Variant report

Variant	rs72839448
Chromosome Location	chr6:27258410-27258411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27258318..27260398-chr6:27469283..27471523,2	K562	blood:
2	chr6:27203282..27204812-chr6:27256715..27259261,2	K562	blood:
3	chr6:27258123..27260982-chr6:27774504..27777198,2	K562	blood:
4	chr6:27102356..27104874-chr6:27257312..27259023,2	K562	blood:
5	chr6:27257414..27260339-chr6:27439402..27443718,5	K562	blood:
6	chr6:27201566..27203350-chr6:27258009..27260418,2	K562	blood:

Variant related genes	Relation type
ENSG00000196747	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10456051	1.00[AFR][1000 genomes]
rs10456355	1.00[AFR][1000 genomes]
rs12191649	1.00[AFR][1000 genomes]
rs12192560	1.00[AFR][1000 genomes]
rs12193557	1.00[AFR][1000 genomes]
rs12194842	1.00[AFR][1000 genomes]
rs12194893	1.00[AMR][1000 genomes]
rs12195783	1.00[AFR][1000 genomes]
rs12196452	1.00[AFR][1000 genomes]
rs12196970	1.00[AFR][1000 genomes]
rs12199685	1.00[AFR][1000 genomes]
rs12199806	1.00[AFR][1000 genomes]
rs12202956	1.00[AFR][1000 genomes]
rs12204953	1.00[AFR][1000 genomes]
rs12209174	1.00[AFR][1000 genomes]
rs12209905	1.00[AFR][1000 genomes]
rs12211931	1.00[AFR][1000 genomes]
rs12212348	1.00[AFR][1000 genomes]
rs12212389	1.00[AFR][1000 genomes]
rs12213471	1.00[AFR][1000 genomes]
rs12213533	1.00[AFR][1000 genomes]
rs12215289	1.00[AFR][1000 genomes]
rs12215353	1.00[AFR][1000 genomes]
rs12215386	1.00[AFR][1000 genomes]
rs12215878	1.00[AFR][1000 genomes]
rs12374607	1.00[AFR][1000 genomes]
rs62617138	1.00[AFR][1000 genomes]
rs6902012	0.82[EUR][1000 genomes]
rs72839468	1.00[AFR][1000 genomes]
rs72839469	1.00[AFR][1000 genomes]
rs72839470	1.00[AFR][1000 genomes]
rs72839471	1.00[AFR][1000 genomes]
rs72839474	1.00[AFR][1000 genomes]
rs72839479	1.00[AFR][1000 genomes]
rs72843151	1.00[AFR][1000 genomes]
rs72843177	1.00[AFR][1000 genomes]
rs72843191	1.00[AFR][1000 genomes]
rs72845208	1.00[AFR][1000 genomes]
rs72845232	1.00[AFR][1000 genomes]
rs9348763	1.00[AFR][1000 genomes]
rs9368498	0.82[EUR][1000 genomes]
rs9368499	0.82[EUR][1000 genomes]
rs9368509	1.00[AFR][1000 genomes]
rs9379970	0.82[EUR][1000 genomes]
rs9393803	0.82[EUR][1000 genomes]
rs9393814	1.00[AFR][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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27256800-27258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27257800-27258800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:27257800-27259000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:27257800-27259000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:27257800-27259000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:27257800-27259200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:27257800-27259200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:27257800-27259200	Active TSS	NHEK	skin
9	chr6:27257800-27259400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:27257800-27259400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr6:27257800-27259400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:27257800-27259600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:27257800-27260000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:27258000-27258600	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr6:27258000-27258600	Active TSS	K562	blood
16	chr6:27258000-27259000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:27258000-27259000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:27258000-27259200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:27258000-27259600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr6:27258000-27260000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:27258000-27261800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr6:27258200-27258600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:27258200-27258600	Active TSS	A549	lung
24	chr6:27258200-27258600	Bivalent Enhancer	NH-A	brain
25	chr6:27258200-27259200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr6:27258200-27259200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:27258200-27259200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:27258200-27259200	Bivalent/Poised TSS	Osteobl	bone
29	chr6:27258400-27258600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:27258400-27258600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:27258400-27258600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:27258400-27258600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr6:27258400-27258600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:27258400-27258600	Bivalent Enhancer	HSMM	muscle
35	chr6:27258400-27259000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:27258400-27259000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:27258400-27259000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:27258400-27259000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:27258400-27261200	Weak transcription	HMEC	breast

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