Variant report

Variant	rs72863250
Chromosome Location	chr4:78124939-78124940
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77997759..78000070-chr4:78123881..78125820,2	MCF-7	breast:
2	chr4:77973136..77974149-chr4:78124472..78125396,4	K562	blood:
3	chr4:77968037..77968611-chr4:78124042..78125032,2	MCF-7	breast:
4	chr4:78041474..78042648-chr4:78124907..78125575,3	MCF-7	breast:
5	chr4:78111226..78111821-chr4:78124414..78125004,2	MCF-7	breast:
6	chr4:77966536..77967346-chr4:78124518..78125381,3	MCF-7	breast:
7	chr4:77995909..77997574-chr4:78122547..78125037,2	MCF-7	breast:
8	chr4:77972517..77973832-chr4:78124536..78125312,3	MCF-7	breast:
9	chr4:77993291..77996240-chr4:78123279..78125310,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10006360	0.95[ASN][1000 genomes]
rs10014391	0.93[ASN][1000 genomes]
rs10017796	0.95[ASN][1000 genomes]
rs10017878	0.93[ASN][1000 genomes]
rs10022252	0.95[ASN][1000 genomes]
rs10027894	0.95[ASN][1000 genomes]
rs10028268	0.83[EUR][1000 genomes]
rs1006041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10518167	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11937096	0.83[EUR][1000 genomes]
rs11943130	1.00[ASN][1000 genomes]
rs17002416	0.95[ASN][1000 genomes]
rs17002418	0.95[ASN][1000 genomes]
rs28367533	0.95[ASN][1000 genomes]
rs28373623	0.95[ASN][1000 genomes]
rs28416544	0.95[ASN][1000 genomes]
rs28470363	0.95[ASN][1000 genomes]
rs28526402	0.95[ASN][1000 genomes]
rs28693444	0.95[ASN][1000 genomes]
rs28697073	0.95[ASN][1000 genomes]
rs28718050	0.95[ASN][1000 genomes]
rs4150060	0.81[ASN][1000 genomes]
rs4150092	0.85[ASN][1000 genomes]
rs4150099	0.85[ASN][1000 genomes]
rs4150103	0.85[ASN][1000 genomes]
rs58288213	0.95[ASN][1000 genomes]
rs58507229	0.86[ASN][1000 genomes]
rs59124751	1.00[ASN][1000 genomes]
rs59757896	0.93[ASN][1000 genomes]
rs6848898	0.95[ASN][1000 genomes]
rs6851055	0.95[ASN][1000 genomes]
rs6852578	0.95[ASN][1000 genomes]
rs72861687	0.95[ASN][1000 genomes]
rs72861692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863264	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72863265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72863270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9307246	0.95[ASN][1000 genomes]
rs9654188	0.95[ASN][1000 genomes]
rs9654189	0.95[ASN][1000 genomes]
rs9654190	0.95[ASN][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	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1011551	chr4:78120872-78204224	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012298	chr4:78120872-78255427	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78120600-78125200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78122400-78125000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:78122600-78125200	Enhancers	Stomach Mucosa	stomach
4	chr4:78122800-78125400	Enhancers	HSMM	muscle
5	chr4:78123600-78125200	Enhancers	HMEC	breast
6	chr4:78124000-78125200	Enhancers	NHEK	skin
7	chr4:78124200-78125200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:78124400-78125000	Enhancers	GM12878-XiMat	blood
9	chr4:78124400-78125200	Enhancers	Primary B cells from cord blood	blood
10	chr4:78124400-78125200	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:78124600-78125000	Enhancers	Primary T cells from cord blood	blood
12	chr4:78124600-78125000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:78124600-78125200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:78124600-78125200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:78124600-78125200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:78124600-78125200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:78124600-78125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:78124600-78125200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:78124600-78125200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:78124600-78125200	Enhancers	Fetal Thymus	thymus
21	chr4:78124600-78125200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:78124800-78125200	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links