Variant report

Variant	rs72862907
Chromosome Location	chr6:45339943-45339944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45339731..45341893-chr6:45343784..45347199,3	K562	blood:
2	chr6:45305783..45308112-chr6:45339812..45341818,2	K562	blood:
3	chr6:45339593..45342500-chr6:45348795..45350804,2	K562	blood:
4	chr6:45338555..45342703-chr6:45343513..45347387,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56030343	0.83[EUR][1000 genomes]
rs56092589	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56125317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72857099	0.84[EUR][1000 genomes]
rs72858557	0.83[EUR][1000 genomes]
rs72858585	0.83[EUR][1000 genomes]
rs72858592	0.83[EUR][1000 genomes]
rs72858601	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72860185	0.83[EUR][1000 genomes]
rs72862932	1.00[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:32 , 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	chr6:45310800-45344800	Weak transcription	Ovary	ovary
3	chr6:45316400-45344000	Weak transcription	Fetal Intestine Large	intestine
4	chr6:45319800-45343800	Weak transcription	Osteobl	bone
5	chr6:45320200-45343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:45320800-45344200	Weak transcription	NH-A	brain
7	chr6:45323400-45344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:45326600-45344000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:45327800-45343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:45328600-45343800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:45330200-45344200	Weak transcription	Brain Substantia Nigra	brain
12	chr6:45334000-45343800	Weak transcription	HSMM	muscle
13	chr6:45334000-45344200	Weak transcription	Fetal Thymus	thymus
14	chr6:45336000-45344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:45336200-45344000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:45336400-45344600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:45336400-45344600	Weak transcription	Psoas Muscle	Psoas
18	chr6:45337600-45340000	Enhancers	Fetal Lung	lung
19	chr6:45337800-45343200	Weak transcription	K562	blood
20	chr6:45338000-45344200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:45338800-45340000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:45338800-45340200	Enhancers	HepG2	liver
23	chr6:45339000-45342000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:45339200-45340000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:45339400-45340000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:45339400-45344000	Weak transcription	Fetal Kidney	kidney
27	chr6:45339600-45340000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:45339600-45340800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:45339800-45340200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:45339800-45344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:45339800-45344200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:45339800-45344200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links