Variant report

Variant	rs7722483
Chromosome Location	chr5:7871188-7871189
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215217	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11738284	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11739527	1.00[AFR][1000 genomes]
rs11749024	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34172797	1.00[AFR][1000 genomes]
rs35890938	1.00[AFR][1000 genomes]
rs41283147	1.00[AFR][1000 genomes]
rs52827085	1.00[AFR][1000 genomes]
rs6859960	1.00[AFR][1000 genomes]
rs6864295	1.00[AFR][1000 genomes]
rs6868871	1.00[AFR][1000 genomes]
rs6874544	1.00[AFR][1000 genomes]
rs6875417	1.00[AFR][1000 genomes]
rs6875449	1.00[AFR][1000 genomes]
rs6876840	1.00[AFR][1000 genomes]
rs6879300	1.00[AFR][1000 genomes]
rs7725672	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727993	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9282788	1.00[AFR][1000 genomes]
rs9282790	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7869800-7871200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:7870000-7873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:7870000-7875400	Weak transcription	Spleen	Spleen
4	chr5:7870200-7871200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:7870200-7871200	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr5:7870200-7871400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:7870200-7871400	Weak transcription	Left Ventricle	heart
8	chr5:7870200-7871400	Flanking Active TSS	Hela-S3	cervix
9	chr5:7870200-7871600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:7870200-7871600	Weak transcription	Placenta	Placenta
11	chr5:7870200-7871600	Weak transcription	Lung	lung
12	chr5:7870200-7871800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:7870200-7872000	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:7870200-7872000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:7870200-7873400	Flanking Active TSS	GM12878-XiMat	blood
16	chr5:7870200-7875400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:7870200-7875600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:7870200-7875600	Weak transcription	HSMMtube	muscle
19	chr5:7870200-7875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:7870200-7875800	Weak transcription	Esophagus	oesophagus
21	chr5:7870200-7875800	Weak transcription	Gastric	stomach
22	chr5:7870200-7876000	Weak transcription	Fetal Brain Male	brain
23	chr5:7870200-7879800	Weak transcription	Pancreas	Pancrea
24	chr5:7870200-7882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:7870200-7903400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:7870400-7871200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:7870400-7871200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:7870400-7871200	Flanking Active TSS	A549	lung
29	chr5:7870400-7871400	Enhancers	Fetal Thymus	thymus
30	chr5:7870400-7871600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:7870400-7871600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:7870400-7872000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:7870400-7872200	Enhancers	Stomach Mucosa	stomach
34	chr5:7870400-7872600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:7870400-7873200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:7870400-7873600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr5:7870400-7874400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:7870400-7875400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:7870400-7875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:7870400-7875600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:7870600-7871200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:7870600-7871200	Enhancers	Primary B cells from cord blood	blood
43	chr5:7870600-7871200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:7870600-7871200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:7870600-7871200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:7870600-7871800	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:7870600-7872000	Enhancers	Liver	Liver
48	chr5:7870600-7872000	Enhancers	Brain Anterior Caudate	brain
49	chr5:7870600-7872000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr5:7870600-7873000	Genic enhancers	HSMM	muscle

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