 genomes]
rs73735387	1.00[AFR][1000 genomes]
rs73735396	1.00[AFR][1000 genomes]
rs73735397	0.86[AFR][1000 genomes]
rs73737404	0.83[AFR][1000 genomes]
rs73737406	0.83[AFR][1000 genomes]
rs73738622	0.83[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45299400-45343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:45305400-45339800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:45310800-45344800	Weak transcription	Ovary	ovary
4	chr6:45313200-45339000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:45316400-45344000	Weak transcription	Fetal Intestine Large	intestine
6	chr6:45318200-45338800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:45319800-45343800	Weak transcription	Osteobl	bone
8	chr6:45320200-45343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:45320800-45338800	Weak transcription	HepG2	liver
10	chr6:45320800-45344200	Weak transcription	NH-A	brain
11	chr6:45321400-45337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:45323400-45344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:45324200-45335400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:45326600-45344000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:45327800-45343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:45328600-45338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:45328600-45343800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:45330200-45337200	Weak transcription	K562	blood
19	chr6:45330200-45344200	Weak transcription	Brain Substantia Nigra	brain
20	chr6:45332000-45336600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:45334000-45343800	Weak transcription	HSMM	muscle
22	chr6:45334000-45344200	Weak transcription	Fetal Thymus	thymus
23	chr6:45334800-45335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:45335000-45338200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:45335200-45335400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:45335200-45335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:45335200-45335600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:45335200-45336000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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